Variant report

Variant	esv3425903
Chromosome Location	chr14:70232649-70235147
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:660)
CpG islands
(count:916)
Chromatin interactive
region (count:57)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:660 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:70233756-70234689	HepG2	liver:	n/a	n/a
2	ATF1	chr14:70233545-70234006	K562	blood:	n/a	n/a
3	ATF2	chr14:70233425-70234939	GM12878	blood:	n/a	n/a
4	ATF2	chr14:70233558-70234125	GM12878	blood:	n/a	n/a
5	ATF2	chr14:70233345-70234789	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr14:70234142-70234804	GM12878	blood:	n/a	n/a
7	ATF2	chr14:70233497-70234794	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr14:70234396-70234740	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr14:70233506-70233915	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr14:70233517-70233992	GM12878	blood:	n/a	n/a
11	BCL11A	chr14:70233578-70234020	GM12878	blood:	n/a	chr14:70233801-70233810
12	BCL3	chr14:70233508-70234704	A549	lung:	n/a	chr14:70233801-70233810
13	BCL3	chr14:70234222-70234790	GM12878	blood:	n/a	n/a
14	BCL3	chr14:70233471-70234697	A549	lung:	n/a	chr14:70233801-70233810
15	BCLAF1	chr14:70233556-70235023	GM12878	blood:	n/a	chr14:70233801-70233810
16	BCLAF1	chr14:70233580-70234964	GM12878	blood:	n/a	chr14:70233801-70233810
17	BHLHE40	chr14:70233335-70234957	GM12878	blood:	n/a	chr14:70234412-70234428 chr14:70233630-70233646
18	BHLHE40	chr14:70233408-70234884	K562	blood:	n/a	chr14:70234412-70234428 chr14:70233630-70233646
19	BRCA1	chr14:70233479-70234866	H1-hESC	embryonic stem cell:	n/a	n/a
20	BRCA1	chr14:70233486-70235018	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr14:70233565-70234665	GM12878	blood:	n/a	n/a
22	BRCA1	chr14:70233472-70234646	HepG2	liver:	n/a	n/a
23	CBX3	chr14:70233446-70234045	K562	blood:	n/a	n/a
24	CCNT2	chr14:70233520-70234741	K562	blood:	n/a	chr14:70233662-70233671
25	CEBPB	chr14:70234346-70234724	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr14:70234261-70234690	K562	blood:	n/a	n/a
27	CEBPB	chr14:70234417-70234660	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPD	chr14:70233589-70234166	K562	blood:	n/a	n/a
29	CEBPD	chr14:70233711-70234017	HepG2	liver:	n/a	n/a
30	CEBPD	chr14:70233516-70234150	HepG2	liver:	n/a	n/a
31	CEBPD	chr14:70234208-70234459	HepG2	liver:	n/a	n/a
32	CEBPD	chr14:70233613-70234389	K562	blood:	n/a	n/a
33	CHD1	chr14:70233324-70235034	GM12878	blood:	n/a	chr14:70234450-70234459
34	CHD1	chr14:70233644-70235062	H1-hESC	embryonic stem cell:	n/a	chr14:70234450-70234459
35	CHD1	chr14:70233097-70242136	IMR90	lung:	n/a	chr14:70234450-70234459
36	CHD2	chr14:70233478-70234790	HepG2	liver:	n/a	chr14:70234450-70234459
37	CHD2	chr14:70233273-70234758	Hela-S3	cervix:	n/a	chr14:70234450-70234459
38	CHD2	chr14:70233403-70234902	K562	blood:	n/a	chr14:70234450-70234459
39	CHD2	chr14:70233323-70234896	H1-hESC	embryonic stem cell:	n/a	chr14:70234450-70234459
40	CHD2	chr14:70233198-70234847	GM12878	blood:	n/a	chr14:70234450-70234459
41	CREB1	chr14:70233382-70234883	HepG2	liver:	n/a	n/a
42	CREB1	chr14:70233413-70234152	K562	blood:	n/a	n/a
43	CREB1	chr14:70233588-70234189	ECC-1	luminal epithelium:	n/a	n/a
44	CREB1	chr14:70233528-70234065	A549	lung:	n/a	n/a
45	CREB1	chr14:70233499-70234744	A549	lung:	n/a	n/a
46	CREB1	chr14:70233512-70234159	H1-hESC	embryonic stem cell:	n/a	n/a
47	CREB1	chr14:70233402-70234781	H1-hESC	embryonic stem cell:	n/a	n/a
48	CREB1	chr14:70233384-70234837	GM12878	blood:	n/a	n/a
49	CREB1	chr14:70233445-70234777	HepG2	liver:	n/a	n/a
50	CREB1	chr14:70233471-70234122	ECC-1	luminal epithelium:	n/a	n/a

(count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:70233602-70233652	HCPEpiC	choroid plexus:	n/a
2	chr14:70233602-70233652	HCPEpiC	choroid plexus:	n/a
3	chr14:70233797-70233847	K562	blood:	n/a
4	chr14:70233602-70233652	MCF-7	breast:	n/a
5	chr14:70232673-70232723	CMK	blood:	n/a
6	chr14:70233651-70233701	AG10803	skin:	n/a
7	chr14:70233693-70233743	IMR90	lung:	fetal
8	chr14:70233599-70233649	NH-A	brain:	n/a
9	chr14:70234741-70234791	SK-N-MC	brain:	n/a
10	chr14:70233637-70233687	NT2-D1	testis:	n/a
11	chr14:70233819-70233869	HPAEpiC	pulmonary alveolar:	n/a
12	chr14:70233737-70233787	H1-hESC	embryonic stem cell:	embryo
