Variant report

Variant	esv3373113
Chromosome Location	chr7:127030941-127033489
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	chr7:127032260-127032357	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:127030005-127031186	K562	blood:	n/a	n/a
3	ARID3A	chr7:127032605-127032883	K562	blood:	n/a	n/a
4	ATF1	chr7:127032627-127032946	K562	blood:	n/a	n/a
5	ATF2	chr7:127032969-127033471	GM12878	blood:	n/a	n/a
6	ATF2	chr7:127032490-127032929	GM12878	blood:	n/a	n/a
7	ATF2	chr7:127032180-127032447	GM12878	blood:	n/a	n/a
8	ATF2	chr7:127032075-127033378	GM12878	blood:	n/a	n/a
9	ATF3	chr7:127032504-127033255	A549	lung:	n/a	chr7:127032969-127032978
10	ATF3	chr7:127032574-127032974	A549	lung:	n/a	n/a
11	BACH1	chr7:127031783-127032485	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr7:127032784-127033301	H1-hESC	embryonic stem cell:	n/a	n/a
13	BATF	chr7:127032600-127032927	GM12878	blood:	n/a	n/a
14	BCL11A	chr7:127032127-127032451	GM12878	blood:	n/a	chr7:127032429-127032442 chr7:127032340-127032349
15	BCL3	chr7:127032444-127032924	A549	lung:	n/a	chr7:127032788-127032797
16	BCLAF1	chr7:127032079-127033345	GM12878	blood:	n/a	chr7:127032429-127032442 chr7:127032987-127033000 chr7:127032340-127032349 chr7:127032970-127032979 chr7:127033122-127033131 chr7:127032788-127032797
17	BCLAF1	chr7:127031472-127033237	K562	blood:	n/a	chr7:127032429-127032442 chr7:127032008-127032021 chr7:127032987-127033000 chr7:127032340-127032349 chr7:127032970-127032979 chr7:127033122-127033131 chr7:127032788-127032797
18	BCLAF1	chr7:127031738-127033424	GM12878	blood:	n/a	chr7:127032429-127032442 chr7:127032008-127032021 chr7:127032987-127033000 chr7:127032340-127032349 chr7:127032970-127032979 chr7:127033122-127033131 chr7:127032788-127032797
19	BHLHE40	chr7:127031825-127033653	GM12878	blood:	n/a	chr7:127032426-127032442 chr7:127032018-127032034 chr7:127032418-127032434
20	BHLHE40	chr7:127031977-127033252	HepG2	liver:	n/a	chr7:127032426-127032442 chr7:127032018-127032034 chr7:127032418-127032434
21	BHLHE40	chr7:127031196-127031199	K562	blood:	n/a	n/a
22	BHLHE40	chr7:127031709-127033429	K562	blood:	n/a	chr7:127032426-127032442 chr7:127032018-127032034 chr7:127032418-127032434
23	BRCA1	chr7:127032668-127033339	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr7:127032317-127032468	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr7:127031612-127031690	GM12878	blood:	n/a	n/a
26	CBX3	chr7:127032050-127033727	K562	blood:	n/a	n/a
27	CCNT2	chr7:127031495-127033171	K562	blood:	n/a	n/a
28	CEBPB	chr7:127030849-127031205	IMR90	lung:	n/a	chr7:127031009-127031022 chr7:127031011-127031020 chr7:127031011-127031020 chr7:127031011-127031020 chr7:127031009-127031022 chr7:127031009-127031020
29	CEBPB	chr7:127030817-127031444	K562	blood:	n/a	chr7:127031009-127031022 chr7:127031011-127031020 chr7:127031011-127031020 chr7:127031011-127031020 chr7:127031009-127031022 chr7:127031009-127031020
30	CEBPB	chr7:127030878-127031138	H1-hESC	embryonic stem cell:	n/a	chr7:127031009-127031022 chr7:127031011-127031020 chr7:127031011-127031020 chr7:127031011-127031020 chr7:127031009-127031022 chr7:127031009-127031020
31	CEBPB	chr7:127031665-127032277	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr7:127032955-127033504	GM12878	blood:	n/a	n/a
33	CEBPB	chr7:127032621-127033249	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr7:127030833-127031201	HepG2	liver:	n/a	chr7:127031009-127031022 chr7:127031011-127031020 chr7:127031011-127031020 chr7:127031011-127031020 chr7:127031009-127031022 chr7:127031009-127031020
35	CEBPB	chr7:127030785-127031284	A549	lung:	n/a	chr7:127031009-127031022 chr7:127031011-127031020 chr7:127031011-127031020 chr7:127031011-127031020 chr7:127031009-127031022 chr7:127031009-127031020
36	CEBPB	chr7:127030839-127031207	A549	lung:	n/a	chr7:127031009-127031022 chr7:127031011-127031020 chr7:127031011-127031020 chr7:127031011-127031020 chr7:127031009-127031022 chr7:127031009-127031020
37	CEBPB	chr7:127030825-127031256	Hela-S3	cervix:	n/a	chr7:127031009-127031022 chr7:127031011-127031020 chr7:127031011-127031020 chr7:127031011-127031020 chr7:127031009-127031022 chr7:127031009-127031020
38	CEBPD	chr7:127032444-127033050	HepG2	liver:	n/a	n/a
39	CEBPD	chr7:127032640-127032901	HepG2	liver:	n/a	n/a
40	CEBPD	chr7:127032061-127033416	K562	blood:	n/a	n/a
41	CHD1	chr7:127031088-127033775	IMR90	lung:	n/a	chr7:127032379-127032389
42	CHD1	chr7:127031814-127031896	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD1	chr7:127031517-127033358	GM12878	blood:	n/a	chr7:127032379-127032389
44	CHD2	chr7:127032154-127032455	H1-hESC	embryonic stem cell:	n/a	chr7:127032379-127032389
45	CHD2	chr7:127032094-127033324	GM12878	blood:	n/a	chr7:127032379-127032389
