Variant report

Variant	esv1807067
Chromosome Location	chr12:11214215-11568895
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1881)
CpG islands
(count:2264)
Chromatin interactive
region (count:91)
LncRNA
region (count:31)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1881 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

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	ATF1	chr12:11501400-11501725	K562	blood:	n/a	n/a
5	ATF2	chr12:11323475-11324633	GM12878	blood:	n/a	n/a
6	ATF2	chr12:11238009-11238486	GM12878	blood:	n/a	n/a
7	ATF2	chr12:11323912-11324638	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr12:11237956-11238445	GM12878	blood:	n/a	n/a
9	ATF2	chr12:11323983-11324469	GM12878	blood:	n/a	n/a
10	ATF3	chr12:11323646-11324312	A549	lung:	n/a	chr12:11324224-11324233
11	BACH1	chr12:11305514-11305561	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr12:11324079-11324603	H1-hESC	embryonic stem cell:	n/a	n/a
13	BATF	chr12:11228218-11228560	GM12878	blood:	n/a	n/a
14	BATF	chr12:11335667-11335960	GM12878	blood:	n/a	chr12:11335847-11335858
15	BATF	chr12:11238084-11238352	GM12878	blood:	n/a	n/a
16	BATF	chr12:11247482-11247799	GM12878	blood:	n/a	n/a
17	BATF	chr12:11247547-11247827	GM12878	blood:	n/a	n/a
18	BATF	chr12:11288756-11288960	GM12878	blood:	n/a	n/a
19	BATF	chr12:11225254-11225547	GM12878	blood:	n/a	n/a
20	BATF	chr12:11324000-11324292	GM12878	blood:	n/a	n/a
21	BATF	chr12:11332273-11332504	GM12878	blood:	n/a	n/a
22	BATF	chr12:11288732-11288969	GM12878	blood:	n/a	n/a
23	BATF	chr12:11216721-11217010	GM12878	blood:	n/a	n/a
24	BATF	chr12:11263857-11264113	GM12878	blood:	n/a	n/a
25	BATF	chr12:11263799-11264109	GM12878	blood:	n/a	n/a
26	BATF	chr12:11238012-11238373	GM12878	blood:	n/a	n/a
27	BCL11A	chr12:11238061-11238356	GM12878	blood:	n/a	chr12:11238263-11238272
28	BCL11A	chr12:11288728-11288993	GM12878	blood:	n/a	n/a
29	BCL11A	chr12:11228248-11228517	GM12878	blood:	n/a	n/a
30	BCL11A	chr12:11263900-11264159	GM12878	blood:	n/a	n/a
31	BCL11A	chr12:11247500-11247829	GM12878	blood:	n/a	n/a
32	BCL3	chr12:11335602-11335966	GM12878	blood:	n/a	n/a
33	BCL3	chr12:11323610-11324461	A549	lung:	n/a	chr12:11324225-11324234 chr12:11323768-11323777 chr12:11324228-11324237
34	BCL3	chr12:11501361-11501642	GM12878	blood:	n/a	n/a
35	BCL3	chr12:11323498-11324407	A549	lung:	n/a	chr12:11324225-11324234 chr12:11323768-11323777 chr12:11324228-11324237
36	BCL3	chr12:11501365-11501771	GM12878	blood:	n/a	n/a
37	BCLAF1	chr12:11323704-11324442	GM12878	blood:	n/a	chr12:11324225-11324234 chr12:11323768-11323777 chr12:11324228-11324237
38	BCLAF1	chr12:11323449-11324512	GM12878	blood:	n/a	chr12:11324225-11324234 chr12:11323768-11323777 chr12:11324228-11324237
39	BHLHE40	chr12:11323647-11324437	K562	blood:	n/a	chr12:11323958-11323974 chr12:11323812-11323828
40	BHLHE40	chr12:11323575-11324533	GM12878	blood:	n/a	chr12:11323958-11323974 chr12:11323812-11323828
41	BHLHE40	chr12:11228293-11228667	GM12878	blood:	n/a	n/a
42	BRCA1	chr12:11332938-11332949	GM12878	blood:	n/a	n/a
43	BRCA1	chr12:11323898-11324498	GM12878	blood:	n/a	chr12:11324259-11324268
44	BRCA1	chr12:11323432-11325089	Hela-S3	cervix:	n/a	chr12:11324259-11324268
45	BRCA1	chr12:11323769-11324449	HepG2	liver:	n/a	chr12:11324259-11324268
46	BRCA1	chr12:11388624-11388659	GM12878	blood:	n/a	n/a
47	BRCA1	chr12:11324018-11324574	H1-hESC	embryonic stem cell:	n/a	chr12:11324259-11324268
48	CBX3	chr12:11323559-11324543	HCT-116	colon:	n/a	n/a
49	CBX3	chr12:11324034-11324454	K562	blood:	n/a	n/a
50	CCNT2	chr12:11323661-11324400	K562	blood:	n/a	n/a

(count:2264 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:11215083-11215133	SK-N-MC	brain:	n/a
2	chr12:11548867-11548917	PANC-1	pancreas:	n/a
3	chr12:11324278-11324328	Caco-2	colon:	n/a