13	chr14:70232673-70232723	GM12892	blood:	n/a
14	chr14:70233693-70233743	Hela-S3	cervix:	n/a
15	chr14:70233840-70233890	GM06990	blood:	n/a
16	chr14:70233693-70233743	Jurkat	blood:	n/a
17	chr14:70233602-70233652	AG09319	gingival:	n/a
18	chr14:70233797-70233847	AG09309	skin:	n/a
19	chr14:70233651-70233701	H1-hESC	embryonic stem cell:	embryo
20	chr14:70234662-70234712	HIPEpiC	eye:	n/a
21	chr14:70233637-70233687	HepG2	liver:	n/a
22	chr14:70234662-70234712	NHDF-neo	bronchial:	n/a
23	chr14:70233651-70233701	SKMC	muscle:	n/a
24	chr14:70233737-70233787	AG04449	skin:	fetal
25	chr14:70233737-70233787	MCF-7	breast:	n/a
26	chr14:70233797-70233847	HL-60	blood:	n/a
27	chr14:70233819-70233869	GM12892	blood:	n/a
28	chr14:70233918-70233968	HMEC	breast:	n/a
29	chr14:70234528-70234578	PrEC	prostate:	n/a
30	chr14:70233599-70233649	MCF10A-Er-Src	breast:	n/a
31	chr14:70233737-70233787	HCPEpiC	choroid plexus:	n/a
32	chr14:70233918-70233968	AG10803	skin:	n/a
33	chr14:70233637-70233687	HRCEpiC	kidney:	n/a
34	chr14:70233737-70233787	SK-N-MC	brain:	n/a
35	chr14:70234741-70234791	CMK	blood:	n/a
36	chr14:70234252-70234302	NB4	blood:	n/a
37	chr14:70233602-70233652	AG04450	lung:	fetal
38	chr14:70233651-70233701	GM12891	blood:	n/a
39	chr14:70233599-70233649	Caco-2	colon:	n/a
40	chr14:70232673-70232723	Hepatocyte	liver:	n/a
41	chr14:70233693-70233743	U87	brain:	n/a
42	chr14:70233918-70233968	HCM	heart:	n/a
43	chr14:70233797-70233847	HPAEpiC	pulmonary alveolar:	n/a
44	chr14:70234741-70234791	T-47D	breast:	n/a
45	chr14:70233840-70233890	GM12878	blood:	n/a
46	chr14:70233637-70233687	GM12878	blood:	n/a
47	chr14:70234662-70234712	SK-N-MC	brain:	n/a
48	chr14:70233819-70233869	HCM	heart:	n/a
49	chr14:70233693-70233743	GM12878	blood:	n/a
50	chr14:70233918-70233968	NB4	blood:	n/a

(count:57 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:69949476..69951469-chr14:70232962..70234565,2	MCF-7	breast:
2	chr11:93474275..93475209-chr14:70233722..70234456,2	Hela-S3	cervix:
3	chr14:69864846..69866528-chr14:70232343..70235201,2	K562	blood:
4	chr14:70234049..70234581-chr17:46688359..46689314,2	Hela-S3	cervix:
5	chr14:70233225..70234196-chr7:91569475..91570354,2	NB4	blood:
6	chr14:70078185..70080215-chr14:70232416..70234645,2	K562	blood:
7	chr14:70233601..70234234-chr18:157797..158549,2	Hela-S3	cervix:
8	chr10:95241567..95242547-chr14:70233878..70234588,2	Hela-S3	cervix:
9	chr14:70232529..70235203-chr3:112855285..112858190,2	MCF-7	breast:
10	chr14:70233425..70234321-chr16:4474694..4475687,2	Hela-S3	cervix:
11	chr14:70233812..70234811-chr6:30584689..30585592,2	Hela-S3	cervix:
12	chr1:27319886..27320740-chr14:70233328..70234203,2	HCT-116	colon:
13	chr14:70233883..70234516-chr14:75745155..75745696,2	Hela-S3	cervix:
14	chr14:70077771..70080127-chr14:70232780..70235719,3	MCF-7	breast:
15	chr14:68140783..68142478-chr14:70233794..70235436,2	MCF-7	breast:
16	chr14:70234259..70234848-chr16:66967859..66968665,2	Hela-S3	cervix:
17	chr14:70233506..70234030-chr7:16685746..16686707,2	Hela-S3	cervix:
18	chr14:70232711..70233593-chr17:8058943..8059803,2	Hela-S3	cervix:
19	chr14:70233572..70234808-chr19:51306783..51308006,3	Hela-S3	cervix:
20	chr14:70233880..70234560-chr2:109149866..109150829,2	Hela-S3	cervix:
21	chr10:75012057..75013090-chr14:70233796..70234856,3	Hela-S3	cervix:
22	chr14:70233607..70234603-chr20:62496350..62497153,2	Hela-S3	cervix:
23	chr14:70233478..70234112-chr21:46237606..46238371,2	Hela-S3	cervix:
24	chr14:70233166..70234462-chr9:140134817..140136094,3	Hela-S3	cervix:
25	chr14:70233270..70234247-chr5:140044089..140044815,2	NB4	blood:
26	chr14:69950456..69952040-chr14:70233397..70235258,2	MCF-7	breast:
27	chr1:27022189..27022928-chr14:70233571..70234313,2	HCT-116	colon:
28	chr14:70233460..70234283-chr8:101322288..101322904,2	Hela-S3	cervix:
29	chr14:70232739..70236319-chr14:70264002..70267714,4	MCF-7	breast:
30	chr14:70233609..70234255-chrX:53448743..53449304,2	Hela-S3	cervix:
31	chr14:70193435..70195061-chr14:70232589..70234499,2	K562	blood:
32	chr11:10830166..10830873-chr14:70233647..70234607,2	Hela-S3	cervix:
33	chr14:70233111..70234704-chr14:71276587..71278198,2	MCF-7	breast:
34	chr1:149859447..149860157-chr14:70233392..70234268,2	Hela-S3	cervix:
35	chr14:70232881..70235770-chr14:70270700..70273092,2	MCF-7	breast:
36	chr14:70233607..70234383-chr2:64880490..64881331,2	Hela-S3	cervix:
37	chr1:207494727..207495520-chr14:70232723..70233666,2	Hela-S3	cervix:
38	chr14:70233418..70234082-chr7:117823597..117824354,2	Hela-S3	cervix:
39	chr10:103454537..103455188-chr14:70234056..70234968,2	HCT-116	colon:
40	chr14:70233420..70235715-chr14:70270936..70274519,3	MCF-7	breast:
41	chr14:70232370..70233879-chr8:96280749..96282540,2	MCF-7	breast:
42	chr1:110880575..110881337-chr14:70233712..70234375,2	Hela-S3	cervix:
43	chr14:70234045..70234856-chr19:3572340..3573053,2	Hela-S3	cervix:
44	chr14:70233401..70234259-chr9:19380030..19380759,2	NB4	blood:
45	chr12:124457291..124457854-chr14:70233492..70234347,2	Hela-S3	cervix:
46	chr14:70233834..70234634-chr7:5595667..5596496,2	NB4	blood:
47	chr14:70077094..70079754-chr14:70233044..70235632,2	K562	blood:
48	chr14:70232810..70235786-chr14:71065753..71068797,4	MCF-7	breast:
49	chr14:70233095..70235215-chr14:71274129..71276265,2	MCF-7	breast:
50	chr14:70037278..70041103-chr14:70232570..70234461,4	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC10A1-1	chr14:70233000-70234430	NONHSAT037537

No data

(count:1 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	SFRS5	hsa-miR-124-3p	chr14:70233304-70233324

Variant related genes	Relation type
SRSF5	TF binding region
SRSF5	CpG island
ENSG00000175985	chromatin interactions
ENSG00000182919	chromatin interactions
ENSG00000100568	chromatin interactions
ENSG00000167747	chromatin interactions
ENSG00000179195	chromatin interactions
ENSG00000248724	chromatin interactions
ENSG00000178882	chromatin interactions
ENSG00000259153	chromatin interactions
ENSG00000117713	chromatin interactions
ENSG00000253368	chromatin interactions
ENSG00000262246	chromatin interactions
ENSG00000253773	chromatin interactions
ENSG00000156172	chromatin interactions
ENSG00000100650	chromatin interactions
ENSG00000188229	chromatin interactions
ENSG00000100647	chromatin interactions
ENSG00000196352	chromatin interactions
ENSG00000214184	chromatin interactions
ENSG00000006432	chromatin interactions
ENSG00000101557	chromatin interactions
ENSG00000064961	chromatin interactions
ENSG00000127914	chromatin interactions
ENSG00000227540	chromatin interactions
ENSG00000179833	chromatin interactions
ENSG00000166595	chromatin interactions
ENSG00000206652	chromatin interactions
ENSG00000128534	chromatin interactions
ENSG00000072501	chromatin interactions
ENSG00000034677	chromatin interactions
ENSG00000137154	chromatin interactions
ENSG00000143669	chromatin interactions
ENSG00000136261	chromatin interactions
ENSG00000100652	chromatin interactions
ENSG00000133997	chromatin interactions
ENSG00000182180	chromatin interactions
ENSG00000029364	chromatin interactions
ENSG00000204568	chromatin interactions
ENSG00000221060	chromatin interactions
ENSG00000149657	chromatin interactions
ENSG00000107338	chromatin interactions
ENSG00000120314	chromatin interactions
ENSG00000110321	chromatin interactions
ENSG00000166012	chromatin interactions
ENSG00000179094	chromatin interactions
ENSG00000184900	chromatin interactions
ENSG00000101150	chromatin interactions
ENSG00000255994	chromatin interactions
ENSG00000204569	chromatin interactions
ENSG00000119242	chromatin interactions
ENSG00000107829	chromatin interactions
ENSG00000267909	chromatin interactions
ENSG00000138119	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000246308	chromatin interactions
ENSG00000172831	chromatin interactions
ENSG00000260027	chromatin interactions
ENSG00000162775	chromatin interactions
ENSG00000100632	chromatin interactions
ENSG00000253076	chromatin interactions
ENSG00000170345	chromatin interactions
ENSG00000272719	chromatin interactions
ENSG00000113971	chromatin interactions

Extended variants
information (count: 129 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559561400	chr14:70232712-70232713	Enhancers Active TSS Weak transcription Flanking Active TSS	CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs75639086	chr14:70232763-70232764	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs77683062	chr14:70232767-70232768	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
