Variant report

Variant	nsv1053783
Chromosome Location	chr12:11203509-11495584
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1682)
CpG islands
(count:1893)
Chromatin interactive
region (count:91)
LncRNA
region (count:27)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1682 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:11352505-11352870	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:11224069-11224255	HepG2	liver:	n/a	n/a
3	ATF1	chr12:11311644-11311853	K562	blood:	n/a	n/a
4	ATF2	chr12:11238009-11238486	GM12878	blood:	n/a	n/a
5	ATF2	chr12:11323475-11324633	GM12878	blood:	n/a	n/a
6	ATF2	chr12:11237956-11238445	GM12878	blood:	n/a	n/a
7	ATF2	chr12:11323983-11324469	GM12878	blood:	n/a	n/a
8	ATF2	chr12:11323912-11324638	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr12:11323646-11324312	A549	lung:	n/a	chr12:11324224-11324233
10	BACH1	chr12:11305514-11305561	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr12:11324079-11324603	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr12:11288756-11288960	GM12878	blood:	n/a	n/a
13	BATF	chr12:11228218-11228560	GM12878	blood:	n/a	n/a
14	BATF	chr12:11238012-11238373	GM12878	blood:	n/a	n/a
15	BATF	chr12:11288732-11288969	GM12878	blood:	n/a	n/a
16	BATF	chr12:11238084-11238352	GM12878	blood:	n/a	n/a
17	BATF	chr12:11247482-11247799	GM12878	blood:	n/a	n/a
18	BATF	chr12:11335667-11335960	GM12878	blood:	n/a	chr12:11335847-11335858
19	BATF	chr12:11247547-11247827	GM12878	blood:	n/a	n/a
20	BATF	chr12:11324000-11324292	GM12878	blood:	n/a	n/a
21	BATF	chr12:11263799-11264109	GM12878	blood:	n/a	n/a
22	BATF	chr12:11263857-11264113	GM12878	blood:	n/a	n/a
23	BATF	chr12:11225254-11225547	GM12878	blood:	n/a	n/a
24	BATF	chr12:11332273-11332504	GM12878	blood:	n/a	n/a
25	BATF	chr12:11216721-11217010	GM12878	blood:	n/a	n/a
26	BCL11A	chr12:11288728-11288993	GM12878	blood:	n/a	n/a
27	BCL11A	chr12:11247500-11247829	GM12878	blood:	n/a	n/a
28	BCL11A	chr12:11238061-11238356	GM12878	blood:	n/a	chr12:11238263-11238272
29	BCL11A	chr12:11228248-11228517	GM12878	blood:	n/a	n/a
30	BCL11A	chr12:11263900-11264159	GM12878	blood:	n/a	n/a
31	BCL3	chr12:11323498-11324407	A549	lung:	n/a	chr12:11324225-11324234 chr12:11323768-11323777 chr12:11324228-11324237
32	BCL3	chr12:11323610-11324461	A549	lung:	n/a	chr12:11324225-11324234 chr12:11323768-11323777 chr12:11324228-11324237
33	BCL3	chr12:11335602-11335966	GM12878	blood:	n/a	n/a
34	BCLAF1	chr12:11323704-11324442	GM12878	blood:	n/a	chr12:11324225-11324234 chr12:11323768-11323777 chr12:11324228-11324237
35	BCLAF1	chr12:11323449-11324512	GM12878	blood:	n/a	chr12:11324225-11324234 chr12:11323768-11323777 chr12:11324228-11324237
36	BHLHE40	chr12:11323575-11324533	GM12878	blood:	n/a	chr12:11323958-11323974 chr12:11323812-11323828
37	BHLHE40	chr12:11228293-11228667	GM12878	blood:	n/a	n/a
38	BHLHE40	chr12:11323647-11324437	K562	blood:	n/a	chr12:11323958-11323974 chr12:11323812-11323828
39	BRCA1	chr12:11332938-11332949	GM12878	blood:	n/a	n/a
40	BRCA1	chr12:11323898-11324498	GM12878	blood:	n/a	chr12:11324259-11324268
41	BRCA1	chr12:11388624-11388659	GM12878	blood:	n/a	n/a
42	BRCA1	chr12:11324018-11324574	H1-hESC	embryonic stem cell:	n/a	chr12:11324259-11324268
43	BRCA1	chr12:11323432-11325089	Hela-S3	cervix:	n/a	chr12:11324259-11324268
44	BRCA1	chr12:11323769-11324449	HepG2	liver:	n/a	chr12:11324259-11324268
45	CBX3	chr12:11324034-11324454	K562	blood:	n/a	n/a
46	CBX3	chr12:11323559-11324543	HCT-116	colon:	n/a	n/a
47	CCNT2	chr12:11323661-11324400	K562	blood:	n/a	n/a
48	CEBPB	chr12:11335205-11335458	A549	lung:	n/a	chr12:11335342-11335353
49	CEBPB	chr12:11335197-11335487	Hela-S3	cervix:	n/a	chr12:11335342-11335353
50	CEBPB	chr12:11478711-11479007	HepG2	liver:	n/a	chr12:11478828-11478841 chr12:11478830-11478839 chr12:11478828-11478839 chr12:11478829-11478840

