Variant report

Variant	nsv899393
Chromosome Location	chr12:85674707-85796968
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	chr12:85704287-85704562	HepG2	liver:	n/a	n/a
2	ATF2	chr12:85674234-85674859	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr12:85694864-85695174	GM12878	blood:	n/a	n/a
4	BRCA1	chr12:85674532-85675298	Hela-S3	cervix:	n/a	n/a
5	BRCA1	chr12:85725088-85725176	Hela-S3	cervix:	n/a	n/a
6	BRCA1	chr12:85763290-85763939	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr12:85688019-85688136	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr12:85766874-85767185	A549	lung:	n/a	n/a
9	CEBPB	chr12:85686722-85687025	Hela-S3	cervix:	n/a	chr12:85686874-85686883 chr12:85686874-85686883 chr12:85686872-85686885 chr12:85686872-85686883 chr12:85686874-85686883 chr12:85686872-85686885 chr12:85686872-85686885 chr12:85686874-85686885 chr12:85686874-85686885 chr12:85686874-85686883
10	CEBPB	chr12:85766898-85767160	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr12:85766849-85767176	IMR90	lung:	n/a	n/a
12	CEBPB	chr12:85722443-85722800	IMR90	lung:	n/a	chr12:85722609-85722620 chr12:85722608-85722621 chr12:85722608-85722619 chr12:85722735-85722752 chr12:85722610-85722619
13	CEBPB	chr12:85776529-85776577	A549	lung:	n/a	n/a
14	CEBPB	chr12:85766923-85767123	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr12:85686698-85687011	HepG2	liver:	n/a	chr12:85686874-85686883 chr12:85686874-85686883 chr12:85686872-85686885 chr12:85686872-85686883 chr12:85686874-85686883 chr12:85686872-85686885 chr12:85686872-85686885 chr12:85686874-85686885 chr12:85686874-85686885 chr12:85686874-85686883
16	CEBPB	chr12:85766861-85767198	HepG2	liver:	n/a	n/a
17	CEBPB	chr12:85718358-85718597	HepG2	liver:	n/a	n/a
18	CEBPB	chr12:85722452-85722751	K562	blood:	n/a	chr12:85722609-85722620 chr12:85722608-85722621 chr12:85722608-85722619 chr12:85722610-85722619
19	CEBPB	chr12:85722468-85722799	HepG2	liver:	n/a	chr12:85722609-85722620 chr12:85722608-85722621 chr12:85722608-85722619 chr12:85722735-85722752 chr12:85722610-85722619
20	CEBPB	chr12:85722457-85722786	A549	lung:	n/a	chr12:85722609-85722620 chr12:85722608-85722621 chr12:85722608-85722619 chr12:85722735-85722752 chr12:85722610-85722619
21	CEBPB	chr12:85686734-85687014	K562	blood:	n/a	chr12:85686874-85686883 chr12:85686874-85686883 chr12:85686872-85686885 chr12:85686872-85686883 chr12:85686874-85686883 chr12:85686872-85686885 chr12:85686872-85686885 chr12:85686874-85686885 chr12:85686874-85686885 chr12:85686874-85686883
22	CEBPB	chr12:85673583-85675940	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr12:85686742-85686942	A549	lung:	n/a	chr12:85686874-85686883 chr12:85686874-85686883 chr12:85686872-85686885 chr12:85686872-85686883 chr12:85686874-85686883 chr12:85686872-85686885 chr12:85686872-85686885 chr12:85686874-85686885 chr12:85686874-85686885 chr12:85686874-85686883
24	CEBPB	chr12:85722482-85722750	H1-hESC	embryonic stem cell:	n/a	chr12:85722609-85722620 chr12:85722608-85722621 chr12:85722608-85722619 chr12:85722610-85722619
25	CHD2	chr12:85673372-85675289	Hela-S3	cervix:	n/a	chr12:85673513-85673523
26	CHD2	chr12:85759437-85759734	K562	blood:	n/a	n/a
27	CREB1	chr12:85674483-85674811	A549	lung:	n/a	n/a
28	CREB1	chr12:85673779-85674985	H1-hESC	embryonic stem cell:	n/a	n/a
29	CREB1	chr12:85673876-85674778	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr12:85704357-85704519	SK-N-SH_RA	brain:	n/a	chr12:85704441-85704459 chr12:85704444-85704457 chr12:85704442-85704458 chr12:85704443-85704464
31	CTCF	chr12:85704714-85704785	GM12878	blood:	n/a	n/a
32	CTCF	chr12:85704399-85704571	GM12878	blood:	n/a	chr12:85704441-85704459 chr12:85704444-85704457 chr12:85704442-85704458 chr12:85704443-85704464
33	CTCF	chr12:85788620-85788770	MCF-7	breast:	n/a	n/a
34	CTCF	chr12:85704380-85704530	HCPEpiC	choroid plexus:	n/a	chr12:85704441-85704459 chr12:85704444-85704457 chr12:85704442-85704458 chr12:85704443-85704464
35	CTCF	chr12:85704320-85704621	A549	lung:	n/a	chr12:85704441-85704459 chr12:85704444-85704457 chr12:85704442-85704458 chr12:85704443-85704464
36	CTCF	chr12:85703980-85704130	NHEK	skin:	n/a	n/a
37	CTCF	chr12:85703940-85704090	HFF-Myc	foreskin:	n/a	n/a
38	CTCF	chr12:85704294-85704567	Medullo	brain:	n/a	chr12:85704441-85704459 chr12:85704444-85704457 chr12:85704442-85704458 chr12:85704443-85704464
39	CTCF	chr12:85788680-85788830	HMEC	breast:	n/a	n/a
40	CTCF	chr12:85704400-85704550	AG04450	lung:	n/a	chr12:85704441-85704459 chr12:85704444-85704457 chr12:85704442-85704458 chr12:85704443-85704464
41	CTCF	chr12:85704320-85704470	HUVEC	blood vessel:	n/a	chr12:85704441-85704459 chr12:85704444-85704457 chr12:85704442-85704458 chr12:85704443-85704464
