Variant report

Variant	nsv9288
Chromosome Location	chr15:83479484-83496828
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:262)
CpG islands
(count:122)
Chromatin interactive
region (count:42)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:83479918-83480157	K562	blood:	n/a	n/a
2	ATF2	chr15:83479355-83480327	GM12878	blood:	n/a	n/a
3	ATF2	chr15:83479287-83480364	GM12878	blood:	n/a	n/a
4	BATF	chr15:83479342-83480289	GM12878	blood:	n/a	n/a
5	BATF	chr15:83496809-83497044	GM12878	blood:	n/a	n/a
6	BATF	chr15:83479819-83480227	GM12878	blood:	n/a	n/a
7	BCL11A	chr15:83479278-83480283	GM12878	blood:	n/a	n/a
8	BCL11A	chr15:83479559-83480160	GM12878	blood:	n/a	n/a
9	BCL3	chr15:83479847-83480193	GM12878	blood:	n/a	n/a
10	BCLAF1	chr15:83479577-83480105	GM12878	blood:	n/a	n/a
11	BCLAF1	chr15:83479251-83480322	GM12878	blood:	n/a	n/a
12	BHLHE40	chr15:83479558-83480312	GM12878	blood:	n/a	n/a
13	BHLHE40	chr15:83478064-83479667	K562	blood:	n/a	chr15:83479238-83479254
14	CEBPB	chr15:83478923-83479525	HepG2	liver:	n/a	n/a
15	CEBPB	chr15:83479364-83480383	GM12878	blood:	n/a	n/a
16	CEBPB	chr15:83479212-83479564	IMR90	lung:	n/a	n/a
17	CEBPB	chr15:83479279-83479515	K562	blood:	n/a	n/a
18	CEBPB	chr15:83479061-83479583	A549	lung:	n/a	n/a
19	CEBPB	chr15:83496822-83497194	HepG2	liver:	n/a	n/a
20	CEBPB	chr15:83496787-83497182	HepG2	liver:	n/a	n/a
21	CEBPB	chr15:83479983-83480095	K562	blood:	n/a	n/a
22	CEBPB	chr15:83479189-83480121	Hela-S3	cervix:	n/a	n/a
23	CHD1	chr15:83479525-83479564	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD1	chr15:83478017-83480145	GM12878	blood:	n/a	n/a
25	CHD2	chr15:83477952-83479564	Hela-S3	cervix:	n/a	n/a
26	CHD2	chr15:83478006-83480145	GM12878	blood:	n/a	n/a
27	CTCF	chr15:83481004-83481085	MCF-7	breast:	n/a	n/a
28	CTCF	chr15:83480998-83481101	MCF-7	breast:	n/a	n/a
29	CTCF	chr15:83480920-83481070	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr15:83480760-83480910	RPTEC	kidney:	n/a	n/a
31	CUX1	chr15:83479479-83480335	GM12878	blood:	n/a	n/a
32	EBF1	chr15:83479877-83480260	GM12878	blood:	n/a	n/a
33	EBF1	chr15:83479541-83480170	GM12878	blood:	n/a	n/a
34	EBF1	chr15:83479472-83480314	GM12878	blood:	n/a	n/a
35	EBF1	chr15:83479178-83479518	GM12878	blood:	n/a	n/a
36	EGR1	chr15:83492534-83492662	K562	blood:	n/a	n/a
37	ELF1	chr15:83479227-83479488	HepG2	liver:	n/a	chr15:83479383-83479394
38	EP300	chr15:83479269-83479690	Hela-S3	cervix:	n/a	chr15:83479385-83479394
39	EP300	chr15:83496800-83497151	HepG2	liver:	n/a	n/a
40	EP300	chr15:83479550-83480255	GM12878	blood:	n/a	chr15:83479850-83479864
41	EP300	chr15:83479490-83480268	GM12878	blood:	n/a	chr15:83479850-83479864
42	EP300	chr15:83479778-83480381	GM12878	blood:	n/a	chr15:83479850-83479864
43	FOS	chr15:83479868-83480136	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr15:83490690-83490935	HUVEC	blood vessel:	n/a	chr15:83490818-83490829 chr15:83490820-83490828 chr15:83490820-83490828 chr15:83490820-83490827 chr15:83490819-83490829 chr15:83490818-83490830 chr15:83490819-83490829
45	FOS	chr15:83479496-83479635	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr15:83479399-83479625	MCF10A-Er-Src	breast:	n/a	n/a
47	FOXA1	chr15:83496734-83497117	HepG2	liver:	n/a	n/a
48	FOXA1	chr15:83496826-83497096	HepG2	liver:	n/a	n/a
49	FOXA1	chr15:83496715-83497048	HepG2	liver:	n/a	n/a
50	FOXA2	chr15:83479559-83479818	HepG2	liver:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:83480317-83480367	AG09319	gingival:	n/a
2	chr15:83480317-83480367	SK-N-MC	brain:	n/a
3	chr15:83481869-83481919	CMK	blood:	n/a
4	chr15:83481869-83481919	HL-60	blood:	n/a
5	chr15:83480317-83480367	NT2-D1	testis:	n/a
6	chr15:83480317-83480367	HCT-116	colon:	n/a
7	chr15:83481869-83481919	HIPEpiC	eye:	n/a
8	chr15:83481869-83481919	PANC-1	pancreas:	n/a
9	chr15:83481869-83481919	A549	lung:	n/a
10	chr15:83480317-83480367	MCF10A-Er-Src	breast:	n/a
11	chr15:83480317-83480367	SK-N-SH	brain:	n/a
12	chr15:83480317-83480367	AG04449	skin:	fetal
13	chr15:83480317-83480367	AG09309	skin:	n/a
14	chr15:83480317-83480367	HUVEC	blood vessel:	n/a
15	chr15:83481869-83481919	HNPCEpiC	eye:	n/a
16	chr15:83481869-83481919	LNCaP	prostate:	n/a
17	chr15:83480317-83480367	BJ	skin:	n/a
18	chr15:83480317-83480367	HL-60	blood:	n/a
19	chr15:83480317-83480367	AG04450	lung:	fetal
20	chr15:83480317-83480367	GM12891	blood:	n/a
21	chr15:83481869-83481919	GM06990	blood:	n/a
