Variant report

Variant	nsv899578
Chromosome Location	chr12:123459005-123474529
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1838)
CpG islands
(count:2811)
Chromatin interactive
region (count:53)
LncRNA
region (count:15)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1838 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:123465167-123465328	K562	blood:	n/a	n/a
2	ARID3A	chr12:123458964-123459842	K562	blood:	n/a	n/a
3	ARID3A	chr12:123460562-123460690	K562	blood:	n/a	n/a
4	ARID3A	chr12:123458804-123459447	HepG2	liver:	n/a	n/a
5	ATF1	chr12:123458850-123459920	K562	blood:	n/a	n/a
6	ATF2	chr12:123464923-123465582	GM12878	blood:	n/a	n/a
7	ATF2	chr12:123458863-123459986	GM12878	blood:	n/a	n/a
8	ATF2	chr12:123458959-123459565	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr12:123458989-123459827	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr12:123465089-123465302	GM12878	blood:	n/a	n/a
11	ATF2	chr12:123458989-123459914	GM12878	blood:	n/a	n/a
12	ATF2	chr12:123465071-123465478	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF3	chr12:123464881-123465436	A549	lung:	n/a	chr12:123465343-123465352
14	ATF3	chr12:123464953-123465412	A549	lung:	n/a	chr12:123465343-123465352
15	ATF3	chr12:123458842-123459971	A549	lung:	n/a	chr12:123459623-123459631
16	ATF3	chr12:123459065-123459319	K562	blood:	n/a	n/a
17	ATF3	chr12:123458966-123459954	A549	lung:	n/a	chr12:123459623-123459631
18	ATF3	chr12:123459034-123459401	K562	blood:	n/a	n/a
19	BACH1	chr12:123459283-123459577	K562	blood:	n/a	n/a
20	BACH1	chr12:123460498-123460756	K562	blood:	n/a	n/a
21	BATF	chr12:123459124-123459414	GM12878	blood:	n/a	n/a
22	BATF	chr12:123465031-123465260	GM12878	blood:	n/a	n/a
23	BCL3	chr12:123458710-123460669	A549	lung:	n/a	chr12:123459218-123459227 chr12:123459302-123459311 chr12:123460436-123460444
24	BCL3	chr12:123463944-123465539	A549	lung:	n/a	n/a
25	BCL3	chr12:123464670-123465555	GM12878	blood:	n/a	n/a
26	BCL3	chr12:123458903-123460338	A549	lung:	n/a	chr12:123459218-123459227 chr12:123459302-123459311
27	BCL3	chr12:123464265-123465507	A549	lung:	n/a	n/a
28	BCLAF1	chr12:123458772-123460049	GM12878	blood:	n/a	chr12:123459218-123459227 chr12:123459302-123459311
29	BCLAF1	chr12:123464608-123465573	GM12878	blood:	n/a	n/a
30	BCLAF1	chr12:123458869-123459501	GM12878	blood:	n/a	chr12:123459218-123459227 chr12:123459302-123459311
31	BCLAF1	chr12:123464892-123465415	GM12878	blood:	n/a	n/a
32	BCLAF1	chr12:123458867-123459575	K562	blood:	n/a	chr12:123459218-123459227 chr12:123459302-123459311
33	BCLAF1	chr12:123458933-123460101	K562	blood:	n/a	chr12:123459218-123459227 chr12:123459302-123459311
34	BCLAF1	chr12:123464959-123465442	K562	blood:	n/a	n/a
35	BHLHE40	chr12:123458996-123460062	HepG2	liver:	n/a	n/a
36	BHLHE40	chr12:123468828-123469561	HepG2	liver:	n/a	n/a
37	BHLHE40	chr12:123464488-123465332	GM12878	blood:	n/a	n/a
38	BHLHE40	chr12:123464716-123464777	K562	blood:	n/a	n/a
39	BHLHE40	chr12:123465757-123465776	K562	blood:	n/a	n/a
40	BHLHE40	chr12:123459716-123459874	A549	lung:	n/a	n/a
41	BHLHE40	chr12:123458857-123460059	GM12878	blood:	n/a	n/a
42	BHLHE40	chr12:123464996-123465467	K562	blood:	n/a	n/a
43	BHLHE40	chr12:123458658-123460887	K562	blood:	n/a	n/a
44	BRCA1	chr12:123459558-123459946	H1-hESC	embryonic stem cell:	n/a	n/a
45	BRCA1	chr12:123458791-123459429	Hela-S3	cervix:	n/a	n/a
46	BRCA1	chr12:123465145-123465164	H1-hESC	embryonic stem cell:	n/a	n/a
47	BRCA1	chr12:123459632-123459904	Hela-S3	cervix:	n/a	n/a
48	BRCA1	chr12:123458968-123459239	HepG2	liver:	n/a	n/a
49	CBX3	chr12:123459072-123459433	K562	blood:	n/a	n/a
50	CBX3	chr12:123464956-123465508	K562	blood:	n/a	n/a

(count:2811 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123471521-123471571	PrEC	prostate:	n/a
2	chr12:123470623-123470673	MCF-7	breast:	n/a
3	chr12:123471054-123471104	GM19239	blood:	n/a
4	chr12:123472844-123472894	HCT-116	colon:	n/a
5	chr12:123472844-123472894	ProgFib	skin:	n/a
6	chr12:123471521-123471571	PrEC	prostate:	n/a
7	chr12:123470623-123470673	MCF-7	breast:	n/a