42	CTCF	chr12:85703960-85704110	AG09319	gingival:	n/a	n/a
43	CTCF	chr12:85704560-85704710	GM12866	blood:	n/a	n/a
44	CTCF	chr12:85704460-85704610	AG09309	skin:	n/a	n/a
45	CTCF	chr12:85704340-85704490	NHDF-neo	bronchial:	n/a	chr12:85704441-85704459 chr12:85704444-85704457 chr12:85704442-85704458 chr12:85704443-85704464
46	CTCF	chr12:85704000-85704150	GM12864	blood:	n/a	n/a
47	CTCF	chr12:85704800-85704950	HRPEpiC	eye:	n/a	n/a
48	CTCF	chr12:85788660-85788810	HVMF	connective:	n/a	n/a
49	CTCF	chr12:85704420-85704570	BJ	skin:	n/a	chr12:85704441-85704459 chr12:85704444-85704457 chr12:85704442-85704458 chr12:85704443-85704464
50	CTCF	chr12:85704400-85704550	GM12875	blood:	n/a	chr12:85704441-85704459 chr12:85704444-85704457 chr12:85704442-85704458 chr12:85704443-85704464

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:85674694-85674744	AG09309	skin:	n/a
2	chr12:85674694-85674744	Hela-S3	cervix:	n/a
3	chr12:85674694-85674744	CMK	blood:	n/a
4	chr12:85677430-85677480	RPTEC	kidney:	n/a
5	chr12:85674694-85674744	NHBE	bronchial:	n/a
6	chr12:85677430-85677480	HEK293	kidney:	embryo
7	chr12:85674694-85674744	AG10803	skin:	n/a
8	chr12:85674694-85674744	HIPEpiC	eye:	n/a
9	chr12:85677430-85677480	SAEC	small airway:	n/a
10	chr12:85674694-85674744	GM19239	blood:	n/a
11	chr12:85677430-85677480	GM06990	blood:	n/a
12	chr12:85677430-85677480	HAEpiC	amniotic membrane:	n/a
13	chr12:85677430-85677480	ECC-1	luminal epithelium:	n/a
14	chr12:85674694-85674744	BE2_C	brain:	n/a
15	chr12:85677430-85677480	IMR90	lung:	fetal
16	chr12:85677430-85677480	MCF-7	breast:	n/a
17	chr12:85677430-85677480	HCPEpiC	choroid plexus:	n/a
18	chr12:85674694-85674744	HRPEpiC	eye:	n/a
19	chr12:85677430-85677480	A549	lung:	n/a
20	chr12:85674694-85674744	SK-N-SH_RA	brain:	n/a
21	chr12:85674694-85674744	Hepatocyte	liver:	n/a
22	chr12:85674694-85674744	MCF-7	breast:	n/a
23	chr12:85674694-85674744	SAEC	small airway:	n/a
24	chr12:85677430-85677480	ProgFib	skin:	n/a
25	chr12:85674694-85674744	HCM	heart:	n/a
26	chr12:85677430-85677480	GM19239	blood:	n/a
27	chr12:85674694-85674744	IMR90	lung:	fetal
28	chr12:85677430-85677480	T-47D	breast:	n/a
29	chr12:85677430-85677480	SKMC	muscle:	n/a
30	chr12:85674694-85674744	PrEC	prostate:	n/a
31	chr12:85677430-85677480	NT2-D1	testis:	n/a
32	chr12:85677430-85677480	PFSK-1	brain:	n/a
33	chr12:85674694-85674744	HCF	heart:	n/a
34	chr12:85674694-85674744	NH-A	brain:	n/a
35	chr12:85677430-85677480	NHDF-neo	bronchial:	n/a
36	chr12:85677430-85677480	AG09309	skin:	n/a
37	chr12:85674694-85674744	HRCEpiC	kidney:	n/a
38	chr12:85674694-85674744	HL-60	blood:	n/a
39	chr12:85677430-85677480	HRE	kidney:	n/a
40	chr12:85677430-85677480	HNPCEpiC	eye:	n/a
41	chr12:85674694-85674744	ECC-1	luminal epithelium:	n/a
42	chr12:85677430-85677480	NB4	blood:	n/a
43	chr12:85677430-85677480	AoSMC	blood vessel:	n/a
44	chr12:85677430-85677480	HPAEpiC	pulmonary alveolar:	n/a
45	chr12:85677430-85677480	CMK	blood:	n/a
46	chr12:85677430-85677480	HCM	heart:	n/a
47	chr12:85674694-85674744	U87	brain:	n/a
48	chr12:85674694-85674744	K562	blood:	n/a
49	chr12:85677430-85677480	U87	brain:	n/a
50	chr12:85677430-85677480	ovcar-3	ovarian:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:85767120..85767969-chr12:85795392..85796211,2	MCF-7	breast:
2	chr12:85712831..85715377-chr12:85729265..85730997,2	MCF-7	breast:
3	chr12:85713980..85716222-chr12:85718443..85721765,3	MCF-7	breast:
4	chr12:85688551..85691285-chr12:85694636..85697474,2	MCF-7	breast:
5	chr12:85693571..85695610-chr12:85696379..85699321,2	MCF-7	breast:
6	chr1:11968120..11968947-chr12:85674873..85675678,2	Hela-S3	cervix:
7	chr12:85688551..85691285-chr12:85694636..85697474,2	MCF-7	breast:
8	chr12:85713980..85716222-chr12:85718443..85721765,3	MCF-7	breast:
9	chr12:85767120..85767969-chr12:85795392..85796211,2	MCF-7	breast:
10	chr12:85704116..85704872-chr12:85842034..85842872,2	MCF-7	breast:
11	chr12:85703964..85704769-chr12:85788512..85789218,4	MCF-7	breast:
12	chr12:85703964..85704769-chr12:85788512..85789218,4	MCF-7	breast:
13	chr12:85735992..85737956-chr12:85742669..85744404,2	MCF-7	breast:
14	chr12:85704213..85704892-chr12:85788326..85789139,2	MCF-7	breast:
15	chr12:85745803..85747917-chr12:85750722..85752952,2	MCF-7	breast:
16	chr12:85704213..85704892-chr12:85788326..85789139,2	MCF-7	breast:
17	chr12:85712831..85715377-chr12:85729265..85730997,2	MCF-7	breast:
18	chr12:85745803..85747917-chr12:85750722..85752952,2	MCF-7	breast:
19	chr12:85735992..85737956-chr12:85742669..85744404,2	MCF-7	breast:
20	chr12:85470147..85471061-chr12:85788737..85789303,2	MCF-7	breast:
21	chr12:85693571..85695610-chr12:85696379..85699321,2	MCF-7	breast:
22	chr12:85673978..85677049-chr12:85677580..85680082,3	MCF-7	breast:
23	chr12:85673978..85677049-chr12:85677580..85680082,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALX1-2	chr12:85793271-85793388	XLOC_009820
2	lnc-ALX1-2	chr12:85763589-85763622	XLOC_009820
3	lnc-ALX1-2	chr12:85793175-85793388	NONHSAT029751
4	lnc-ALX1-1	chr12:85736250-85736690	ENSG00000258815
5	lnc-ALX1-1	chr12:85711838-85711893	ENSG00000258815
6	lnc-ALX1-1	chr12:85736216-85736970	NONHSAT029749
7	lnc-ALX1-2	chr12:85759621-85759721	NONHSAT029750
8	lnc-ALX1-1	chr12:85733174-85733276	NONHSAT029749
9	lnc-ALX1-1	chr12:85712733-85712757	NONHSAT029749
10	lnc-ALX1-2	chr12:85763588-85763622	NONHSAT029751
11	lnc-ALX1-2	chr12:85793271-85793388	NONHSAT029750
12	lnc-ALX1-1	chr12:85712736-85712757	ENSG00000258815

Variant related genes	Relation type
ENSG00000258815	TF binding region
ENSG00000258815	CpG island
ENSG00000199347	chromatin interactions
ID4	miRNA target sites
KCNK1	miRNA target sites

Extended variants
information (count: 2771 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:2771 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369386019	chr12:85674707-85674708	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575902604	chr12:85674708-85674709	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145512041	chr12:85674745-85674746	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs61055357	chr12:85674776-85674777	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541153683	chr12:85674836-85674837	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs559509678	chr12:85674837-85674838	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs147746524	chr12:85674841-85674842	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs141010192	chr12:85674846-85674847	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs138742385	chr12:85674860-85674861	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs184398335	chr12:85674868-85674869	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs114662219	chr12:85674892-85674893	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs543174700	chr12:85675086-85675087	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs551098281	chr12:85675125-85675126	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs368358947	chr12:85675184-85675185	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs114963213	chr12:85675226-85675227	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs563551339	chr12:85675242-85675243	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs372582944	chr12:85675259-85675260	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs188488188	chr12:85675269-85675270	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs181293458	chr12:85675270-85675271	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs368195661	chr12:85675285-85675286	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs530758365	chr12:85675291-85675292	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs532547957	chr12:85675296-85675297	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs547478116	chr12:85675334-85675335	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs566129909	chr12:85675374-85675375	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs549151539	chr12:85675404-85675405	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs567158949	chr12:85675428-85675429	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs536367769	chr12:85675445-85675446	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs185067343	chr12:85675488-85675489	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs370786073	chr12:85675509-85675510	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs534773439	chr12:85675565-85675566	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs375058496	chr12:85675647-85675648	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs546661945	chr12:85675681-85675682	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs191191612	chr12:85675691-85675692	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs77383940	chr12:85675721-85675722	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs367762736	chr12:85675729-85675730	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs180892731	chr12:85675731-85675732	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs540978254	chr12:85675905-85675906	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs552712781	chr12:85675932-85675933	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs574448360	chr12:85675941-85675942	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs541540426	chr12:85676019-85676020	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs115221316	