(count:1893 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:11323943-11323993	HUVEC	blood vessel:	n/a
2	chr12:11460710-11460760	MCF-7	breast:	n/a
3	chr12:11323943-11323993	HUVEC	blood vessel:	n/a
4	chr12:11460710-11460760	MCF-7	breast:	n/a
5	chr12:11323943-11323993	NHBE	bronchial:	n/a
6	chr12:11215083-11215133	PFSK-1	brain:	n/a
7	chr12:11324180-11324230	HCM	heart:	n/a
8	chr12:11323616-11323666	NT2-D1	testis:	n/a
9	chr12:11322611-11322661	SK-N-SH	brain:	n/a
10	chr12:11324264-11324314	GM12892	blood:	n/a
11	chr12:11422920-11422970	SK-N-SH_RA	brain:	n/a
12	chr12:11464607-11464657	BJ	skin:	n/a
13	chr12:11324535-11324585	BJ	skin:	n/a
14	chr12:11464607-11464657	HRCEpiC	kidney:	n/a
15	chr12:11422897-11422947	NH-A	brain:	n/a
16	chr12:11287271-11287321	AG04449	skin:	fetal
17	chr12:11422897-11422947	Jurkat	blood:	n/a
18	chr12:11324180-11324230	BJ	skin:	n/a
19	chr12:11463379-11463429	SK-N-SH	brain:	n/a
20	chr12:11244939-11244989	HNPCEpiC	eye:	n/a
21	chr12:11322611-11322661	PANC-1	pancreas:	n/a
22	chr12:11216351-11216401	HCPEpiC	choroid plexus:	n/a
23	chr12:11323616-11323666	Caco-2	colon:	n/a
24	chr12:11460710-11460760	A549	lung:	n/a
25	chr12:11422897-11422947	AG04449	skin:	fetal
26	chr12:11306136-11306186	Jurkat	blood:	n/a
27	chr12:11322611-11322661	GM19239	blood:	n/a
28	chr12:11287815-11287865	PFSK-1	brain:	n/a
29	chr12:11461798-11461848	NHBE	bronchial:	n/a
30	chr12:11322611-11322661	AG09309	skin:	n/a
31	chr12:11324778-11324828	ECC-1	luminal epithelium:	n/a
32	chr12:11460710-11460760	T-47D	breast:	n/a
33	chr12:11244899-11244949	SK-N-SH_RA	brain:	n/a
34	chr12:11244899-11244949	HCF	heart:	n/a
35	chr12:11422920-11422970	HCPEpiC	choroid plexus:	n/a
36	chr12:11461798-11461848	BJ	skin:	n/a
37	chr12:11323943-11323993	NB4	blood:	n/a
38	chr12:11287344-11287394	HRCEpiC	kidney:	n/a
39	chr12:11461798-11461848	H1-hESC	embryonic stem cell:	embryo
40	chr12:11420895-11420945	IMR90	lung:	fetal
41	chr12:11287344-11287394	AG10803	skin:	n/a
42	chr12:11460710-11460760	HAEpiC	amniotic membrane:	n/a
43	chr12:11422897-11422947	AoSMC	blood vessel:	n/a
44	chr12:11322611-11322661	BE2_C	brain:	n/a
45	chr12:11463379-11463429	BJ	skin:	n/a
46	chr12:11323616-11323666	HMEC	breast:	n/a
47	chr12:11324264-11324314	CMK	blood:	n/a
48	chr12:11423020-11423070	SK-N-MC	brain:	n/a
49	chr12:11287271-11287321	NB4	blood:	n/a
50	chr12:11422920-11422970	GM19239	blood:	n/a