4	chr12:11324264-11324314	H1-hESC	embryonic stem cell:	embryo
5	chr12:11422920-11422970	IMR90	lung:	fetal
6	chr12:11287271-11287321	AG10803	skin:	n/a
7	chr12:11420895-11420945	AG04449	skin:	fetal
8	chr12:11215083-11215133	SK-N-MC	brain:	n/a
9	chr12:11548867-11548917	PANC-1	pancreas:	n/a
10	chr12:11324278-11324328	Caco-2	colon:	n/a
11	chr12:11324264-11324314	H1-hESC	embryonic stem cell:	embryo
12	chr12:11422920-11422970	IMR90	lung:	fetal
13	chr12:11287271-11287321	AG10803	skin:	n/a
14	chr12:11420895-11420945	AG04449	skin:	fetal
15	chr12:11287271-11287321	GM12892	blood:	n/a
16	chr12:11464607-11464657	AG09309	skin:	n/a
17	chr12:11326931-11326981	MCF-7	breast:	n/a
18	chr12:11324264-11324314	Jurkat	blood:	n/a
19	chr12:11422920-11422970	K562	blood:	n/a
20	chr12:11463844-11463894	AG09309	skin:	n/a
21	chr12:11216351-11216401	Caco-2	colon:	n/a
22	chr12:11461798-11461848	AG10803	skin:	n/a
23	chr12:11215083-11215133	U87	brain:	n/a
24	chr12:11422897-11422947	U87	brain:	n/a
25	chr12:11216351-11216401	HUVEC	blood vessel:	n/a
26	chr12:11422897-11422947	SK-N-SH_RA	brain:	n/a
27	chr12:11215083-11215133	HMEC	breast:	n/a
28	chr12:11549555-11549605	Jurkat	blood:	n/a
29	chr12:11322611-11322661	NB4	blood:	n/a
30	chr12:11422920-11422970	HCPEpiC	choroid plexus:	n/a
31	chr12:11287271-11287321	HepG2	liver:	n/a
32	chr12:11326931-11326981	LNCaP	prostate:	n/a
33	chr12:11324180-11324230	GM19239	blood:	n/a
34	chr12:11549192-11549242	ovcar-3	ovarian:	n/a
35	chr12:11324180-11324230	ECC-1	luminal epithelium:	n/a
36	chr12:11463844-11463894	Caco-2	colon:	n/a
37	chr12:11287815-11287865	RPTEC	kidney:	n/a
38	chr12:11463937-11463987	AG04450	lung:	fetal
39	chr12:11548019-11548069	GM19239	blood:	n/a
40	chr12:11324278-11324328	HepG2	liver:	n/a
41	chr12:11324264-11324314	SKMC	muscle:	n/a
42	chr12:11464607-11464657	Hepatocyte	liver:	n/a
43	chr12:11464607-11464657	GM12892	blood:	n/a
44	chr12:11322611-11322661	ovcar-3	ovarian:	n/a
45	chr12:11324778-11324828	GM12891	blood:	n/a
46	chr12:11548867-11548917	LNCaP	prostate:	n/a
47	chr12:11244899-11244949	CMK	blood:	n/a
48	chr12:11508049-11508099	HCPEpiC	choroid plexus:	n/a
49	chr12:11287344-11287394	HEK293	kidney:	embryo
50	chr12:11420895-11420945	HEEpiC	esophagus:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr12:11321748..11327565-chr12:11327784..11333912,14	MCF-7	breast:
2	chr12:11494392..11497234-chr12:11500928..11503308,2	K562	blood:
3	chr12:11305022..11306977-chr12:11320566..11323484,2	MCF-7	breast:
4	chr12:11322782..11326787-chr12:11332516..11335699,5	K562	blood:
5	chr12:10902631..10903193-chr12:11380478..11381401,2	MCF-7	breast:
6	chr12:11304563..11306600-chr12:11308675..11311422,2	MCF-7	breast:
7	chr12:11323499..11324407-chr2:85132715..85133333,2	Hela-S3	cervix:
8	chr12:11290678..11292304-chr12:11322742..11325522,2	MCF-7	breast:
9	chr12:11380256..11382594-chr12:11395942..11397666,2	K562	blood:
10	chr12:11271454..11274346-chr12:11279643..11282306,2	MCF-7	breast:
11	chr12:11393260..11395260-chr12:11405152..11406755,2	MCF-7	breast:
12	chr12:11328652..11331846-chr12:11337152..11339281,3	MCF-7	breast:
13	chr12:11237724..11239418-chr12:11252570..11254241,2	MCF-7	breast:
14	chr12:11386551..11388621-chr12:11390275..11392718,2	MCF-7	breast:
15	chr12:11019756..11020639-chr12:11381127..11381814,2	MCF-7	breast:
16	chr12:11329898..11330417-chr12:11355501..11356398,2	MCF-7	breast:
17	chr12:11352192..11353981-chr12:11359550..11361996,2	MCF-7	breast:
18	chr12:11307789..11310150-chr12:11322132..11323842,2	MCF-7	breast:
19	chr12:11302189..11304127-chr12:11307779..11309438,2	K562	blood:
20	chr12:11380961..11381600-chr12:11584509..11585267,2	MCF-7	breast:
21	chr12:11315752..11317639-chr12:11323293..11325244,2	MCF-7	breast:
22	chr12:11319524..11322672-chr12:11327790..11329876,3	K562	blood:
23	chr12:11329898..11330417-chr12:11355501..11356398,2	MCF-7	breast:
24	chr12:11382288..11384076-chr12:11390295..11392363,2	K562	blood:
25	chr12:11382288..11384076-chr12:11390295..11392363,2	K562	blood:
26	chr12:11253040..11255708-chr12:11259363..11262255,2	K562	blood:
27	chr12:11380955..11381831-chr12:11636473..11637250,2	MCF-7	breast:
28	chr12:11339360..11340873-chr12:11341423..11344007,2	K562	blood:
29	chr12:11380256..11382594-chr12:11395942..11397666,2	K562	blood:
30	chr12:11378692..11379976-chr12:11639209..11640084,4	MCF-7	breast:
31	chr12:11321289..11323850-chr12:11635988..11637922,2	MCF-7	breast:
32	chr12:11298849..11300758-chr12:11322429..11324461,2	K562	blood:
33	chr12:11355200..11357973-chr12:11364676..11367574,2	K562	blood:
34	chr12:11393394..11396191-chr12:11397306..11399582,2	K562	blood:
35	chr12:11381972..11382582-chr12:11639477..11639992,2	MCF-7	breast:
36	chr12:11380630..11381925-chr12:11638833..11640222,16	MCF-7	breast:
37	chr12:11323641..11324161-chr3:73160071..73160628,2	Hela-S3	cervix:
38	chr12:11331591..11333492-chr12:11338114..11339808,2	K562	blood:
39	chr12:11352192..11353981-chr12:11359550..11361996,2	MCF-7	breast:
40	chr12:11328230..11331736-chr12:11334279..11336008,3	MCF-7	breast:
41	chr12:11379156..11381655-chr12:11386557..11389546,2	MCF-7	breast:
42	chr12:11312566..11314188-chr12:11314378..11316255,2	MCF-7	breast:
43	chr12:11307789..11310150-chr12:11322132..11323842,2	MCF-7	breast:
44	chr12:11331591..11333492-chr12:11338114..11339808,2	K562	blood:
45	chr12:11319524..11322672-chr12:11327790..11329876,3	K562	blood:
46	chr12:11325711..11328028-chr12:11332674..11335077,2	K562	blood:
47	chr12:11380800..11382351-chr12:11639202..11640262,7	K562	blood:
48	chr12:11304231..11306994-chr12:11309060..11311712,2	K562	blood:
49	chr12:11305022..11306977-chr12:11320566..11323484,2	MCF-7	breast:
50	chr12:11326790..11329345-chr12:11330898..11332446,2	K562	blood:

(count:31 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRB4-1	chr12:11462305-11462339	NONHSAT026935
2	lnc-PRB1-1	chr12:11552315-11552411	ENSG00000255790.1
3	lnc-TAS2R42-1	chr12:11323866-11323952	ENSG00000256712.1
4	lnc-TAS2R43-1	chr12:11229915-11230841	NONHSAT140056
5	lnc-PRB1-1	chr12:11554419-11554457	ENSG00000255790.1
6	lnc-PRB4-2	chr12:11421567-11421602	NONHSAT026934
7	lnc-PRH1-1	chr12:11324021-11324059	NONHSAT026920
8	lnc-TAS2R42-1	chr12:11318689-11318986	ENSG00000256712.1
9	lnc-PRH1-1	chr12:11324021-11324143	NONHSAT026907
10	lnc-TAS2R30-1	chr12:11311384-11312293	NONHSAT026921
11	lnc-PRH2-2	chr12:11365126-11365560	ENSG00000256373
12	lnc-TAS2R42-2	chr12:11332272-11333061	NONHSAT026928
13	lnc-PRH1-1	chr12:11273609-11273779	NONHSAT026916
14	lnc-TAS2R30-1	chr12:11312033-11312410	NONHSAT026922
15	lnc-PRB1-1	chr12:11559632-11559826	ENSG00000255790.1
16	lnc-PRH2-2	chr12:11404233-11404303	ENSG00000256373
17	lnc-PRB4-2	chr12:11422540-11422641	NONHSAT026934
18	lnc-TAS2R42-3	chr12:11348987-11349908	NONHSAT026930
19	lnc-PRH1-1	chr12:11324021-11324207	NONHSAT026916
20	lnc-PRB4-1	chr12:11461584-11461816	NONHSAT026935
21	lnc-PRH1-1	chr12:11324021-11324224	NR_037918
22	lnc-PRB4-2	chr12:11418890-11418962	NONHSAT026934
23	lnc-PRB4-1	chr12:11461162-11461375	NONHSAT026935
24	lnc-PRH1-1	chr12:11324021-11324172	NONHSAT026912
25	lnc-PRH1-1	chr12:11273435-11273779	NONHSAT026920
26	lnc-PRH2-5	chr12:11338660-11339511	NONHSAT026929
27	lnc-PRB1-1	chr12:11552784-11552937	ENSG00000255790.1
28	lnc-PRB4-2	chr12:11420927-11421082	NONHSAT026934
29	lnc-PRB4-2	chr12:11420109-11420359	NONHSAT026934
30	lnc-TAS2R43-1	chr12:11229368-11231770	NONHSAT026918
31	lnc-PRB4-1	chr12:11463270-11463369	NONHSAT026935

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
