Variant report

Variant	esv3361541
Chromosome Location	chr14:35342726-35345574
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1084)
CpG islands
(count:367)
Chromatin interactive
region (count:49)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1084 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:35342412-35343492	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:35344539-35344927	K562	blood:	n/a	chr14:35344687-35344703
3	ARID3A	chr14:35344288-35344863	HepG2	liver:	n/a	chr14:35344687-35344703
4	ARID3A	chr14:35342525-35342900	K562	blood:	n/a	n/a
5	ATF2	chr14:35344238-35344838	GM12878	blood:	n/a	n/a
6	ATF2	chr14:35342054-35343587	GM12878	blood:	n/a	n/a
7	ATF2	chr14:35342557-35343411	GM12878	blood:	n/a	n/a
8	BACH1	chr14:35342581-35344615	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCL11A	chr14:35343059-35343419	GM12878	blood:	n/a	chr14:35343360-35343369 chr14:35343392-35343401
10	BCL11A	chr14:35342796-35343005	GM12878	blood:	n/a	chr14:35342864-35342873
11	BCL3	chr14:35342763-35343566	GM12878	blood:	n/a	chr14:35342864-35342873 chr14:35343360-35343369 chr14:35343392-35343401 chr14:35343505-35343514 chr14:35343041-35343054
12	BCLAF1	chr14:35342631-35344886	GM12878	blood:	n/a	chr14:35342864-35342873 chr14:35344313-35344326 chr14:35343666-35343679 chr14:35344044-35344053 chr14:35344438-35344447 chr14:35343360-35343369 chr14:35343642-35343655 chr14:35344041-35344050 chr14:35343392-35343401 chr14:35344044-35344057 chr14:35344436-35344449 chr14:35342694-35342702 chr14:35343505-35343514 chr14:35343041-35343054
13	BCLAF1	chr14:35342086-35343650	GM12878	blood:	n/a	chr14:35342864-35342873 chr14:35343360-35343369 chr14:35343392-35343401 chr14:35342694-35342702 chr14:35343505-35343514 chr14:35343041-35343054
14	BHLHE40	chr14:35342311-35343939	GM12878	blood:	n/a	n/a
15	BHLHE40	chr14:35344184-35344846	GM12878	blood:	n/a	chr14:35344309-35344325 chr14:35344211-35344227 chr14:35344260-35344276 chr14:35344308-35344324
16	BHLHE40	chr14:35342245-35343450	K562	blood:	n/a	n/a
17	BHLHE40	chr14:35342530-35343827	HepG2	liver:	n/a	n/a
18	BHLHE40	chr14:35344291-35344809	K562	blood:	n/a	chr14:35344309-35344325 chr14:35344308-35344324
19	BRCA1	chr14:35343652-35343662	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr14:35342514-35343028	H1-hESC	embryonic stem cell:	n/a	n/a
21	BRCA1	chr14:35342930-35343371	HepG2	liver:	n/a	n/a
22	BRCA1	chr14:35342686-35343193	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr14:35344489-35345053	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr14:35344277-35344604	HepG2	liver:	n/a	n/a
25	BRCA1	chr14:35343027-35343387	GM12878	blood:	n/a	n/a
26	BRCA1	chr14:35343597-35343614	GM12878	blood:	n/a	n/a
27	CBX3	chr14:35342449-35343148	K562	blood:	n/a	n/a
28	CCNT2	chr14:35342621-35344765	K562	blood:	n/a	chr14:35343163-35343172 chr14:35342824-35342833
29	CEBPB	chr14:35344412-35344847	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr14:35343074-35343690	HepG2	liver:	n/a	n/a
31	CEBPB	chr14:35342678-35343041	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr14:35342495-35342934	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr14:35344560-35344818	K562	blood:	n/a	n/a
34	CEBPD	chr14:35343131-35343795	HepG2	liver:	n/a	n/a
35	CEBPD	chr14:35342471-35343026	K562	blood:	n/a	n/a
36	CEBPD	chr14:35342461-35343042	K562	blood:	n/a	n/a
37	CEBPD	chr14:35342661-35344717	HepG2	liver:	n/a	n/a
38	CHD1	chr14:35342086-35343264	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD1	chr14:35342617-35345077	GM12878	blood:	n/a	chr14:35343373-35343383
40	CHD1	chr14:35341788-35345348	IMR90	lung:	n/a	chr14:35343373-35343383
41	CHD1	chr14:35343808-35343873	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr14:35342621-35344590	HepG2	liver:	n/a	chr14:35343373-35343383
43	CHD2	chr14:35342632-35343706	Hela-S3	cervix:	n/a	chr14:35343373-35343383
44	CHD2	chr14:35343836-35344570	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr14:35344150-35344921	K562	blood:	n/a	n/a
