Variant report

Variant	esv1836031
Chromosome Location	chr15:27112265-27189168
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	ARID3A	chr15:27134497-27134889	HepG2	liver:	n/a	n/a
2	ARID3A	chr15:27134493-27134833	K562	blood:	n/a	n/a
3	ATF3	chr15:27111939-27112384	A549	lung:	n/a	n/a
4	BACH1	chr15:27137280-27137360	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr15:27112751-27113107	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr15:27134668-27134788	K562	blood:	n/a	n/a
7	BHLHE40	chr15:27136559-27136884	K562	blood:	n/a	n/a
8	BHLHE40	chr15:27134043-27134187	HepG2	liver:	n/a	n/a
9	CEBPB	chr15:27151224-27151479	A549	lung:	n/a	chr15:27151341-27151352
10	CEBPB	chr15:27151202-27151425	HepG2	liver:	n/a	chr15:27151341-27151352
11	CEBPB	chr15:27112442-27112550	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr15:27114715-27114982	HepG2	liver:	n/a	chr15:27114869-27114880 chr15:27114868-27114881
13	CEBPB	chr15:27158281-27158285	K562	blood:	n/a	n/a
14	CEBPB	chr15:27151220-27151487	IMR90	lung:	n/a	chr15:27151341-27151352
15	CHD1	chr15:27112992-27113184	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD1	chr15:27112477-27112503	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr15:27112006-27112656	H1-hESC	embryonic stem cell:	n/a	chr15:27112251-27112261
18	CREB1	chr15:27112014-27112407	A549	lung:	n/a	n/a
19	CTBP2	chr15:27111373-27113610	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr15:27123880-27124030	A549	lung:	n/a	n/a
21	CTCF	chr15:27136315-27136381	GM12891	blood:	n/a	n/a
22	CTCF	chr15:27136620-27136770	GM12874	blood:	n/a	chr15:27136677-27136698 chr15:27136675-27136693 chr15:27136678-27136691 chr15:27136676-27136692
23	CTCF	chr15:27134560-27134710	HMEC	breast:	n/a	chr15:27134639-27134660 chr15:27134637-27134655
24	CTCF	chr15:27112055-27112300	K562	blood:	n/a	n/a
25	CTCF	chr15:27134529-27134778	Lung_OC	lung:	n/a	chr15:27134639-27134660 chr15:27134637-27134655
26	CTCF	chr15:27112080-27112313	Medullo	brain:	n/a	n/a
27	CTCF	chr15:27134560-27134710	HPAF	blood vessel:	n/a	chr15:27134639-27134660 chr15:27134637-27134655
28	CTCF	chr15:27112160-27112310	A549	lung:	n/a	n/a
29	CTCF	chr15:27134431-27134862	GM12878	blood:	n/a	chr15:27134639-27134660 chr15:27134637-27134655
30	CTCF	chr15:27112077-27112340	IMR90	lung:	n/a	n/a
31	CTCF	chr15:27112097-27112283	Pancreas_OC	pancreas:	n/a	n/a
32	CTCF	chr15:27112120-27112270	AG09309	skin:	n/a	n/a
33	CTCF	chr15:27136532-27136767	A549	lung:	n/a	chr15:27136677-27136698 chr15:27136675-27136693 chr15:27136678-27136691 chr15:27136676-27136692
34	CTCF	chr15:27134400-27134884	A549	lung:	n/a	chr15:27134639-27134660 chr15:27134637-27134655
35	CTCF	chr15:27136640-27136790	AG09319	gingival:	n/a	chr15:27136677-27136698 chr15:27136675-27136693 chr15:27136678-27136691 chr15:27136676-27136692
36	CTCF	chr15:27134500-27134650	HFF-Myc	foreskin:	n/a	n/a
37	CTCF	chr15:27136563-27136781	Medullo	brain:	n/a	chr15:27136677-27136698 chr15:27136675-27136693 chr15:27136678-27136691 chr15:27136676-27136692
38	CTCF	chr15:27136268-27136904	K562	blood:	n/a	chr15:27136677-27136698 chr15:27136675-27136693 chr15:27136678-27136691 chr15:27136676-27136692
39	CTCF	chr15:27136620-27136770	AG10803	skin:	n/a	chr15:27136677-27136698 chr15:27136675-27136693 chr15:27136678-27136691 chr15:27136676-27136692
40	CTCF	chr15:27134321-27134327	GM10248	blood:	n/a	n/a
41	CTCF	chr15:27134440-27134590	NHLF	lung:	n/a	n/a
42	CTCF	chr15:27136640-27136790	GM12878	blood:	n/a	chr15:27136677-27136698 chr15:27136675-27136693 chr15:27136678-27136691 chr15:27136676-27136692
43	CTCF	chr15:27136620-27136770	GM06990	blood:	n/a	chr15:27136677-27136698 chr15:27136675-27136693 chr15:27136678-27136691 chr15:27136676-27136692
44	CTCF	chr15:27136548-27136838	GM12891	blood:	n/a	chr15:27136677-27136698 chr15:27136675-27136693 chr15:27136678-27136691 chr15:27136676-27136692
45	CTCF	chr15:27136640-27136790	HCFaa	heart:	n/a	chr15:27136677-27136698 chr15:27136675-27136693 chr15:27136678-27136691 chr15:27136676-27136692
46	CTCF	chr15:27136620-27136770	GM12864	blood:	n/a	chr15:27136677-27136698 chr15:27136675-27136693 chr15:27136678-27136691 chr15:27136676-27136692
47	CTCF	chr15:27134526-27134806	GM13977	blood:	n/a	chr15:27134639-27134660 chr15:27134637-27134655
48	CTCF	chr15:27134547-27134747	MCF-7	breast:	n/a	chr15:27134639-27134660 chr15:27134637-27134655
49	CTCF	chr15:27112140-27112290	NHEK	skin:	n/a	n/a
50	CTCF	chr15:27112140-27112290	SK-N-SH_RA	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:27184849-27184899	HCPEpiC	choroid plexus:	n/a
2	chr15:27128279-27128329	HCM	heart:	n/a
3	chr15:27184849-27184899	HCPEpiC	choroid plexus:	n/a
4	chr15:27128279-27128329	HCM	heart:	n/a
5	chr15:27113322-27113372	NB4	blood:	n/a