PRB2	TF binding region
TAS2R18	TF binding region
PRB1	TF binding region
TAS2R64P	TF binding region
PRR4	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
PRB2	CpG island
TAS2R18	CpG island
PRB1	CpG island
TAS2R64P	CpG island
PRR4	CpG island
PRB3	CpG island
TAS2R67P	CpG island
ENSG00000186136	chromatin interactions
ENSG00000256629	chromatin interactions
ENSG00000133858	chromatin interactions
ENSG00000111215	chromatin interactions
ENSG00000255958	chromatin interactions
ENSG00000121381	chromatin interactions
ENSG00000212127	chromatin interactions
ENSG00000256373	chromatin interactions
ENSG00000111196	chromatin interactions
ENSG00000034510	chromatin interactions
ENSG00000256888	chromatin interactions
ENSG00000253095	chromatin interactions
ENSG00000173451	chromatin interactions
ENSG00000256712	chromatin interactions
ENSG00000139112	chromatin interactions
ENSG00000127884	chromatin interactions
ENSG00000256537	chromatin interactions
ENSG00000176890	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000255790	chromatin interactions
ARID5B	miRNA target sites
FBXW7	miRNA target sites

Extended variants
information (count: 13573 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:13573 , 50 per page) page: 1 2 3 4 5 6 7 ... 272

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374074547	chr12:11214215-11214216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371448520	chr12:11214228-11214229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375412933	chr12:11214238-11214239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374212046	chr12:11214264-11214265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372334609	chr12:11214269-11214270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377505981	chr12:11214273-11214274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376359978	chr12:11214274-11214275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376020270	chr12:11214299-11214300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369672636	chr12:11214300-11214301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs367944505	chr12:11214323-11214324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371367179	chr12:11214336-11214337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73260771	chr12:11214360-11214361	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs377597598	chr12:11214380-11214381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115475128	chr12:11214383-11214384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs377411404	chr12:11214384-11214385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200171449	chr12:11214386-11214387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575734028	chr12:11214387-11214388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200937291	chr12:11214392-11214393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548476160	chr12:11214419-11214420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs72477410	chr12:11214437-11214438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs72477411	chr12:11214455-11214456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200936852	chr12:11214472-11214473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374662609	chr12:11214475-11214476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200687763	chr12:11214484-11214485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537338046	chr12:11214497-11214498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200321584	chr12:11214500-11214501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370679216	chr12:11214515-11214516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201120984	chr12:11214518-11214519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74198939	