46	CHD2	chr14:35343968-35344788	Hela-S3	cervix:	n/a	n/a
47	CHD2	chr14:35342632-35343347	K562	blood:	n/a	n/a
48	CHD2	chr14:35342536-35343269	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD2	chr14:35344073-35344757	GM12878	blood:	n/a	n/a
50	CHD2	chr14:35342445-35343843	GM12878	blood:	n/a	chr14:35343373-35343383

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:35343581-35343631	SK-N-SH_RA	brain:	n/a
2	chr14:35343581-35343631	SK-N-SH_RA	brain:	n/a
3	chr14:35343581-35343631	Hepatocyte	liver:	n/a
4	chr14:35343213-35343263	AoSMC	blood vessel:	n/a
5	chr14:35343862-35343912	RPTEC	kidney:	n/a
6	chr14:35343581-35343631	HUVEC	blood vessel:	n/a
7	chr14:35343862-35343912	A549	lung:	n/a
8	chr14:35344667-35344717	HNPCEpiC	eye:	n/a
9	chr14:35343581-35343631	HepG2	liver:	n/a
10	chr14:35344258-35344308	GM12891	blood:	n/a
11	chr14:35343862-35343912	GM12891	blood:	n/a
12	chr14:35343862-35343912	HCM	heart:	n/a
13	chr14:35344258-35344308	IMR90	lung:	fetal
14	chr14:35343213-35343263	BE2_C	brain:	n/a
15	chr14:35343862-35343912	HAEpiC	amniotic membrane:	n/a
16	chr14:35343862-35343912	LNCaP	prostate:	n/a
17	chr14:35343581-35343631	HPAEpiC	pulmonary alveolar:	n/a
18	chr14:35344258-35344308	AG09309	skin:	n/a
19	chr14:35344258-35344308	SK-N-SH	brain:	n/a
20	chr14:35343581-35343631	GM06990	blood:	n/a
21	chr14:35344667-35344717	Jurkat	blood:	n/a
22	chr14:35344667-35344717	HIPEpiC	eye:	n/a
23	chr14:35344258-35344308	ovcar-3	ovarian:	n/a
24	chr14:35344667-35344717	IMR90	lung:	fetal
25	chr14:35343213-35343263	HepG2	liver:	n/a
26	chr14:35344258-35344308	HepG2	liver:	n/a
27	chr14:35343581-35343631	HIPEpiC	eye:	n/a
28	chr14:35343862-35343912	NB4	blood:	n/a
29	chr14:35344667-35344717	HRE	kidney:	n/a
30	chr14:35343213-35343263	ProgFib	skin:	n/a
31	chr14:35343581-35343631	BJ	skin:	n/a
32	chr14:35344667-35344717	MCF-7	breast:	n/a
33	chr14:35344518-35344568	LNCaP	prostate:	n/a
34	chr14:35344258-35344308	HNPCEpiC	eye:	n/a
35	chr14:35343581-35343631	GM19239	blood:	n/a
36	chr14:35343581-35343631	NHDF-neo	bronchial:	n/a
37	chr14:35344518-35344568	SK-N-SH	brain:	n/a
38	chr14:35344518-35344568	AG09319	gingival:	n/a
39	chr14:35343862-35343912	PANC-1	pancreas:	n/a
40	chr14:35344258-35344308	HCM	heart:	n/a
41	chr14:35343581-35343631	SKMC	muscle:	n/a
42	chr14:35343581-35343631	K562	blood:	n/a
43	chr14:35344258-35344308	HL-60	blood:	n/a
44	chr14:35344667-35344717	AG09319	gingival:	n/a
45	chr14:35343213-35343263	HAEpiC	amniotic membrane:	n/a
46	chr14:35344667-35344717	BJ	skin:	n/a
47	chr14:35344667-35344717	HCT-116	colon:	n/a
48	chr14:35344667-35344717	PFSK-1	brain:	n/a
49	chr14:35344518-35344568	GM12892	blood:	n/a
50	chr14:35344258-35344308	Jurkat	blood:	n/a

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35342567..35345567-chr14:35590904..35592504,3	MCF-7	breast:
2	chr14:35342553..35343377-chr3:71912429..71913454,3	Hela-S3	cervix:
3	chr14:35096806..35099646-chr14:35341739..35344917,3	MCF-7	breast:
4	chr14:35343366..35345021-chr14:35390010..35392504,2	MCF-7	breast:
5	chr1:8938432..8939214-chr14:35343874..35344602,2	Hela-S3	cervix:
6	chr14:35343897..35345985-chr7:127725161..127726681,2	MCF-7	breast:
7	chr14:35239285..35241333-chr14:35342948..35344948,2	MCF-7	breast:
8	chr1:109967870..109970435-chr14:35342880..35344902,2	MCF-7	breast:
9	chr1:14951812..14952812-chr14:35342553..35343377,2	Hela-S3	cervix:
10	chr14:35341498..35344850-chr14:35591184..35593267,3	K562	blood:
11	chr14:35341948..35345853-chr14:35449382..35453241,7	K562	blood:
12	chr14:35097894..35099748-chr14:35341381..35343942,2	K562	blood:
13	chr14:35341168..35344675-chr14:35590606..35593872,6	MCF-7	breast:
14	chr14:35342673..35343627-chr17:47785563..47786234,2	NB4	blood:
15	chr14:35344163..35344999-chr2:58273588..58274207,2	Hela-S3	cervix:
16	chr14:35341867..35346512-chr14:35447191..35456965,26	MCF-7	breast:
17	chr14:35342519..35343120-chr5:41870411..41870996,2	HCT-116	colon:
18	chr14:35343659..35344577-chr19:46009426..46009956,2	Hela-S3	cervix:
19	chr14:35341203..35346354-chr14:35872500..35877183,6	MCF-7	breast:
20	chr14:35341122..35342965-chr14:35463628..35465327,2	K562	blood:
21	chr14:35343222..35344773-chr14:35872622..35874877,2	MCF-7	breast:
22	chr14:35343382..35345457-chr14:35494554..35496991,2	MCF-7	breast:
23	chr14:35310484..35315541-chr14:35341782..35344711,6	MCF-7	breast:
24	chr14:35342797..35343384-chr19:54704188..54705034,2	Hela-S3	cervix:
25	chr14:35331154..35334713-chr14:35340036..35344743,5	K562	blood:
26	chr14:35341804..35343375-chr3:87276256..87277854,2	MCF-7	breast:
27	chr14:35339817..35342831-chr15:91306196..91309195,3	MCF-7	breast:
28	chr1:43814220..43815115-chr14:35342547..35343160,2	Hela-S3	cervix:
29	chr14:35007550..35010317-chr14:35342022..35344512,2	K562	blood:
30	chr14:35342738..35344659-chr14:35589687..35591484,2	K562	blood:
31	chr14:35342527..35343475-chr7:135636413..135636913,2	NB4	blood:
32	chr14:35341954..35346847-chr14:35449484..35456301,15	MCF-7	breast:
33	chr14:35326748..35329780-chr14:35341273..35343392,3	K562	blood:
34	chr14:35342985..35344751-chr15:34393746..34395266,2	MCF-7	breast:
35	chr14:35342615..35344582-chr17:57913472..57916215,2	MCF-7	breast:
36	chr11:3038063..3038681-chr14:35342889..35343402,2	MCF-7	breast:
37	chr14:35342553..35343377-chrX:9259402..9260402,2	Hela-S3	cervix:
38	chr14:35288901..35291358-chr14:35341201..35343506,2	MCF-7	breast:
39	chr14:35227474..35229033-chr14:35341739..35343496,2	MCF-7	breast:
40	chr14:35341151..35344721-chr14:35870913..35875092,3	K562	blood:
41	chr14:35007550..35010391-chr14:35343012..35345148,2	K562	blood:
42	chr14:35341141..35345954-chr14:35450498..35453739,11	K562	blood:
43	chr14:35345148..35348932-chr14:35351443..35354941,5	K562	blood:
44	chr14:35332142..35334655-chr14:35339932..35342885,2	MCF-7	breast:
45	chr14:35327682..35333013-chr14:35342164..35345913,7	MCF-7	breast:
46	chr14:35341830..35343386-chr14:35514397..35517047,2	K562	blood:
47	chr14:35342831..35343425-chr5:72794141..72794641,2	NB4	blood:
48	chr14:35342451..35343400-chr17:40729277..40729849,2	Hela-S3	cervix:
49	chr14:35342612..35346213-chr14:35514260..35516898,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRP54-1	chr14:35343549-35345665	ENSG00000258738.1

No data

Variant related genes	Relation type
ENSG00000258738	TF binding region
BAZ1A	TF binding region
ENSG00000258738	CpG island
BAZ1A	CpG island
ENSG00000100890	chromatin interactions
ENSG00000145741	chromatin interactions
ENSG00000151327	chromatin interactions
ENSG00000198604	chromatin interactions
ENSG00000251726	chromatin interactions
ENSG00000230679	chromatin interactions
ENSG00000028116	chromatin interactions
ENSG00000131470	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000258704	chromatin interactions
ENSG00000170889	chromatin interactions
ENSG00000197157	chromatin interactions
ENSG00000258790	chromatin interactions
ENSG00000258493	chromatin interactions
ENSG00000100906	chromatin interactions
ENSG00000100883	chromatin interactions
ENSG00000134153	chromatin interactions
ENSG00000129515	chromatin interactions
ENSG00000143106	chromatin interactions
ENSG00000083720	chromatin interactions
ENSG00000083937	chromatin interactions
ENSG00000129518	chromatin interactions
ENSG00000092020	chromatin interactions
ENSG00000182405	chromatin interactions
ENSG00000250751	chromatin interactions
ENSG00000074800	chromatin interactions
ENSG00000125753	chromatin interactions

Extended variants
information (count: 90 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80306194	chr14:35342739-35342740	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
2	rs542602221	chr14:35342753-35342754	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
3	rs375419272	chr14:35342795-35342796	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
4	rs3783313	chr14:35342838-35342839	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs576373412	chr14:35342855-35342856	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