6	chr15:27188474-27188524	BJ	skin:	n/a
7	chr15:27160007-27160057	AG04450	lung:	fetal
8	chr15:27128934-27128984	HIPEpiC	eye:	n/a
9	chr15:27185073-27185123	Hela-S3	cervix:	n/a
10	chr15:27115918-27115968	SKMC	muscle:	n/a
11	chr15:27160007-27160057	HIPEpiC	eye:	n/a
12	chr15:27112305-27112355	Hepatocyte	liver:	n/a
13	chr15:27114644-27114694	AG09319	gingival:	n/a
14	chr15:27128633-27128683	SKMC	muscle:	n/a
15	chr15:27128315-27128365	AoSMC	blood vessel:	n/a
16	chr15:27112430-27112480	AG10803	skin:	n/a
17	chr15:27113511-27113561	AG04449	skin:	fetal
18	chr15:27185073-27185123	NH-A	brain:	n/a
19	chr15:27184766-27184816	HMEC	breast:	n/a
20	chr15:27159158-27159208	BE2_C	brain:	n/a
21	chr15:27159158-27159208	AG09309	skin:	n/a
22	chr15:27159158-27159208	NH-A	brain:	n/a
23	chr15:27128315-27128365	ovcar-3	ovarian:	n/a
24	chr15:27115918-27115968	NHDF-neo	bronchial:	n/a
25	chr15:27159158-27159208	NB4	blood:	n/a
26	chr15:27112287-27112337	HRCEpiC	kidney:	n/a
27	chr15:27185073-27185123	BJ	skin:	n/a
28	chr15:27112902-27112952	PANC-1	pancreas:	n/a
29	chr15:27188474-27188524	HMEC	breast:	n/a
30	chr15:27127627-27127677	HEEpiC	esophagus:	n/a
31	chr15:27129196-27129246	NB4	blood:	n/a
32	chr15:27188474-27188524	NHBE	bronchial:	n/a
33	chr15:27127627-27127677	K562	blood:	n/a
34	chr15:27113322-27113372	NHBE	bronchial:	n/a
35	chr15:27129196-27129246	PANC-1	pancreas:	n/a
36	chr15:27114748-27114798	SK-N-MC	brain:	n/a
37	chr15:27128934-27128984	GM12878	blood:	n/a
38	chr15:27113511-27113561	H1-hESC	embryonic stem cell:	embryo
39	chr15:27188474-27188524	A549	lung:	n/a
40	chr15:27114748-27114798	HNPCEpiC	eye:	n/a
41	chr15:27184849-27184899	SK-N-SH	brain:	n/a
42	chr15:27184766-27184816	HNPCEpiC	eye:	n/a
43	chr15:27128934-27128984	HUVEC	blood vessel:	n/a
44	chr15:27184766-27184816	NHBE	bronchial:	n/a
45	chr15:27135732-27135782	NH-A	brain:	n/a
46	chr15:27159158-27159208	GM12878	blood:	n/a
47	chr15:27128633-27128683	HIPEpiC	eye:	n/a
48	chr15:27112902-27112952	RPTEC	kidney:	n/a
49	chr15:27112305-27112355	MCF-7	breast:	n/a
50	chr15:27159158-27159208	SK-N-MC	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:27136052..27136718-chr15:27603685..27604617,3	K562	blood:
2	chr15:27136284..27136866-chr15:27483457..27484014,2	MCF-7	breast:
3	chr15:27134906..27135434-chr15:27262115..27262622,2	K562	blood:
4	chr15:27136140..27136747-chr15:28368325..28369225,2	K562	blood:
5	chr15:27104452..27106975-chr15:27118401..27120566,2	MCF-7	breast:
6	chr15:27136579..27137132-chr15:27603574..27604533,2	MCF-7	breast:
7	chr15:27134270..27135189-chr15:27262263..27262991,4	MCF-7	breast:
8	chr15:27134395..27135252-chr15:28368169..28369213,4	MCF-7	breast:
9	chr15:27110118..27111814-chr15:27112231..27114077,2	K562	blood:
10	chr15:27137453..27138159-chr15:27262133..27262801,2	K562	blood:
11	chr15:27133971..27134886-chr15:27262093..27262991,5	K562	blood:
12	chr15:27136415..27136933-chr15:27263657..27264556,2	MCF-7	breast:
13	chr15:27136175..27137669-chr15:27262093..27262995,10	MCF-7	breast:
14	chr15:27135652..27137225-chr15:27262027..27263091,9	K562	blood:
15	chr15:27180057..27182941-chr15:27183645..27186198,2	K562	blood:
16	chr15:27134151..27137724-chr15:27261888..27263462,35	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GABRG3-4	chr15:27112267-27112531	NONHSAT041195
2	lnc-GABRG3-4	chr15:27113876-27113940	NONHSAT041195
3	lnc-GABRG3-4	chr15:27122816-27122831	NONHSAT041195
4	lnc-GABRG3-4	chr15:27114322-27114481	NONHSAT041195

Variant related genes	Relation type
GABRA5	TF binding region
GABRB3	TF binding region
GABRA5	CpG island
GABRB3	CpG island
ENSG00000166206	chromatin interactions
ENSG00000186297	chromatin interactions

Extended variants
information (count: 2656 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:2656 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538906042	chr15:27112270-27112271	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs377718116	chr15:27112291-27112292	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs558450279	chr15:27112370-27112371	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs371063455	chr15:27112396-27112397	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs11557206	chr15:27112413-27112414	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs552768774	chr15:27112474-27112475	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs571675375	chr15:27112486-27112487	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs374211890	chr15:27112511-27112512	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs8041106	chr15:27112522-27112523	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs560603720	chr15:27112622-27112623	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs574473360	