22	chr15:83481869-83481919	RPTEC	kidney:	n/a
23	chr15:83481869-83481919	GM19239	blood:	n/a
24	chr15:83481869-83481919	SAEC	small airway:	n/a
25	chr15:83481869-83481919	AG04449	skin:	fetal
26	chr15:83481869-83481919	IMR90	lung:	fetal
27	chr15:83480317-83480367	HRCEpiC	kidney:	n/a
28	chr15:83480317-83480367	H1-hESC	embryonic stem cell:	embryo
29	chr15:83481869-83481919	HAEpiC	amniotic membrane:	n/a
30	chr15:83480317-83480367	T-47D	breast:	n/a
31	chr15:83481869-83481919	Jurkat	blood:	n/a
32	chr15:83480317-83480367	SAEC	small airway:	n/a
33	chr15:83481869-83481919	HCF	heart:	n/a
34	chr15:83481869-83481919	GM12892	blood:	n/a
35	chr15:83481869-83481919	MCF10A-Er-Src	breast:	n/a
36	chr15:83481869-83481919	U87	brain:	n/a
37	chr15:83480317-83480367	NH-A	brain:	n/a
38	chr15:83481869-83481919	AG04450	lung:	fetal
39	chr15:83481869-83481919	NT2-D1	testis:	n/a
40	chr15:83481869-83481919	NB4	blood:	n/a
41	chr15:83480317-83480367	HepG2	liver:	n/a
42	chr15:83481869-83481919	HepG2	liver:	n/a
43	chr15:83480317-83480367	Jurkat	blood:	n/a
44	chr15:83481869-83481919	PFSK-1	brain:	n/a
45	chr15:83481869-83481919	HEK293	kidney:	embryo
46	chr15:83480317-83480367	NHDF-neo	bronchial:	n/a
47	chr15:83481869-83481919	SK-N-MC	brain:	n/a
48	chr15:83481869-83481919	HCT-116	colon:	n/a
49	chr15:83481869-83481919	BJ	skin:	n/a
50	chr15:83481869-83481919	ovcar-3	ovarian:	n/a

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:83478234..83479933-chr15:83485060..83487669,2	K562	blood:
2	chr15:83482141..83484668-chr15:83493605..83496419,2	MCF-7	breast:
3	chr15:83477828..83481866-chr15:83483118..83489176,7	K562	blood:
4	chr15:83417500..83421911-chr15:83474614..83480217,8	MCF-7	breast:
5	chr15:83480184..83483063-chr15:83673551..83675141,2	K562	blood:
6	chr15:83495199..83497362-chr15:83499457..83501013,2	K562	blood:
7	chr15:83313427..83317808-chr15:83477553..83483000,6	K562	blood:
8	chr15:83423255..83426158-chr15:83477607..83479598,3	MCF-7	breast:
9	chr15:83481406..83484295-chr15:83488515..83491028,2	MCF-7	breast:
10	chr15:83455431..83457955-chr15:83489452..83491913,2	MCF-7	breast:
11	chr15:83477828..83481866-chr15:83483118..83489176,7	K562	blood:
12	chr15:83482141..83484668-chr15:83493605..83496419,2	MCF-7	breast:
13	chr15:83487140..83490123-chr15:83495534..83497188,2	K562	blood:
14	chr15:83417832..83422548-chr15:83476028..83480956,9	K562	blood:
15	chr15:83476157..83479071-chr15:83480775..83482878,2	K562	blood:
16	chr15:83346623..83348757-chr15:83479507..83481301,2	K562	blood:
17	chr15:83478559..83480416-chr15:83489248..83490840,2	MCF-7	breast:
18	chr15:83477460..83480587-chr15:83496112..83502372,6	K562	blood:
19	chr15:83478452..83480034-chr15:83499455..83501748,2	MCF-7	breast:
20	chr15:83478234..83479933-chr15:83485060..83487669,2	K562	blood:
21	chr15:83418952..83421075-chr15:83493113..83495192,2	K562	blood:
22	chr15:83477632..83480172-chr15:83484528..83487051,2	MCF-7	breast:
23	chr15:83347885..83349520-chr15:83478710..83480628,2	MCF-7	breast:
24	chr15:83481406..83484295-chr15:83488515..83491028,2	MCF-7	breast:
25	chr15:83476923..83480237-chr15:83875108..83878990,4	MCF-7	breast:
26	chr15:83479049..83481749-chr15:83503841..83505564,2	K562	blood:
27	chr15:83478211..83480402-chr15:83735487..83737469,2	MCF-7	breast:
28	chr15:83484279..83486201-chr15:83497779..83499925,2	K562	blood:
29	chr15:83477554..83479674-chr15:83486165..83489315,3	MCF-7	breast:
30	chr15:83495845..83498669-chr15:83504409..83507025,2	K562	blood:
31	chr15:83417749..83420684-chr15:83476028..83479878,6	K562	blood:
32	chr15:83348193..83350766-chr15:83477443..83480779,4	MCF-7	breast:
33	chr15:83475882..83480852-chr15:83678880..83683242,6	MCF-7	breast:
34	chr15:83477554..83479674-chr15:83486165..83489315,3	MCF-7	breast:
35	chr15:83478559..83480416-chr15:83489248..83490840,2	MCF-7	breast:
36	chr15:83333197..83334998-chr15:83479229..83480988,2	MCF-7	breast:
37	chr15:83417361..83424147-chr15:83476165..83481050,26	MCF-7	breast:
38	chr15:83487140..83490123-chr15:83495534..83497188,2	K562	blood:
39	chr15:83477632..83480172-chr15:83484528..83487051,2	MCF-7	breast:
40	chr15:83376836..83378789-chr15:83478421..83480593,2	MCF-7	breast:
41	chr15:83478686..83480372-chr15:83679248..83681221,2	MCF-7	breast:
42	chr15:83495862..83497428-chr15:83499513..83501800,2	K562	blood:

No data

Variant related genes	Relation type
WHAMM	TF binding region
FSD2	TF binding region