4	rs74061419	chr14:70232832-70232833	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs578147754	chr14:70232841-70232842	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
6	rs544779019	chr14:70232873-70232874	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
7	rs193169438	chr14:70232892-70232893	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
8	rs576389431	chr14:70232937-70232938	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
9	rs112303074	chr14:70232938-70232939	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
10	rs61982101	chr14:70232945-70232946	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs138510243	chr14:70232959-70232960	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
12	rs541228648	chr14:70232973-70232974	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
13	rs559135721	chr14:70232982-70232983	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
14	rs532883393	chr14:70233019-70233020	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
15	rs113359376	chr14:70233022-70233023	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
16	rs569343198	chr14:70233035-70233036	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
17	rs549455018	chr14:70233043-70233044	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
18	rs567960449	chr14:70233046-70233047	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
19	rs112721271	chr14:70233058-70233059	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
20	rs534859305	chr14:70233091-70233092	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
21	rs185442177	chr14:70233126-70233127	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
22	rs571735080	chr14:70233127-70233128	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
23	rs138453813	chr14:70233152-70233153	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
24	rs373562933	chr14:70233160-70233161	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
25	rs144409861	chr14:70233240-70233241	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
26	rs112671867	chr14:70233259-70233260	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
27	rs73283382	chr14:70233335-70233336	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	24 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs575754359	chr14:70233382-70233383	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
29	rs7141677	chr14:70233431-70233432	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	29 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs72725730	chr14:70233433-70233434	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	29 gene(s)	Overlapped CNVs	n/a
31	rs552244062	chr14:70233464-70233465	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	30 gene(s)	Overlapped CNVs	n/a
32	rs565667194	chr14:70233524-70233525	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	35 gene(s)	Overlapped CNVs	n/a
33	rs367855161	chr14:70233525-70233526	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	35 gene(s)	Overlapped CNVs	n/a
34	rs573880878	chr14:70233540-70233541	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	35 gene(s)	Overlapped CNVs	n/a
35	rs540837778	chr14:70233547-70233548	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	35 gene(s)	Overlapped CNVs	n/a
36	rs141603328	chr14:70233551-70233552	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	35 gene(s)	Overlapped CNVs	n/a
37	rs534450726	chr14:70233585-70233586	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	37 gene(s)	Overlapped CNVs	n/a
38	rs577299653	chr14:70233599-70233600	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	Overlapped CNVs	n/a
39	rs544753973	chr14:70233615-70233616	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	Overlapped CNVs	n/a
40	rs3809399	chr14:70233632-70233633	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs376302000	chr14:70233633-70233634	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	Overlapped CNVs	n/a
42	rs73283383	chr14:70233644-70233645	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs56154784	chr14:70233665-70233666	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs528797739	chr14:70233712-70233713	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	Overlapped CNVs	n/a