chr15:27112630-27112631	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs112103418	chr15:27112640-27112641	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs369375295	chr15:27112700-27112701	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs563891963	chr15:27112702-27112703	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs532617531	chr15:27112720-27112721	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs546484976	chr15:27112729-27112730	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs560097294	chr15:27112738-27112739	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs528446747	chr15:27112743-27112744	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs185514208	chr15:27112744-27112745	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs568505509	chr15:27112761-27112762	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs531017257	chr15:27112806-27112807	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs550822074	chr15:27112841-27112842	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs569806456	chr15:27112911-27112912	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs61996950	chr15:27112950-27112951	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs553765324	chr15:27113004-27113005	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs565643226	chr15:27113256-27113257	Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs534647119	chr15:27113266-27113267	Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs189512389	chr15:27113267-27113268	Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs574384135	chr15:27113268-27113269	Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs543475676	chr15:27113302-27113303	Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs531838868	chr15:27113357-27113358	Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs556794227	chr15:27113406-27113407	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs577327675	chr15:27113494-27113495	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs372567972	chr15:27113500-27113501	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs371423435	chr15:27113528-27113529	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs546421685	chr15:27113542-27113543	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs374560555	chr15:27113579-27113580	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs560032558	chr15:27113686-27113687	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs528783531	chr15:27113695-27113696	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs148180734	chr15:27113704-27113705	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs542284714	chr15:27113745-27113746	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs562090572	chr15:27113759-27113760	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs545611159	chr15:27113787-27113788	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs530834553	chr15:27113968-27113969	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs551021734	chr15:27114021-27114022	Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs377249478	chr15:27114065-27114066	Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs561917692	chr15:27114134-27114135	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570868422	chr15:27114175-27114176	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532131679	chr15:27114213-27114214	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551951359	chr15:27114230-27114231	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
idiopathic generalized epilepsy	19843651	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
abnormal development	18461090	CNVD
Prader-willi syndrome	21504564	CNVD
The inv dup or idic syndrome	19019226	CNVD
Prader-willi syndrome	21233802	CNVD
Angelman syndrome	16617304	CNVD
Angelman syndrome	20970697	CNVD
Autism	22958593	CNVD
Prader-willi syndrome	16617304	CNVD
Prader-willi syndrome	18923514	CNVD
Prader-willi syndrome	20970697	CNVD
Angelman syndrome	16183798	CNVD
Angelman syndrome	18923514	CNVD
Prader-willi syndrome	22241247	CNVD
Epilepsy	20970697	CNVD
Autism	20970697	CNVD
Autism	19935738	CNVD
Autism	22930557	CNVD
Autism	19966786	CNVD
Autism	18923514	CNVD
Autism	18925931	CNVD
Autism	18835857	CNVD
Prader-willi syndrome	18835857	CNVD
Prader-willi syndrome	22152151	CNVD
Autism	22241247	CNVD
15q-syndrome	21725066	CNVD
Prader-willi syndrome	21503198	CNVD
Autism	21956041	CNVD
Prader-willi syndrome	16760730	CNVD
Prader-willi syndrome	22470819	CNVD
prenatal diagnosis	20453657	CNVD
Prader-willi syndrome	17867985	CNVD
Angelman syndrome	21072004	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Testicular germ cell tumor	18059402	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