WHAMM	CpG island
FSD2	CpG island
ENSG00000260608	chromatin interactions
ENSG00000103723	chromatin interactions
ENSG00000252690	chromatin interactions
ENSG00000169609	chromatin interactions
ENSG00000259462	chromatin interactions
ENSG00000250988	chromatin interactions
ENSG00000214575	chromatin interactions
ENSG00000064726	chromatin interactions
ENSG00000263643	chromatin interactions
ENSG00000156232	chromatin interactions
ENSG00000166503	chromatin interactions

Extended variants
information (count: 613 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:613 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541264571	chr15:83479569-83479570	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
2	rs528437870	chr15:83479612-83479613	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs201322325	chr15:83479635-83479636	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
4	rs142052279	chr15:83479730-83479731	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
5	rs374844077	chr15:83479746-83479747	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs530314778	chr15:83479764-83479765	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs571428839	chr15:83479826-83479827	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs543034226	chr15:83479915-83479916	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs184003937	chr15:83479961-83479962	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs532084809	chr15:83480016-83480017	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs377602346	chr15:83480020-83480021	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs538912381	chr15:83480028-83480029	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs551890373	chr15:83480050-83480051	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs565635452	chr15:83480057-83480058	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs145800406	chr15:83480062-83480063	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs138634615	chr15:83480113-83480114	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs35590674	chr15:83480154-83480155	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs188733220	chr15:83480155-83480156	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs142681702	chr15:83480173-83480174	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs114098598	chr15:83480232-83480233	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs35376288	chr15:83480233-83480234	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs150380205	chr15:83480241-83480242	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs181507768	chr15:83480242-83480243	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs185271587	chr15:83480256-83480257	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs190563255	chr15:83480267-83480268	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs554834986	chr15:83480317-83480318	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs567286322	chr15:83480341-83480342	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs534559209	chr15:83480433-83480434	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs575078347	chr15:83480458-83480459	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs543664779	chr15:83480469-83480470	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs138065008	chr15:83480514-83480515	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs532026855	chr15:83480595-83480596	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs372320089	chr15:83480613-83480614	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs182287742	chr15:83480632-83480633	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs528139348	chr15:83480674-83480675	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs552794656	chr15:83480723-83480724	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs548387797	chr15:83480726-83480727	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs568116167	chr15:83480748-83480749	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs530835976	chr15:83480848-83480849	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs550935431	chr15:83480867-83480868	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs577663785	chr15:83480915-83480916	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs570759361	chr15:83480936-83480937	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs9635453	