8	chr12:123471054-123471104	GM19239	blood:	n/a
9	chr12:123472844-123472894	HCT-116	colon:	n/a
10	chr12:123472844-123472894	ProgFib	skin:	n/a
11	chr12:123465515-123465565	HCT-116	colon:	n/a
12	chr12:123459803-123459853	HNPCEpiC	eye:	n/a
13	chr12:123461288-123461338	AG04450	lung:	fetal
14	chr12:123472150-123472200	HPAEpiC	pulmonary alveolar:	n/a
15	chr12:123469284-123469334	MCF10A-Er-Src	breast:	n/a
16	chr12:123469507-123469557	HRCEpiC	kidney:	n/a
17	chr12:123471521-123471571	HCF	heart:	n/a
18	chr12:123460159-123460209	PFSK-1	brain:	n/a
19	chr12:123464087-123464137	SK-N-SH	brain:	n/a
20	chr12:123460194-123460244	GM12878	blood:	n/a
21	chr12:123459163-123459213	AG04450	lung:	fetal
22	chr12:123464087-123464137	GM12878	blood:	n/a
23	chr12:123459832-123459882	BE2_C	brain:	n/a
24	chr12:123463762-123463812	HCF	heart:	n/a
25	chr12:123459749-123459799	PrEC	prostate:	n/a
26	chr12:123461288-123461338	PFSK-1	brain:	n/a
27	chr12:123471054-123471104	IMR90	lung:	fetal
28	chr12:123464511-123464561	HEEpiC	esophagus:	n/a
29	chr12:123468780-123468830	SK-N-SH_RA	brain:	n/a
30	chr12:123469669-123469719	PrEC	prostate:	n/a
31	chr12:123464758-123464808	GM19239	blood:	n/a
32	chr12:123459820-123459870	T-47D	breast:	n/a
33	chr12:123464821-123464871	NHDF-neo	bronchial:	n/a
34	chr12:123469507-123469557	MCF-7	breast:	n/a
35	chr12:123469507-123469557	GM12892	blood:	n/a
36	chr12:123464821-123464871	SK-N-SH_RA	brain:	n/a
37	chr12:123459832-123459882	U87	brain:	n/a
38	chr12:123460159-123460209	U87	brain:	n/a
39	chr12:123459818-123459868	HNPCEpiC	eye:	n/a
40	chr12:123471014-123471064	NT2-D1	testis:	n/a
41	chr12:123471014-123471064	PrEC	prostate:	n/a
42	chr12:123464758-123464808	HNPCEpiC	eye:	n/a
43	chr12:123471054-123471104	MCF10A-Er-Src	breast:	n/a
44	chr12:123460194-123460244	AG04449	skin:	fetal
45	chr12:123469284-123469334	PrEC	prostate:	n/a
46	chr12:123464758-123464808	CMK	blood:	n/a
47	chr12:123463006-123463056	GM12892	blood:	n/a
48	chr12:123464758-123464808	HCT-116	colon:	n/a
49	chr12:123459532-123459582	AG10803	skin:	n/a
50	chr12:123471521-123471571	HRE	kidney:	n/a

(count:53 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:123458067..123461017-chr12:123715728..123717607,2	MCF-7	breast:
2	chr12:123463187..123465154-chr12:123754619..123756805,2	K562	blood:
3	chr12:123463900..123466022-chr12:123633750..123636695,4	K562	blood:
4	chr12:123467906..123470215-chr12:123495247..123497244,2	K562	blood:
5	chr12:123459054..123462367-chr12:123715409..123720380,5	K562	blood:
6	chr12:123465881..123468570-chr12:123716034..123719414,3	K562	blood:
7	chr12:123444682..123447187-chr12:123459178..123461063,2	K562	blood:
8	chr12:123472287..123474627-chr12:123497209..123499619,2	K562	blood:
9	chr12:123470251..123473502-chr12:123478198..123482037,4	MCF-7	breast:
10	chr12:123463900..123467066-chr12:123633750..123636695,4	K562	blood:
11	chr12:123464855..123465488-chr4:76649632..76650346,2	Hela-S3	cervix:
12	chr12:123465121..123465775-chr20:45318252..45318799,2	NB4	blood:
13	chr12:123464088..123467689-chr12:123493302..123498202,6	MCF-7	breast:
14	chr12:123344672..123346333-chr12:123459122..123461016,2	MCF-7	breast:
15	chr12:123463210..123468211-chr12:123716151..123721062,7	MCF-7	breast:
16	chr12:123462407..123464564-chr12:123506369..123507907,2	MCF-7	breast:
17	chr12:123467419..123469042-chr12:123713866..123715628,2	K562	blood:
18	chr12:123468080..123470439-chr12:123573373..123575937,2	K562	blood:
19	chr12:123374002..123376738-chr12:123462505..123465359,2	MCF-7	breast:
20	chr12:123318837..123320791-chr12:123463752..123466824,3	MCF-7	breast:
21	chr12:123467378..123471463-chr12:123484194..123486166,3	MCF-7	breast:
22	chr12:123470053..123472975-chr12:123718822..123721771,2	K562	blood:
23	chr12:123467368..123470978-chr12:123525099..123527744,3	K562	blood:
24	chr12:123465466..123466394-chr16:18812294..18813236,3	Hela-S3	cervix:
25	chr12:123433587..123436454-chr12:123458977..123461529,2	K562	blood:
26	chr12:123465824..123467766-chr12:123717384..123719608,2	MCF-7	breast:
