Variant report

Variant	esv1835694
Chromosome Location	chr14:103987140-103990026
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr14:103988336-103988583	H1-hESC	embryonic stem cell:	n/a	chr14:103988542-103988553
2	ATF2	chr14:103988379-103988859	H1-hESC	embryonic stem cell:	n/a	chr14:103988542-103988553
3	ATF2	chr14:103986948-103987442	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr14:103987498-103987915	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr14:103987909-103988173	K562	blood:	n/a	chr14:103988031-103988040 chr14:103988063-103988083 chr14:103987981-103987990
6	ATF3	chr14:103987355-103987668	A549	lung:	n/a	n/a
7	BACH1	chr14:103989687-103989869	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr14:103987332-103987746	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCL3	chr14:103986975-103987854	A549	lung:	n/a	chr14:103987797-103987810 chr14:103987254-103987263
10	BCL3	chr14:103986942-103987242	A549	lung:	n/a	n/a
11	BCLAF1	chr14:103987345-103987665	GM12878	blood:	n/a	n/a
12	BHLHE40	chr14:103988110-103988137	GM12878	blood:	n/a	n/a
13	BHLHE40	chr14:103987177-103988209	K562	blood:	n/a	chr14:103988055-103988071 chr14:103987797-103987813
14	BHLHE40	chr14:103987405-103987775	GM12878	blood:	n/a	n/a
15	BRCA1	chr14:103987455-103987708	H1-hESC	embryonic stem cell:	n/a	n/a
16	BRCA1	chr14:103987042-103987697	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr14:103988499-103988707	Hela-S3	cervix:	n/a	n/a
18	CBX3	chr14:103987426-103987772	K562	blood:	n/a	n/a
19	CCNT2	chr14:103986744-103989391	K562	blood:	n/a	chr14:103988517-103988526 chr14:103987325-103987334 chr14:103987516-103987525 chr14:103988030-103988050
20	CEBPB	chr14:103987473-103987629	Hela-S3	cervix:	n/a	n/a
21	CEBPD	chr14:103988979-103989314	HepG2	liver:	n/a	n/a
22	CHD1	chr14:103988003-103988258	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD1	chr14:103988632-103989119	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD1	chr14:103988449-103988480	GM12878	blood:	n/a	n/a
25	CHD2	chr14:103987267-103987751	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr14:103987098-103987790	GM12878	blood:	n/a	n/a
27	CHD2	chr14:103989095-103989289	Hela-S3	cervix:	n/a	n/a
28	CHD2	chr14:103987196-103987772	K562	blood:	n/a	n/a
29	CHD2	chr14:103988408-103988749	K562	blood:	n/a	n/a
30	CHD2	chr14:103989185-103989202	HepG2	liver:	n/a	n/a
31	CHD2	chr14:103988400-103988739	Hela-S3	cervix:	n/a	n/a
32	CHD2	chr14:103986970-103988080	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr14:103989124-103989465	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr14:103989115-103989238	K562	blood:	n/a	n/a
35	CREB1	chr14:103987028-103988249	K562	blood:	n/a	n/a
36	CREB1	chr14:103988945-103989475	A549	lung:	n/a	n/a
37	CREB1	chr14:103986986-103988880	A549	lung:	n/a	chr14:103988541-103988554
38	CREB1	chr14:103987072-103988862	H1-hESC	embryonic stem cell:	n/a	chr14:103988541-103988554
39	CREB1	chr14:103988311-103989490	HepG2	liver:	n/a	chr14:103988541-103988554
40	CREB1	chr14:103987004-103988977	H1-hESC	embryonic stem cell:	n/a	chr14:103988541-103988554
41	CREB1	chr14:103988378-103988864	K562	blood:	n/a	chr14:103988541-103988554
42	CREB1	chr14:103987478-103988279	K562	blood:	n/a	n/a
43	CTCF	chr14:103987352-103987778	GM12878	blood:	n/a	chr14:103987432-103987445 chr14:103987570-103987586 chr14:103987572-103987585 chr14:103987569-103987587
44	CTCF	chr14:103987480-103987630	HBMEC	blood vessel:	n/a	chr14:103987570-103987586 chr14:103987572-103987585 chr14:103987569-103987587
45	CTCF	chr14:103987460-103987610	HMEC	breast:	n/a	chr14:103987570-103987586 chr14:103987572-103987585 chr14:103987569-103987587
46	CTCF	chr14:103987394-103987809	T-47D	breast:	n/a	chr14:103987432-103987445 chr14:103987570-103987586 chr14:103987572-103987585 chr14:103987569-103987587
47	CTCF	chr14:103987148-103987763	K562	blood:	n/a	chr14:103987432-103987445 chr14:103987570-103987586 chr14:103987572-103987585 chr14:103987569-103987587
48	CTCF	chr14:103987500-103987650	AG04450	lung:	n/a	chr14:103987570-103987586 chr14:103987572-103987585 chr14:103987569-103987587
49	CTCF	chr14:103987480-103987630	HFF	foreskin:	n/a	chr14:103987570-103987586 chr14:103987572-103987585 chr14:103987569-103987587
50	CTCF	chr14:103987460-103987692	A549	lung:	n/a	chr14:103987570-103987586 chr14:103987572-103987585 chr14:103987569-103987587

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:103987810-103987860	GM12892	blood:	n/a
2	chr14:103989629-103989679	K562	blood:	n/a
3	chr14:103987810-103987860	T-47D	breast:	n/a