chr12:85676023-85676024	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs144881365	chr12:85676056-85676057	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs80043749	chr12:85676078-85676079	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs79094146	chr12:85676079-85676080	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs557595580	chr12:85676149-85676150	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs187200853	chr12:85676156-85676157	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs149025659	chr12:85676166-85676167	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs532703780	chr12:85676198-85676199	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs143086179	chr12:85676264-85676265	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs11304530	chr12:85676294-85676295	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:331 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85672000-85675400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr12:85672600-85676200	Active TSS	Hela-S3	cervix
3	chr12:85672800-85675400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr12:85673000-85675000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:85673000-85675200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:85673000-85676200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:85673000-85679400	Bivalent/Poised TSS	Fetal Kidney	kidney
8	chr12:85673200-85674800	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:85673200-85674800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
10	chr12:85673200-85675000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:85673200-85675200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:85673200-85675800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:85673400-85674800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:85673400-85674800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
15	chr12:85673400-85674800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:85673400-85674800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
17	chr12:85673400-85675200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:85673400-85675200	Active TSS	H9 Cell Line	embryonic stem cell
19	chr12:85673400-85675800	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr12:85673600-85674800	Active TSS	HUVEC	blood vessel
21	chr12:85673600-85674800	Flanking Bivalent TSS/Enh	NH-A	brain
22	chr12:85673600-85675000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:85673600-85675200	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr12:85673600-85675400	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr12:85673600-85675400	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr12:85673600-85675600	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr12:85673800-85674800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:85673800-85674800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:85673800-85674800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:85673800-85674800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
31	chr12:85673800-85674800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
32	chr12:85673800-85674800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
33	chr12:85673800-85675000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
34	chr12:85673800-85675200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
35	chr12:85673800-85675400	Active TSS	H1 Cell Line	embryonic stem cell
36	chr12:85673800-85675400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:85673800-85675400	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr12:85673800-85675800	Bivalent/Poised TSS	NHDF-Ad	bronchial
39	chr12:85673800-85676000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:85674000-85674800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
41	chr12:85674000-85674800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:85674000-85674800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
43	chr12:85674000-85674800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
44	chr12:85674000-85674800	Flanking Bivalent TSS/Enh	Placenta	Placenta
45	chr12:85674000-85674800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
46	chr12:85674000-85674800	Flanking Bivalent TSS/Enh	NHEK	skin
47	chr12:85674000-85674800	Bivalent/Poised TSS	NHLF	lung
48	chr12:85674000-85675000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:85674000-85675000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
50	chr12:85674000-85675000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle

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