46	CHD2	chr7:127032661-127032755	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD2	chr7:127031659-127031789	GM12878	blood:	n/a	n/a
48	CHD2	chr7:127032099-127033169	HepG2	liver:	n/a	chr7:127032379-127032389
49	CHD2	chr7:127031786-127033187	Hela-S3	cervix:	n/a	chr7:127032379-127032389
50	CHD2	chr7:127031959-127033427	K562	blood:	n/a	chr7:127032379-127032389

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:127032423-127032473	AG09309	skin:	n/a
2	chr7:127032423-127032473	AG09309	skin:	n/a
3	chr7:127031314-127031364	HCF	heart:	n/a
4	chr7:127033403-127033453	AG10803	skin:	n/a
5	chr7:127032423-127032473	IMR90	lung:	fetal
6	chr7:127031314-127031364	HEK293	kidney:	embryo
7	chr7:127032423-127032473	HRCEpiC	kidney:	n/a
8	chr7:127032512-127032562	HAEpiC	amniotic membrane:	n/a
9	chr7:127031624-127031674	SAEC	small airway:	n/a
10	chr7:127032509-127032559	GM19239	blood:	n/a
11	chr7:127032509-127032559	SK-N-SH	brain:	n/a
12	chr7:127032512-127032562	LNCaP	prostate:	n/a
13	chr7:127033083-127033133	T-47D	breast:	n/a
14	chr7:127032509-127032559	HL-60	blood:	n/a
15	chr7:127033403-127033453	GM19239	blood:	n/a
16	chr7:127033083-127033133	GM12891	blood:	n/a
17	chr7:127032075-127032125	Hepatocyte	liver:	n/a
18	chr7:127033403-127033453	HL-60	blood:	n/a
19	chr7:127033361-127033411	HEEpiC	esophagus:	n/a
20	chr7:127032423-127032473	GM12892	blood:	n/a
21	chr7:127031624-127031674	IMR90	lung:	fetal
22	chr7:127033403-127033453	IMR90	lung:	fetal
23	chr7:127032423-127032473	AG09319	gingival:	n/a
24	chr7:127032509-127032559	SK-N-MC	brain:	n/a
25	chr7:127031624-127031674	GM06990	blood:	n/a
26	chr7:127032509-127032559	RPTEC	kidney:	n/a
27	chr7:127033083-127033133	GM12892	blood:	n/a
28	chr7:127031624-127031674	AG09309	skin:	n/a
29	chr7:127033083-127033133	LNCaP	prostate:	n/a
30	chr7:127033403-127033453	HNPCEpiC	eye:	n/a
31	chr7:127031314-127031364	HIPEpiC	eye:	n/a
32	chr7:127033403-127033453	Caco-2	colon:	n/a
33	chr7:127031624-127031674	SK-N-SH	brain:	n/a
34	chr7:127032512-127032562	H1-hESC	embryonic stem cell:	embryo
35	chr7:127032509-127032559	Hela-S3	cervix:	n/a
36	chr7:127033083-127033133	ovcar-3	ovarian:	n/a
37	chr7:127032509-127032559	NHDF-neo	bronchial:	n/a
38	chr7:127032075-127032125	NB4	blood:	n/a
39	chr7:127031314-127031364	PFSK-1	brain:	n/a
40	chr7:127033361-127033411	K562	blood:	n/a
41	chr7:127032423-127032473	MCF-7	breast:	n/a
42	chr7:127032075-127032125	HNPCEpiC	eye:	n/a
43	chr7:127032423-127032473	GM19239	blood:	n/a
44	chr7:127033361-127033411	U87	brain:	n/a
45	chr7:127032423-127032473	CMK	blood:	n/a
46	chr7:127031624-127031674	ovcar-3	ovarian:	n/a
47	chr7:127032512-127032562	GM12892	blood:	n/a
48	chr7:127033403-127033453	HPAEpiC	pulmonary alveolar:	n/a
49	chr7:127032512-127032562	HPAEpiC	pulmonary alveolar:	n/a
50	chr7:127032509-127032559	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:62971494..62972104-chr7:127032744..127033587,2	HCT-116	colon:
2	chr7:127030702..127032822-chr7:127225677..127228410,2	K562	blood:
3	chr14:102553303..102554240-chr7:127032162..127032878,2	NB4	blood:
4	chr17:80249999..80250802-chr7:127032311..127032883,2	Hela-S3	cervix:
5	chr7:127030999..127034277-chr7:127071570..127073569,4	K562	blood:
6	chr10:101380696..101381430-chr7:127032220..127032848,2	Hela-S3	cervix:
7	chr7:126892205..126895115-chr7:127030974..127032697,2	MCF-7	breast:
8	chr7:126891429..126894759-chr7:127030328..127033331,3	K562	blood:
9	chr7:126986612..126990415-chr7:127030676..127033732,5	MCF-7	breast:
10	chr7:127029926..127034103-chr7:127290516..127296284,10	K562	blood:
11	chr7:126890989..126892929-chr7:127030143..127031828,2	K562	blood:
12	chr7:127031743..127033878-chr8:109462577..109465197,2	K562	blood:
13	chr5:149829217..149829932-chr7:127032306..127032836,2	Hela-S3	cervix:
14	chr17:57914420..57916265-chr7:127031107..127033179,2	MCF-7	breast:
15	chr7:126980512..126983635-chr7:127032976..127036223,3	K562	blood:
16	chr7:126987100..126989492-chr7:127030062..127031935,2	K562	blood:
17	chr7:127029421..127032644-chr7:127225849..127230043,4	K562	blood:
18	chr7:127029920..127034279-chr7:127291168..127294285,4	MCF-7	breast:
19	chr7:127011403..127015656-chr7:127030018..127033626,5	MCF-7	breast:
20	7:127018926-127031401..7:127225864-127233104	GM12878	blood:
21	chr7:127029710..127031425-chr7:127223737..127226440,2	MCF-7	breast:
22	chr7:127028627..127034604-chr7:127290902..127294330,10	K562	blood:
23	chr7:124568199..124570049-chr7:127030538..127032262,2	K562	blood:
24	chr16:30406383..30407257-chr7:127032814..127033615,2	NB4	blood:
25	chr10:88818573..88820601-chr7:127031334..127033710,2	MCF-7	breast:
26	chr7:127031057..127033330-chr7:127290561..127293507,3	MCF-7	breast:
27	chr7:126892951..126894660-chr7:127031651..127034423,2	MCF-7	breast:
28	chr1:148240966..148241528-chr7:127032372..127032892,2	Hela-S3	cervix:
29	chr7:127030656..127034603-chr7:127225190..127230310,7	MCF-7	breast:
30	chr7:126985549..126992875-chr7:127029251..127034121,12	K562	blood:

Variant related genes	Relation type
ZNF800	TF binding region
ZNF800	CpG island
ENSG00000106328	chromatin interactions
ENSG00000179562	chromatin interactions
ENSG00000179603	chromatin interactions
ENSG00000260475	chromatin interactions
ENSG00000224138	chromatin interactions
ENSG00000080824	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000104412	chromatin interactions
ENSG00000004059	chromatin interactions
ENSG00000148672	chromatin interactions
ENSG00000207501	chromatin interactions
ENSG00000265692	chromatin interactions
ENSG00000214174	chromatin interactions
ENSG00000197157	chromatin interactions
ENSG00000048405	chromatin interactions
ENSG00000180035	chromatin interactions
ENSG00000128513	chromatin interactions
ENSG00000224897	chromatin interactions
ENSG00000164587	chromatin interactions
ENSG00000240790	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535484371	chr7:127031032-127031033	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs530480550	chr7:127031059-127031060	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs183981273	chr7:127031093-127031094	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs151307873	chr7:127031141-127031142	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs369880277	chr7:127031161-127031162	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs534904092	chr7:127031230-127031231	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs188463398	chr7:127031257-127031258	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs180849745	chr7:127031281-127031282	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs536192294	chr7:127031312-127031313	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs557071528	chr7:127031315-127031316	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs185670008	chr7:127031452-127031453	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs370887608	chr7:127031501-127031502	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs139689292	chr7:127031508-127031509	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs368204838	chr7:127031516-127031517	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs370682389	chr7:127031534-127031535	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs573405557	chr7:127031543-127031544	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs541202598	chr7:127031560-127031561	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs367841157	chr7:127031564-127031565	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs138285367	chr7:127031567-127031568	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs559631790	chr7:127031568-127031569	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs149622437	chr7:127031571-127031572	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs200111590	chr7:127031572-127031573	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs542115344	chr7:127031589-127031590	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs563090104	chr7:127031593-127031594	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs530548972	chr7:127031618-127031619	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs371776224	chr7:127031625-127031626	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs200317608	chr7:127031636-127031637	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs375960751	chr7:127031648-127031649	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs551950627	chr7:127031662-127031663	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs375745229	chr7:127031666-127031667	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs374655208	chr7:127031688-127031689	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs144065149	chr7:127031714-127031715	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs528201075	chr7:127031719-127031720	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs78921837	chr7:127031729-127031730	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs28439181	chr7:127031847-127031848	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs535736462	chr7:127031852-127031853	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs551261975	chr7:127031859-127031860	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs569132402	chr7:127031881-127031882	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs539839286	chr7:127031892-127031893	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs28729203	chr7:127031917-127031918	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs373250125	chr7:127031982-127031983	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs566964834	chr7:127031993-127031994	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs534328644	chr7:127032043-127032044	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs553161098	chr7:127032105-127032106	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs144396858	chr7:127032133-127032134	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs574577573	chr7:127032154-127032155	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs541729811	chr7:127032269-127032270	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