4	chr14:103989349-103989399	GM19239	blood:	n/a
5	chr14:103987810-103987860	GM12892	blood:	n/a
6	chr14:103989629-103989679	K562	blood:	n/a
7	chr14:103987810-103987860	T-47D	breast:	n/a
8	chr14:103989349-103989399	GM19239	blood:	n/a
9	chr14:103987387-103987437	GM12892	blood:	n/a
10	chr14:103989789-103989839	HEEpiC	esophagus:	n/a
11	chr14:103987150-103987200	HCPEpiC	choroid plexus:	n/a
12	chr14:103989789-103989839	ProgFib	skin:	n/a
13	chr14:103987387-103987437	NHDF-neo	bronchial:	n/a
14	chr14:103989208-103989258	HEK293	kidney:	embryo
15	chr14:103987387-103987437	Hela-S3	cervix:	n/a
16	chr14:103989789-103989839	ECC-1	luminal epithelium:	n/a
17	chr14:103988776-103988826	SK-N-SH	brain:	n/a
18	chr14:103988476-103988526	HAEpiC	amniotic membrane:	n/a
19	chr14:103987150-103987200	SKMC	muscle:	n/a
20	chr14:103987728-103987778	SK-N-SH	brain:	n/a
21	chr14:103989478-103989528	HUVEC	blood vessel:	n/a
22	chr14:103987150-103987200	MCF-7	breast:	n/a
23	chr14:103989789-103989839	AoSMC	blood vessel:	n/a
24	chr14:103989711-103989761	HL-60	blood:	n/a
25	chr14:103989315-103989365	HMEC	breast:	n/a
26	chr14:103989349-103989399	HEEpiC	esophagus:	n/a
27	chr14:103989349-103989399	Hela-S3	cervix:	n/a
28	chr14:103989368-103989418	BE2_C	brain:	n/a
29	chr14:103989711-103989761	HNPCEpiC	eye:	n/a
30	chr14:103987150-103987200	NHDF-neo	bronchial:	n/a
31	chr14:103989368-103989418	K562	blood:	n/a
32	chr14:103989711-103989761	NT2-D1	testis:	n/a
33	chr14:103989349-103989399	HL-60	blood:	n/a
34	chr14:103989315-103989365	GM19239	blood:	n/a
35	chr14:103989711-103989761	HCF	heart:	n/a
36	chr14:103988776-103988826	CMK	blood:	n/a
37	chr14:103987810-103987860	HCPEpiC	choroid plexus:	n/a
38	chr14:103989315-103989365	MCF-7	breast:	n/a
39	chr14:103987150-103987200	NB4	blood:	n/a
40	chr14:103989368-103989418	NHBE	bronchial:	n/a
41	chr14:103988428-103988478	ProgFib	skin:	n/a
42	chr14:103989315-103989365	SKMC	muscle:	n/a
43	chr14:103988476-103988526	SKMC	muscle:	n/a
44	chr14:103988428-103988478	GM12878	blood:	n/a
45	chr14:103987387-103987437	HRPEpiC	eye:	n/a
46	chr14:103989629-103989679	Jurkat	blood:	n/a
47	chr14:103989368-103989418	IMR90	lung:	fetal
48	chr14:103988476-103988526	GM19239	blood:	n/a
49	chr14:103988428-103988478	AoSMC	blood vessel:	n/a
50	chr14:103989336-103989386	NHBE	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:103988878..103989543-chr7:39662895..39663568,2	Hela-S3	cervix:
2	chr14:103987454..103990068-chr14:104178702..104181671,2	K562	blood:
3	chr1:25256344..25257214-chr14:103988746..103989611,2	HCT-116	colon:
4	chr14:103989806..103992763-chr14:104031843..104033929,2	K562	blood:
5	chr14:103587793..103589963-chr14:103986359..103988722,2	K562	blood:
6	chr14:103988618..103989155-chr2:27632066..27633031,2	Hela-S3	cervix:
7	chr14:103893677..103895539-chr14:103987804..103990047,2	K562	blood:
8	chr14:103989795..103991937-chr14:104151715..104153875,2	K562	blood:
9	chr10:102820580..102821244-chr14:103988608..103989371,2	Hela-S3	cervix:
10	chr14:103983696..103988397-chr14:104026059..104029809,6	K562	blood:
11	chr14:103986881..103989564-chr14:104195653..104197565,2	K562	blood:
12	chr14:103522157..103524674-chr14:103987667..103989193,2	K562	blood:
13	chr14:103988769..103989622-chr3:43327887..43328473,2	HCT-116	colon:
14	chr14:103963760..103966397-chr14:103985638..103989760,5	K562	blood:
15	chr14:103986778..103989691-chr14:104095238..104098302,4	K562	blood:
16	chr14:103799200..103803060-chr14:103987408..103990865,9	K562	blood:
17	chr14:103988216..103989188-chr3:156543435..156544222,2	HCT-116	colon:
18	chr14:103989521..103992471-chr14:104020578..104022117,2	K562	blood:
19	chr14:103985364..103989946-chr14:104026445..104030227,8	MCF-7	breast:
20	chr14:103988720..103989231-chr16:18812317..18812925,2	Hela-S3	cervix:
21	chr1:151512166..151513141-chr14:103987052..103987573,2	Hela-S3	cervix:
22	chr14:54907336..54908126-chr14:103988325..103989307,2	Hela-S3	cervix:
23	chr14:103798500..103802639-chr14:103987592..103992121,9	K562	blood:
24	chr14:103988730..103989594-chr5:40834707..40835350,2	Hela-S3	cervix:

Variant related genes	Relation type
CKB	TF binding region
CKB	CpG island
ENSG00000075413	chromatin interactions
ENSG00000020633	chromatin interactions
ENSG00000170540	chromatin interactions
ENSG00000201184	chromatin interactions
ENSG00000163788	chromatin interactions
ENSG00000232536	chromatin interactions
ENSG00000166170	chromatin interactions
ENSG00000259775	chromatin interactions
ENSG00000259717	chromatin interactions
ENSG00000197980	chromatin interactions