(count:91 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:11305963..11307778-chr12:11320595..11323061,2	MCF-7	breast:
2	chr12:11304231..11306994-chr12:11309060..11311712,2	K562	blood:
3	chr12:11380256..11382594-chr12:11395942..11397666,2	K562	blood:
4	chr12:10923706..10924220-chr12:11352723..11353239,2	K562	blood:
5	chr12:11322432..11324431-chr12:72056353..72059109,2	MCF-7	breast:
6	chr12:11321748..11327565-chr12:11327784..11333912,14	MCF-7	breast:
7	chr12:11325711..11328028-chr12:11332674..11335077,2	K562	blood:
8	chr12:11339360..11340873-chr12:11341423..11344007,2	K562	blood:
9	chr12:11307789..11310150-chr12:11322132..11323842,2	MCF-7	breast:
10	chr12:11253040..11255708-chr12:11259363..11262255,2	K562	blood:
11	chr12:11210669..11211248-chr5:109800405..109801099,2	MCF-7	breast:
12	chr12:11312566..11314188-chr12:11314378..11316255,2	MCF-7	breast:
13	chr10:135186788..135187434-chr12:11323693..11324221,2	Hela-S3	cervix:
14	chr12:11315752..11317639-chr12:11323293..11325244,2	MCF-7	breast:
15	chr12:11382288..11384076-chr12:11390295..11392363,2	K562	blood:
16	chr12:11380955..11381831-chr12:11636473..11637250,2	MCF-7	breast:
17	chr12:11271454..11274346-chr12:11279643..11282306,2	MCF-7	breast:
18	chr12:10923485..10924800-chr12:11352236..11353220,4	MCF-7	breast:
19	chr12:11019655..11020615-chr12:11352279..11353067,3	MCF-7	breast:
20	chr12:10961808..10964056-chr12:11322515..11324346,2	MCF-7	breast:
21	chr12:11323641..11324161-chr3:73160071..73160628,2	Hela-S3	cervix:
22	chr12:11322782..11326787-chr12:11332516..11335699,5	K562	blood:
23	chr12:11326790..11329345-chr12:11330898..11332485,3	K562	blood:
24	chr12:11329898..11330417-chr12:11355501..11356398,2	MCF-7	breast:
25	chr12:11331591..11333492-chr12:11338114..11339808,2	K562	blood:
26	chr12:11352192..11353981-chr12:11359550..11361996,2	MCF-7	breast:
27	chr12:11328652..11331846-chr12:11337152..11339281,3	MCF-7	breast:
28	chr12:11386551..11388621-chr12:11390275..11392718,2	MCF-7	breast:
29	chr12:11321748..11327565-chr12:11327784..11333912,14	MCF-7	breast:
30	chr12:11494392..11497234-chr12:11500928..11503308,2	K562	blood:
31	chr12:11237724..11239418-chr12:11252570..11254241,2	MCF-7	breast:
32	chr12:11355200..11357973-chr12:11364676..11367574,2	K562	blood:
33	chr12:11305963..11307778-chr12:11320595..11323061,2	MCF-7	breast:
34	chr12:11329898..11330417-chr12:11355501..11356398,2	MCF-7	breast:
35	chr12:11312845..11315000-chr12:11322823..11325208,2	MCF-7	breast:
36	chr12:11322782..11326787-chr12:11332516..11335699,5	K562	blood:
37	chr12:11328030..11329643-chr12:11332675..11334245,2	K562	blood:
38	chr12:11328230..11331736-chr12:11334279..11336008,3	MCF-7	breast:
39	chr12:11237724..11239418-chr12:11252570..11254241,2	MCF-7	breast:
40	chr12:11321289..11323850-chr12:11635988..11637922,2	MCF-7	breast:
41	chr12:11019756..11020639-chr12:11381127..11381814,2	MCF-7	breast:
42	chr12:11330504..11332010-chr12:11332108..11333745,2	K562	blood:
43	chr12:11305022..11306977-chr12:11320566..11323484,2	MCF-7	breast:
44	chr12:11253040..11255708-chr12:11259363..11262255,2	K562	blood:
45	chr12:11091072..11093170-chr12:11322389..11325259,3	MCF-7	breast:
46	chr12:11393394..11396191-chr12:11397306..11399582,2	K562	blood:
47	chr12:11379156..11381655-chr12:11386557..11389546,2	MCF-7	breast:
48	chr12:11352192..11353981-chr12:11359550..11361996,2	MCF-7	breast:
49	chr12:11380961..11381600-chr12:11584509..11585267,2	MCF-7	breast:
50	chr12:11381972..11382582-chr12:11639477..11639992,2	MCF-7	breast:

(count:27 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TAS2R30-1	chr12:11311384-11312293	NONHSAT026921
2	lnc-PRB4-2	chr12:11418890-11418962	NONHSAT026934
3	lnc-PRB4-2	chr12:11421567-11421602	NONHSAT026934
4	lnc-TAS2R43-1	chr12:11229368-11231770	NONHSAT026918
5	lnc-TAS2R42-1	chr12:11318689-11318986	ENSG00000256712.1
6	lnc-PRB4-1	chr12:11463270-11463369	NONHSAT026935
7	lnc-TAS2R42-3	chr12:11348987-11349908	NONHSAT026930
8	lnc-PRB4-2	chr12:11420109-11420359	NONHSAT026934
9	lnc-TAS2R42-1	chr12:11323866-11323952	ENSG00000256712.1
10	lnc-PRH1-1	chr12:11324021-11324224	NR_037918
11	lnc-PRB4-2	chr12:11422540-11422641	NONHSAT026934
12	lnc-TAS2R42-2	chr12:11332272-11333061	NONHSAT026928
13	lnc-TAS2R30-1	chr12:11312033-11312410	NONHSAT026922
14	lnc-PRH2-5	chr12:11338660-11339511	NONHSAT026929
15	lnc-PRB4-1	chr12:11461584-11461816	NONHSAT026935
16	lnc-PRH1-1	chr12:11324021-11324172	NONHSAT026912
17	lnc-PRH1-1	chr12:11273435-11273779	NONHSAT026920
18	lnc-PRH2-2	chr12:11404233-11404303	ENSG00000256373
19	lnc-PRH1-1	chr12:11324021-11324059	NONHSAT026920
20	lnc-TAS2R43-1	chr12:11229915-11230841	NONHSAT140056
21	lnc-PRH1-1	chr12:11324021-11324207	NONHSAT026916
22	lnc-PRH2-2	chr12:11365126-11365560	ENSG00000256373
23	lnc-PRH1-1	chr12:11324021-11324143	NONHSAT026907
24	lnc-PRB4-1	chr12:11461162-11461375	NONHSAT026935
25	lnc-PRB4-1	chr12:11462305-11462339	NONHSAT026935
26	lnc-PRH1-1	chr12:11273609-11273779	NONHSAT026916
27	lnc-PRB4-2	chr12:11420927-11421082	NONHSAT026934

No data

Variant related genes	Relation type
PRB4	TF binding region
TAS2R14	TF binding region
TAS2R46	TF binding region
ENSG00000256712	TF binding region
TAS2R30	TF binding region
ENSG00000256537	TF binding region
ENSG00000256373	TF binding region
TAS2R42	TF binding region
ENSG00000256400	TF binding region
ENSG00000256657	TF binding region
TAS2R43	TF binding region
RNU6-676P	TF binding region
TAS2R18	TF binding region
TAS2R64P	TF binding region
PRR4	TF binding region
TAS2R63P	TF binding region
PRB3	TF binding region
TAS2R67P	TF binding region
PRB4	CpG island
TAS2R14	CpG island
TAS2R46	CpG island
ENSG00000256712	CpG island
TAS2R30	CpG island
ENSG00000256537	CpG island
ENSG00000256373	CpG island
TAS2R42	CpG island
ENSG00000256400	CpG island
ENSG00000256657	CpG island
TAS2R43	CpG island
RNU6-676P	CpG island
TAS2R18	CpG island
TAS2R64P	CpG island
PRR4	CpG island
TAS2R63P	CpG island
PRB3	CpG island
TAS2R67P	CpG island
ENSG00000255790	chromatin interactions
ENSG00000256629	chromatin interactions
ENSG00000133858	chromatin interactions
ENSG00000212127	chromatin interactions
ENSG00000186136	chromatin interactions
ENSG00000253095	chromatin interactions
ENSG00000256888	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000256373	chromatin interactions
ENSG00000256712	chromatin interactions
ENSG00000111196	chromatin interactions
ENSG00000127884	chromatin interactions
ENSG00000173451	chromatin interactions
ENSG00000176890	chromatin interactions
ENSG00000121381	chromatin interactions
ENSG00000111215	chromatin interactions
ENSG00000139112	chromatin interactions
ENSG00000034510	chromatin interactions
ENSG00000256537	chromatin interactions
ENSG00000255958	chromatin interactions
FBXW7	miRNA target sites
ARID5B	miRNA target sites

Extended variants
information (count: 11328 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:11328 , 50 per page) page: 1 2 3 4 5 6 7 ... 227