45	rs190649195	chr14:70233719-70233720	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	Overlapped CNVs	n/a
46	rs145941515	chr14:70233737-70233738	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	Overlapped CNVs	n/a
47	rs369890095	chr14:70233751-70233752	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	Overlapped CNVs	n/a
48	rs539131534	chr14:70233783-70233784	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	Overlapped CNVs	n/a
49	rs140416963	chr14:70233816-70233817	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	Overlapped CNVs	n/a
50	rs551134151	chr14:70233823-70233824	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Autism	22495311	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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:386 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70222400-70233000	Weak transcription	Primary B cells from peripheral blood	blood
2	chr14:70228000-70233000	Weak transcription	NH-A	brain
3	chr14:70228600-70233000	Weak transcription	NHEK	skin
4	chr14:70230200-70233000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr14:70230400-70233200	Weak transcription	Stomach Mucosa	stomach
6	chr14:70231200-70233000	Weak transcription	HUVEC	blood vessel
7	chr14:70232200-70233200	Enhancers	Primary T cells from cord blood	blood
8	chr14:70232200-70233200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr14:70232400-70232800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr14:70232400-70233000	Enhancers	Primary T cells fromperipheralblood	blood
11	chr14:70232400-70233000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:70232400-70233000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:70232400-70233000	Enhancers	HepG2	liver
14	chr14:70232400-70233200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr14:70232400-70233200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr14:70232400-70233200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr14:70232400-70233200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr14:70232400-70233200	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr14:70232400-70233200	Enhancers	Brain Substantia Nigra	brain
20	chr14:70232400-70233200	Enhancers	Fetal Thymus	thymus
21	chr14:70232600-70232800	Enhancers	Spleen	Spleen
22	chr14:70232600-70232800	Enhancers	Dnd41	blood
23	chr14:70232600-70232800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr14:70232600-70233000	Enhancers	H9 Cell Line	embryonic stem cell
25	chr14:70232600-70233000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr14:70232600-70233000	Enhancers	Primary hematopoietic stem cells	blood
27	chr14:70232600-70233000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:70232600-70233000	Enhancers	Liver	Liver
29	chr14:70232600-70233000	Enhancers	Hela-S3	cervix
30	chr14:70232600-70233200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr14:70232600-70233200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr14:70232600-70233200	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr14:70232600-70233200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr14:70232600-70233200	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr14:70232600-70233200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr14:70232600-70233200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr14:70232600-70233200	Active TSS	Fetal Heart	heart
38	chr14:70232600-70233200	Enhancers	Fetal Lung	lung
39	chr14:70232600-70233200	Enhancers	Thymus	Thymus
40	chr14:70232600-70233800	Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr14:70232600-70234600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr14:70232600-70234800	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr14:70232800-70233000	Enhancers	Primary B cells from cord blood	blood
44	chr14:70232800-70233000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:70232800-70233000	Enhancers	Brain Angular Gyrus	brain
46	chr14:70232800-70233200	Enhancers	Fetal Muscle Trunk	muscle
47	chr14:70232800-70233200	Enhancers	Placenta	Placenta
48	chr14:70232800-70233200	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr14:70232800-70233600	Flanking Active TSS	Dnd41	blood
50	chr14:70232800-70233800	Weak transcription	Spleen	Spleen

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