ENSG00000145592	chromatin interactions
ENSG00000260342	chromatin interactions
ENSG00000126215	chromatin interactions
ENSG00000115241	chromatin interactions
ENSG00000273162	chromatin interactions
ENSG00000256053	chromatin interactions
ENSG00000185215	chromatin interactions
ENSG00000100664	chromatin interactions
ENSG00000143367	chromatin interactions
ENSG00000006451	chromatin interactions
ENSG00000100528	chromatin interactions
ENSG00000100711	chromatin interactions
ENSG00000269963	chromatin interactions
ENSG00000198752	chromatin interactions
ENSG00000126214	chromatin interactions

Extended variants
information (count: 125 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2071407	chr14:103987140-103987141	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs557625598	chr14:103987141-103987142	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs574200017	chr14:103987149-103987150	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs559713677	chr14:103987151-103987152	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs543184846	chr14:103987157-103987158	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs373145236	chr14:103987167-103987168	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs572947724	chr14:103987195-103987196	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs545024357	chr14:103987202-103987203	Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs564827226	chr14:103987222-103987223	Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs530516883	chr14:103987238-103987239	Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs544225595	chr14:103987283-103987284	Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs143830590	chr14:103987286-103987287	Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs8017780	chr14:103987305-103987306	Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs546351693	chr14:103987387-103987388	Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs565861001	chr14:103987415-103987416	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs528522014	chr14:103987475-103987476	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs137901801	chr14:103987482-103987483	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs370427943	chr14:103987552-103987553	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
19	rs199890528	chr14:103987554-103987555	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
20	rs368610740	chr14:103987576-103987577	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs537451279	chr14:103987582-103987583	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs370276279	chr14:103987586-103987587	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs373730099	chr14:103987617-103987618	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs368048391	chr14:103987649-103987650	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs36002620	chr14:103987723-103987724	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs200890896	chr14:103987728-103987729	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs200266751	chr14:103987754-103987755	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs202115891	chr14:103987797-103987798	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs374321801	chr14:103987813-103987814	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs369278146	chr14:103987822-103987823	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs558681211	chr14:103987835-103987836	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
32	rs575158421	chr14:103987842-103987843	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
33	rs544177157	chr14:103987844-103987845	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
34	rs34995931	chr14:103987881-103987882	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
35	rs529976279	chr14:103987898-103987899	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs540043397	chr14:103987927-103987928	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs559876230	chr14:103987934-103987935	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs532168573	chr14:103988039-103988040	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs551508322	chr14:103988056-103988057	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
40	rs375645493	chr14:103988065-103988066	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs530844247	chr14:103988071-103988072	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs550919532	chr14:103988073-103988074	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs567866697	chr14:103988094-103988095	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs538583363	chr14:103988121-103988122	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs536906018	chr14:103988151-103988152	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