chr15:83480984-83480985	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs559660362	chr15:83480988-83480989	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs558666589	chr15:83481020-83481021	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs368751325	chr15:83481033-83481034	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs186082644	chr15:83481065-83481066	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs534760340	chr15:83481066-83481067	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs371463314	chr15:83481073-83481074	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs377304026	chr15:83481126-83481127	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
abnormal development	18461090	CNVD
Intellectual disability	22102821	CNVD
renal disease	17924346	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:888 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83477400-83480400	Active TSS	Colonic Mucosa	Colon
2	chr15:83477400-83480400	Active TSS	Stomach Mucosa	stomach
3	chr15:83477400-83481000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr15:83477600-83479600	Active TSS	Brain Anterior Caudate	brain
5	chr15:83477600-83480200	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr15:83477600-83480400	Active TSS	Psoas Muscle	Psoas
7	chr15:83477600-83480800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:83477800-83479600	Active TSS	H1 Cell Line	embryonic stem cell
9	chr15:83477800-83479600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr15:83477800-83479600	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr15:83477800-83479800	Active TSS	Fetal Brain Male	brain
12	chr15:83477800-83480000	Active TSS	H9 Cell Line	embryonic stem cell
13	chr15:83477800-83480000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr15:83477800-83480200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr15:83477800-83480400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr15:83477800-83480400	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr15:83477800-83481000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr15:83478000-83479600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr15:83478000-83479800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:83478000-83479800	Active TSS	Brain Hippocampus Middle	brain
21	chr15:83478000-83479800	Active TSS	Small Intestine	intestine
22	chr15:83478000-83480200	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr15:83478000-83480200	Active TSS	Fetal Muscle Trunk	muscle
24	chr15:83478000-83480200	Active TSS	Placenta	Placenta
25	chr15:83478000-83480400	Active TSS	Aorta	Aorta
26	chr15:83478000-83480400	Active TSS	Fetal Intestine Small	intestine
27	chr15:83478000-83480400	Active TSS	Fetal Kidney	kidney
28	chr15:83478000-83480400	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr15:83478000-83480400	Active TSS	Ovary	ovary
30	chr15:83478000-83480400	Active TSS	Right Ventricle	heart
31	chr15:83478000-83480400	Active TSS	Stomach Smooth Muscle	stomach
32	chr15:83478000-83480600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr15:83478000-83480800	Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr15:83478000-83480800	Active TSS	NH-A	brain
35	chr15:83478000-83481000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr15:83478000-83481400	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr15:83478200-83479600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr15:83478200-83479600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr15:83478200-83479600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:83478200-83479600	Active TSS	Brain Substantia Nigra	brain
41	chr15:83478200-83479600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr15:83478200-83479600	Active TSS	Fetal Lung	lung
43	chr15:83478200-83479600	Active TSS	Rectal Smooth Muscle	rectum
44	chr15:83478200-83479600	Active TSS	Monocytes-CD14+_RO01746	blood
45	chr15:83478200-83479800	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr15:83478200-83479800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr15:83478200-83479800	Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr15:83478200-83479800	Active TSS	Colon Smooth Muscle	Colon
49	chr15:83478200-83479800	Active TSS	Fetal Muscle Leg	muscle
50	chr15:83478200-83479800	Active TSS	Skeletal Muscle Male	skeletal muscle

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