6	rs545298525	chr14:35342902-35342903	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
7	rs565218481	chr14:35342907-35342908	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
8	rs200410284	chr14:35342983-35342984	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
9	rs34406326	chr14:35342984-35342985	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
10	rs377097969	chr14:35342985-35342986	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
11	rs527485678	chr14:35343015-35343016	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
12	rs547615646	chr14:35343025-35343026	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
13	rs112369835	chr14:35343061-35343062	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
14	rs10147966	chr14:35343101-35343102	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	22 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs530228566	chr14:35343127-35343128	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
16	rs7153744	chr14:35343148-35343149	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	21 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs569693515	chr14:35343268-35343269	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
18	rs538684292	chr14:35343279-35343280	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
19	rs552445926	chr14:35343318-35343319	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
20	rs566412204	chr14:35343352-35343353	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
21	rs375604372	chr14:35343394-35343395	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
22	rs4313721	chr14:35343409-35343410	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs567213626	chr14:35343416-35343417	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
24	rs5807801	chr14:35343464-35343465	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
25	rs397970372	chr14:35343467-35343468	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
26	rs536372456	chr14:35343510-35343511	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
27	rs556318737	chr14:35343554-35343555	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
28	rs372292647	chr14:35343566-35343567	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
29	rs188024554	chr14:35343590-35343591	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
30	rs149876559	chr14:35343608-35343609	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
31	rs558569087	chr14:35343615-35343616	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
32	rs572307966	chr14:35343617-35343618	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
33	rs2145031	chr14:35343629-35343630	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs368773164	chr14:35343653-35343654	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
35	rs199753877	chr14:35343664-35343665	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
36	rs375532792	chr14:35343678-35343679	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
37	rs376186216	chr14:35343688-35343689	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
38	rs540683750	chr14:35343699-35343700	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
39	rs529867209	chr14:35343702-35343703	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
40	rs139940202	chr14:35343705-35343706	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
41	rs143651951	chr14:35343718-35343719	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
42	rs146823409	chr14:35343730-35343731	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
43	rs139478810	chr14:35343748-35343749	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
44	rs149979682	chr14:35343751-35343752	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
45	rs201149793	chr14:35343771-35343772	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
46	rs201008475	chr14:35343787-35343788	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
47	rs145210630	chr14:35343797-35343798	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