27	chr12:123474497..123476026-chr12:123715304..123717447,2	K562	blood:
28	chr12:123467975..123470307-chr12:123638971..123640597,2	MCF-7	breast:
29	chr12:123463143..123466030-chr12:123559790..123563075,3	MCF-7	breast:
30	chr12:120728398..120730404-chr12:123459731..123462257,2	MCF-7	breast:
31	chr12:123469032..123471248-chr12:123684974..123687831,2	K562	blood:
32	chr12:123468471..123472230-chr12:123634537..123637693,4	K562	blood:
33	chr12:122710527..122712234-chr12:123464292..123467088,2	K562	blood:
34	chr12:123469171..123471248-chr12:123684974..123686845,2	K562	blood:
35	chr12:123341647..123346113-chr12:123465146..123467618,4	K562	blood:
36	chr12:123343068..123345101-chr12:123464542..123466196,2	MCF-7	breast:
37	chr12:123349459..123352177-chr12:123465556..123468107,2	K562	blood:
38	chr12:57912351..57915137-chr12:123457151..123459849,2	MCF-7	breast:
39	chr12:123463846..123466792-chr12:123754381..123757110,2	MCF-7	breast:
40	chr12:123468264..123470538-chr12:123712723..123715235,2	MCF-7	breast:
41	chr12:123470879..123473811-chr12:123715857..123717754,3	K562	blood:
42	chr12:123458147..123462549-chr12:123715608..123720287,8	MCF-7	breast:
43	chr12:123469090..123471551-chr12:123505815..123507895,2	MCF-7	breast:
44	chr12:123473528..123475849-chr12:123479153..123481773,2	K562	blood:
45	chr12:123463020..123465729-chr8:144897399..144899453,2	MCF-7	breast:
46	chr12:123344929..123347895-chr12:123458197..123461633,3	MCF-7	breast:
47	chr12:123356737..123358240-chr12:123467000..123469929,2	MCF-7	breast:
48	chr12:123009242..123011639-chr12:123463173..123465225,2	K562	blood:
49	chr12:123345343..123346928-chr12:123463907..123466458,2	MCF-7	breast:
50	chr12:123353599..123356535-chr12:123459324..123461652,2	MCF-7	breast:

(count:15 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OGFOD2-1	chr12:123466504-123467085	NONHSAT031551
2	lnc-OGFOD2-1	chr12:123467167-123467453	NONHSAT031551
3	lnc-OGFOD2-1	chr12:123467167-123467460	NR_103512
4	lnc-OGFOD2-1	chr12:123467016-123467085	NR_103512
5	lnc-OGFOD2-1	chr12:123465676-123465846	NR_103512
6	lnc-OGFOD2-1	chr12:123465703-123465846	NONHSAT031556
7	lnc-OGFOD2-1	chr12:123466203-123466356	NR_103512
8	lnc-OGFOD2-1	chr12:123465676-123466426	NONHSAT031551
9	lnc-OGFOD2-1	chr12:123466578-123466621	NR_103512
10	lnc-OGFOD2-1	chr12:123465263-123465359	NONHSAT031554
11	lnc-OGFOD2-1	chr12:123467167-123467461	NONHSAT031554
12	lnc-OGFOD2-1	chr12:123466143-123466268	NONHSAT031556
13	lnc-OGFOD2-1	chr12:123464607-123465292	NR_103512
14	lnc-OGFOD2-1	chr12:123465676-123465813	NONHSAT031554
15	lnc-OGFOD2-1	chr12:123465229-123465292	NONHSAT031551

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	OGFOD2	hsa-miR-124-3p	chr12:123464489-123464511

Variant related genes	Relation type
OGFOD2	TF binding region
ARL6IP4	TF binding region
ENSG00000256028	TF binding region
ABCB9	TF binding region
OGFOD2	CpG island
ARL6IP4	CpG island
ENSG00000256028	CpG island
ABCB9	CpG island
ENSG00000051825	chromatin interactions
ENSG00000111011	chromatin interactions
ENSG00000175197	chromatin interactions
ENSG00000139722	chromatin interactions
ENSG00000130921	chromatin interactions
ENSG00000166987	chromatin interactions
ENSG00000271784	chromatin interactions
ENSG00000138757	chromatin interactions
ENSG00000111328	chromatin interactions
ENSG00000090975	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000256152	chromatin interactions
ENSG00000172315	chromatin interactions
ENSG00000180900	chromatin interactions
ENSG00000208028	chromatin interactions
ENSG00000260342	chromatin interactions
ENSG00000171421	chromatin interactions
ENSG00000138768	chromatin interactions
ENSG00000130787	chromatin interactions
ENSG00000150967	chromatin interactions
ENSG00000265526	chromatin interactions
ENSG00000184047	chromatin interactions
ENSG00000170540	chromatin interactions

Extended variants