48	rs557237635	chr7:127032330-127032331	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
49	rs575483712	chr7:127032345-127032346	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
50	rs545371909	chr7:127032363-127032364	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20808228	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:476 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126988400-127031400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:126988400-127031400	Weak transcription	Colonic Mucosa	Colon
3	chr7:126988400-127031400	Weak transcription	Pancreas	Pancrea
4	chr7:126989000-127031000	Weak transcription	Fetal Brain Male	brain
5	chr7:126997400-127031200	Weak transcription	Brain Substantia Nigra	brain
6	chr7:126999400-127031400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:127001600-127031200	Weak transcription	Fetal Stomach	stomach
8	chr7:127001600-127031400	Weak transcription	Brain Angular Gyrus	brain
9	chr7:127001600-127031400	Weak transcription	Esophagus	oesophagus
10	chr7:127001600-127031400	Weak transcription	Gastric	stomach
11	chr7:127001600-127031400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr7:127001600-127031400	Weak transcription	Right Ventricle	heart
13	chr7:127010200-127031400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:127013800-127031200	Weak transcription	Fetal Brain Female	brain
15	chr7:127014400-127031000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:127015000-127031000	Weak transcription	Brain Anterior Caudate	brain
17	chr7:127015000-127031200	Weak transcription	Brain Hippocampus Middle	brain
18	chr7:127015000-127031200	Weak transcription	Thymus	Thymus
19	chr7:127015000-127031200	Weak transcription	HSMMtube	muscle
20	chr7:127015000-127031400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr7:127015000-127031400	Weak transcription	Fetal Kidney	kidney
22	chr7:127015000-127031400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr7:127015000-127031400	Weak transcription	Lung	lung
24	chr7:127015200-127031200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:127018200-127031200	Weak transcription	Brain Germinal Matrix	brain
26	chr7:127022200-127031200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:127023600-127031200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr7:127023600-127031200	Weak transcription	Stomach Mucosa	stomach
29	chr7:127023600-127031200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr7:127023600-127031400	Weak transcription	Fetal Muscle Leg	muscle
31	chr7:127023800-127031000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:127023800-127031200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:127023800-127031600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:127024200-127031000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr7:127024600-127031200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr7:127024800-127031200	Strong transcription	Primary B cells from peripheral blood	blood
37	chr7:127025200-127031200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr7:127027400-127031000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:127027600-127031000	Weak transcription	Colon Smooth Muscle	Colon
40	chr7:127027600-127031200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr7:127028000-127031200	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr7:127028000-127031200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:127028000-127031400	Weak transcription	Left Ventricle	heart
44	chr7:127028000-127031400	Weak transcription	Ovary	ovary
45	chr7:127028200-127031000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr7:127028200-127031200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:127028200-127031200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr7:127028200-127031200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr7:127028400-127031000	Strong transcription	HSMM	muscle
50	chr7:127028800-127031400	Weak transcription	Small Intestine	intestine

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