46	rs1136165	chr14:103988180-103988181	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs11545349	chr14:103988223-103988224	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
48	rs567115562	chr14:103988255-103988256	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
49	rs539211313	chr14:103988283-103988284	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
50	rs10129401	chr14:103988291-103988292	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Cancer	17160897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:573 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103980000-103987200	Weak transcription	Aorta	Aorta
2	chr14:103980000-103988400	Weak transcription	Fetal Kidney	kidney
3	chr14:103980400-103987200	Weak transcription	HSMMtube	muscle
4	chr14:103982600-103987400	Enhancers	Fetal Heart	heart
5	chr14:103982800-103987600	Enhancers	Fetal Brain Male	brain
6	chr14:103983000-103987600	Enhancers	Fetal Lung	lung
7	chr14:103983400-103987400	Enhancers	Spleen	Spleen
8	chr14:103984000-103987200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr14:103984200-103987200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:103984200-103987200	Enhancers	Stomach Mucosa	stomach
11	chr14:103984200-103987200	Enhancers	NH-A	brain
12	chr14:103984400-103987200	Enhancers	Liver	Liver
13	chr14:103984400-103987200	Genic enhancers	NHLF	lung
14	chr14:103984600-103987200	Enhancers	Lung	lung
15	chr14:103985000-103987200	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
16	chr14:103985200-103987200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr14:103985200-103987600	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
18	chr14:103985200-103988000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:103985400-103987600	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
20	chr14:103985400-103987800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
21	chr14:103985600-103987400	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
22	chr14:103985800-103987200	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
23	chr14:103985800-103987400	Transcr. at gene 5' and 3'	Colonic Mucosa	Colon
24	chr14:103986000-103987200	Enhancers	NHDF-Ad	bronchial
25	chr14:103986200-103988600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:103986200-103988800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:103986400-103987200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr14:103986400-103987400	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
29	chr14:103986400-103988400	Active TSS	Primary T cells from cord blood	blood
30	chr14:103986600-103987200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr14:103986600-103987200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
32	chr14:103986600-103987200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
33	chr14:103986600-103988400	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
34	chr14:103986800-103987200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr14:103986800-103987200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
36	chr14:103986800-103987200	Enhancers	Primary B cells from cord blood	blood
37	chr14:103986800-103987200	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr14:103986800-103987200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
39	chr14:103986800-103987200	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr14:103986800-103987400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:103986800-103987400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
42	chr14:103986800-103987400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:103986800-103987400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:103986800-103987400	Flanking Active TSS	Brain Substantia Nigra	brain
45	chr14:103986800-103987600	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr14:103986800-103987800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
47	chr14:103986800-103987800	Flanking Active TSS	GM12878-XiMat	blood
48	chr14:103986800-103988200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr14:103986800-103988400	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr14:103986800-103989000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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