information (count: 828 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:828 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5021544	chr12:123459005-123459006	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189698312	chr12:123459027-123459028	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs56250006	chr12:123459043-123459044	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs557507609	chr12:123459044-123459045	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs575782185	chr12:123459052-123459053	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs138546002	chr12:123459079-123459080	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs561534432	chr12:123459091-123459092	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs528795878	chr12:123459106-123459107	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs150302366	chr12:123459109-123459110	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs137964341	chr12:123459111-123459112	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs569006534	chr12:123459119-123459120	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs532618831	chr12:123459225-123459226	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs550832310	chr12:123459272-123459273	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs149479551	chr12:123459276-123459277	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs529088484	chr12:123459315-123459316	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs113315495	chr12:123459324-123459325	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs530593729	chr12:123459362-123459363	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs143967031	chr12:123459388-123459389	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs181350670	chr12:123459427-123459428	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs58025094	chr12:123459458-123459459	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs552548155	chr12:123459460-123459461	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs138666389	chr12:123459533-123459534	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs141789850	chr12:123459612-123459613	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs370743365	chr12:123459614-123459615	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs531825907	chr12:123459646-123459647	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs548502599	chr12:123459661-123459662	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs539896496	chr12:123459704-123459705	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs75980290	chr12:123459730-123459731	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs568612567	chr12:123459749-123459750	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs542804231	chr12:123459759-123459760	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs555207983	chr12:123459773-123459774	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
32	rs573566723	chr12:123459793-123459794	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
33	rs540971763	chr12:123459799-123459800	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
34	rs370006728	chr12:123459814-123459815	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
35	rs201608627	chr12:123459815-123459816	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs199884326	chr12:123459816-123459817	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs559826945	chr12:123459818-123459819	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs532370472	chr12:123459820-123459821	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs534239961	chr12:123459832-123459833	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
40	rs544619497	chr12:123459841-123459842	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs532536917	chr12:123459850-123459851	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs112253827	chr12:123459909-123459910	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs372989803	chr12:123459915-123459916	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs34634142	chr12:123459924-123459925	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs548758566	chr12:123459930-123459931	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs554431839	chr12:123459946-123459947	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs528348957	chr12:123459991-123459992	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs146259024	chr12:123460001-123460002	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs571533530	chr12:123460067-123460068	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs538227616	chr12:123460071-123460072	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