48	rs369729317	chr14:35343813-35343814	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
49	rs373190794	chr14:35343840-35343841	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
50	rs369932207	chr14:35343900-35343901	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Acute lymphoblastic leukemia	20067559	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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Glioma	24330732	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35341400-35342800	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr14:35341400-35345400	Active TSS	GM12878-XiMat	blood
3	chr14:35341600-35342800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr14:35341600-35343400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr14:35341600-35343400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr14:35341600-35345200	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr14:35341600-35345400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:35341800-35343600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:35341800-35345000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr14:35341800-35345000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:35341800-35345000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:35341800-35345000	Active TSS	Fetal Kidney	kidney
13	chr14:35341800-35345000	Active TSS	Psoas Muscle	Psoas
14	chr14:35341800-35345000	Active TSS	NH-A	brain
15	chr14:35341800-35345000	Active TSS	NHLF	lung
16	chr14:35341800-35345200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:35341800-35345200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:35341800-35345200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:35341800-35345200	Active TSS	Stomach Smooth Muscle	stomach
20	chr14:35341800-35345200	Active TSS	Thymus	Thymus
21	chr14:35341800-35345200	Active TSS	HSMMtube	muscle
22	chr14:35341800-35345200	Active TSS	NHDF-Ad	bronchial
23	chr14:35342000-35343000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr14:35342000-35343000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:35342000-35343400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:35342000-35344600	Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr14:35342000-35344800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:35342000-35344800	Active TSS	Adipose Nuclei	Adipose
29	chr14:35342000-35344800	Active TSS	Monocytes-CD14+_RO01746	blood
30	chr14:35342000-35345000	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr14:35342000-35345000	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr14:35342000-35345000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:35342000-35345000	Active TSS	Primary T cells fromperipheralblood	blood
34	chr14:35342000-35345000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:35342000-35345000	Active TSS	Fetal Intestine Large	intestine
36	chr14:35342000-35345000	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr14:35342000-35345000	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr14:35342000-35345000	Active TSS	HSMM	muscle
39	chr14:35342000-35345200	Active TSS	Colon Smooth Muscle	Colon
40	chr14:35342000-35345200	Active TSS	Fetal Thymus	thymus
41	chr14:35342200-35342800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr14:35342200-35342800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr14:35342200-35343000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr14:35342200-35343200	Active TSS	Fetal Heart	heart
45	chr14:35342200-35344600	Active TSS	Brain Hippocampus Middle	brain
46	chr14:35342200-35344800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr14:35342200-35344800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr14:35342200-35344800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr14:35342200-35344800	Active TSS	Fetal Brain Female	brain
50	chr14:35342200-35344800	Active TSS	Small Intestine	intestine

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