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560045764	chr12:11203514-11203515	ZNF genes & repeats Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs544735158	chr12:11203518-11203519	ZNF genes & repeats Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs376290719	chr12:11203548-11203549	ZNF genes & repeats Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs532030348	chr12:11203575-11203576	ZNF genes & repeats Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs564601795	chr12:11203585-11203586	ZNF genes & repeats Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs200935885	chr12:11203642-11203643	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2597991	chr12:11203643-11203644	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs74751587	chr12:11203663-11203664	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117968241	chr12:11203679-11203680	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200695858	chr12:11203697-11203698	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7966304	chr12:11203701-11203702	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs144149767	chr12:11203707-11203708	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545612310	chr12:11203714-11203715	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549390402	chr12:11203729-11203730	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372426553	chr12:11203739-11203740	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538022115	chr12:11203742-11203743	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200789100	chr12:11203759-11203760	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73053003	chr12:11203768-11203769	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558307094	chr12:11203788-11203789	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200867045	chr12:11203793-11203794	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372352246	chr12:11203812-11203813	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571723796	chr12:11203818-11203819	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77091205	chr12:11203831-11203832	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534195470	chr12:11203832-11203833	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565464374	chr12:11203845-11203846	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554252316	chr12:11203866-11203867	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147773423	chr12:11203896-11203897	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542934267	chr12:11203901-11203902	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7956911	chr12:11203933-11203934	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs548423514	chr12:11203990-11203991	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61912888	chr12:11203991-11203992	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs200753041	chr12:11204001-11204002	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564640981	chr12:11204004-11204005	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527940546	chr12:11204071-11204072	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189278937	chr12:11204090-11204091	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540715240	chr12:11204127-11204128	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115108004	chr12:11204157-11204158	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141166591	chr12:11204159-11204160	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181641680	chr12:11204212-11204213	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs369760400	chr12:11204215-11204216	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs570797727	chr12:11204220-11204221	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs550177475	chr12:11204223-11204224	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs66509257	chr12:11204235-11204236	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs551966309	chr12:11204237-11204238	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs139877643	chr12:11204252-11204253	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs556605212	chr12:11204261-11204262	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs571861757	chr12:11204277-11204278	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs73260744	chr12:11204283-11204284	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs186868182	chr12:11204288-11204289	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs117431655	chr12:11204326-11204327	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	20877625	CNVD
Ovarian cancer	21781307	CNVD
Acute myeloid leukemia	17237825	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
Acute myeloid leukemia	20729466	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Osteosarcoma	21215367	CNVD
Mental retardation	20877625	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	19812545	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	20531469	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2600 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11166200-11210000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:11168800-11205800	Weak transcription	Osteobl	bone
3	chr12:11169400-11219400	Weak transcription	HUVEC	blood vessel
4	chr12:11171000-11225600	Weak transcription	HSMMtube	muscle
5	chr12:11175000-11204600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:11176400-11211200	Weak transcription	Aorta	Aorta
7	chr12:11179000-11223800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:11179400-11222000	Weak transcription	Fetal Kidney	kidney
9	chr12:11181000-11217400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:11181000-11220000	Weak transcription	Gastric	stomach
11	chr12:11181000-11224800	Weak transcription	Fetal Stomach	stomach
12	chr12:11181600-11209400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr12:11184200-11213000	Weak transcription	Thymus	Thymus
14	chr12:11192600-11203800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr12:11193200-11224200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:11194600-11210000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr12:11196600-11211400	Weak transcription	Fetal Heart	heart
18	chr12:11196600-11215000	Weak transcription	NHLF	lung
19	chr12:11197400-11203600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr12:11198000-11230200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr12:11198200-11205000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:11199600-11203600	Weak transcription	Liver	Liver
23	chr12:11199600-11214200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:11199800-11203600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr12:11199800-11206200	Weak transcription	Fetal Intestine Large	intestine
26	chr12:11199800-11222800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:11201000-11203600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr12:11201000-11205400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:11201000-11206800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:11201400-11203800	Weak transcription	K562	blood
31	chr12:11201400-11210600	Weak transcription	Left Ventricle	heart
32	chr12:11201600-11227800	Weak transcription	HSMM	muscle
33	chr12:11201800-11205400	ZNF genes & repeats	Dnd41	blood
34	chr12:11202000-11204400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:11202200-11203800	ZNF genes & repeats	HepG2	liver
36	chr12:11202400-11203800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
37	chr12:11202400-11203800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
38	chr12:11202400-11204400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
39	chr12:11202600-11203600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
40	chr12:11202600-11203600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
41	chr12:11202600-11203600	ZNF genes & repeats	Fetal Thymus	thymus
42	chr12:11202600-11203800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
43	chr12:11202600-11203800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
44	chr12:11202600-11203800	ZNF genes & repeats	Fetal Brain Female	brain
45	chr12:11202600-11204400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:11202600-11204800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
47	chr12:11202800-11203600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr12:11202800-11203600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
49	chr12:11202800-11203800	ZNF genes & repeats	Fetal Muscle Leg	muscle
50	chr12:11202800-11203800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum

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