Hodgkin''s lymphoma	18641027	CNVD
Prader-willi syndrome	18781185	CNVD
Melanoma	18172304	CNVD
Angelman syndrome	21824424	CNVD
Prader-willi syndrome	21824424	CNVD
Autism	18522746	CNVD
Autism	17322880	CNVD
Prader-willi syndrome	19329560	CNVD
Autism	17999366	CNVD
Autism	17901113	CNVD
Neurodevelopmental disorder	17015230	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	18923513	CNVD
Colorectal cancer	16774939	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Schizophrenia	19197363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Central neurocytomas	17123091	CNVD
Angelman syndrome	18787571	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Abnormal corpus callosum	21572526	CNVD
Ovarian cancer	22355333	CNVD
Autism	20531469	CNVD
Autism	22543975	CNVD
Cancer	20164919	CNVD
Schizophrenia	17989066	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:457 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:27111200-27114000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr15:27111400-27113600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr15:27111400-27113600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr15:27111600-27112800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr15:27111600-27113200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr15:27111600-27113200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:27111800-27112400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr15:27111800-27112400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
9	chr15:27111800-27112400	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
10	chr15:27111800-27112400	Bivalent Enhancer	Esophagus	oesophagus
11	chr15:27111800-27112400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
12	chr15:27111800-27112600	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr15:27111800-27113000	Bivalent Enhancer	Fetal Lung	lung
14	chr15:27111800-27113400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr15:27111800-27113600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr15:27111800-27113600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr15:27111800-27113600	Active TSS	NH-A	brain
18	chr15:27111800-27114000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
19	chr15:27111800-27114000	Bivalent Enhancer	Fetal Brain Male	brain
20	chr15:27111800-27114000	Active TSS	A549	lung
21	chr15:27112000-27112400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:27112000-27112400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr15:27112000-27112400	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
24	chr15:27112000-27112400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
25	chr15:27112000-27112600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr15:27112000-27112600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr15:27112000-27112800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr15:27112000-27112800	Enhancers	Gastric	stomach
29	chr15:27112000-27112800	Bivalent Enhancer	Spleen	Spleen
30	chr15:27112000-27113000	Enhancers	Pancreas	Pancrea
31	chr15:27112000-27113000	Flanking Bivalent TSS/Enh	Right Ventricle	heart
32	chr15:27112000-27113200	Active TSS	H9 Cell Line	embryonic stem cell
33	chr15:27112000-27113400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr15:27112000-27113600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
35	chr15:27112000-27113600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
36	chr15:27112000-27113800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
37	chr15:27112000-27113800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr15:27112000-27114000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
39	chr15:27112000-27114000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
40	chr15:27112000-27114000	Bivalent/Poised TSS	Fetal Brain Female	brain
41	chr15:27112200-27112400	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr15:27112200-27112400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr15:27112200-27112400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr15:27112200-27112400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr15:27112200-27112400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr15:27112200-27112400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr15:27112200-27112400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr15:27112200-27112400	Bivalent Enhancer	Brain Germinal Matrix	brain
49	chr15:27112200-27112400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
50	chr15:27112200-27112600	Active TSS	Placenta Amnion	Placenta Amnion

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