head and neck squamous cell carcinoma	24351288	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1594 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123458200-123460200	Active TSS	Hela-S3	cervix
2	chr12:123458400-123459200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr12:123458400-123459200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:123458400-123460200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:123458400-123460200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:123458400-123460200	Active TSS	Colonic Mucosa	Colon
7	chr12:123458400-123460200	Active TSS	Right Ventricle	heart
8	chr12:123458400-123460200	Active TSS	K562	blood
9	chr12:123458400-123460400	Active TSS	H1 Cell Line	embryonic stem cell
10	chr12:123458400-123460400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:123458400-123460400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:123458400-123460400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:123458400-123460400	Active TSS	Muscle Satellite Cultured Cells	--
14	chr12:123458400-123460400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:123458400-123460400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:123458400-123460400	Active TSS	Brain Anterior Caudate	brain
17	chr12:123458400-123460400	Active TSS	Pancreas	Pancrea
18	chr12:123458400-123460400	Active TSS	HMEC	breast
19	chr12:123458400-123460400	Active TSS	HSMM	muscle
20	chr12:123458400-123460400	Active TSS	HSMMtube	muscle
21	chr12:123458400-123460600	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr12:123458400-123460600	Active TSS	A549	lung
23	chr12:123458400-123460800	Active TSS	H9 Cell Line	embryonic stem cell
24	chr12:123458400-123460800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:123458400-123460800	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr12:123458400-123461200	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr12:123458600-123459200	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr12:123458600-123459200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr12:123458600-123459200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr12:123458600-123459200	Flanking Active TSS	Fetal Thymus	thymus
31	chr12:123458600-123459200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr12:123458600-123459200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr12:123458600-123459200	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr12:123458600-123460000	Active TSS	Fetal Brain Female	brain
35	chr12:123458600-123460200	Active TSS	Esophagus	oesophagus
36	chr12:123458600-123460400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:123458600-123460400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:123458600-123460400	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr12:123458600-123460400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:123458600-123460400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:123458600-123460400	Active TSS	Fetal Kidney	kidney
42	chr12:123458600-123460400	Active TSS	Fetal Lung	lung
43	chr12:123458600-123460400	Active TSS	Gastric	stomach
44	chr12:123458600-123460400	Active TSS	Left Ventricle	heart
45	chr12:123458600-123460400	Active TSS	Lung	lung
46	chr12:123458600-123460400	Active TSS	Right Atrium	heart
47	chr12:123458600-123460400	Active TSS	NHDF-Ad	bronchial
48	chr12:123458600-123460600	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr12:123458600-123460600	Active TSS	Aorta	Aorta
50	chr12:123458600-123460600	Active TSS	NHLF	lung

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