chr12:11214535-11214536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373675584	chr12:11214545-11214546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573226377	chr12:11214559-11214560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570933574	chr12:11214563-11214564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531912710	chr12:11214568-11214569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376408921	chr12:11214624-11214625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201847607	chr12:11214632-11214633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs202165583	chr12:11214633-11214634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377736590	chr12:11214634-11214635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191209206	chr12:11214640-11214641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182534460	chr12:11214654-11214655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373647255	chr12:11214664-11214665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555711701	chr12:11214667-11214668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367826465	chr12:11214683-11214684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371012849	chr12:11214693-11214694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374434347	chr12:11214705-11214706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368655677	chr12:11214713-11214714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575651270	chr12:11214714-11214715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372519657	chr12:11214728-11214729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544516029	chr12:11214738-11214739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371888146	chr12:11214744-11214745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375315747	chr12:11214756-11214757	Weak transcription	n/a	n/a	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:2520 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11169400-11219400	Weak transcription	HUVEC	blood vessel
2	chr12:11171000-11225600	Weak transcription	HSMMtube	muscle
3	chr12:11179000-11223800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:11179400-11222000	Weak transcription	Fetal Kidney	kidney
5	chr12:11181000-11217400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:11181000-11220000	Weak transcription	Gastric	stomach
7	chr12:11181000-11224800	Weak transcription	Fetal Stomach	stomach
8	chr12:11193200-11224200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:11196600-11215000	Weak transcription	NHLF	lung
10	chr12:11198000-11230200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr12:11199800-11222800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:11201600-11227800	Weak transcription	HSMM	muscle
13	chr12:11203600-11216800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:11203600-11240000	Weak transcription	Ovary	ovary
15	chr12:11203800-11261200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:11204600-11224000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:11204600-11227600	Weak transcription	Fetal Lung	lung
18	chr12:11204800-11247600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr12:11205800-11218200	Weak transcription	Primary B cells from cord blood	blood
20	chr12:11205800-11269200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:11206000-11221600	Weak transcription	Fetal Muscle Leg	muscle
22	chr12:11207000-11223000	Weak transcription	HepG2	liver
23	chr12:11207000-11224200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:11208400-11214400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:11208600-11218400	Weak transcription	Primary T cells from cord blood	blood
26	chr12:11208600-11228000	Weak transcription	Dnd41	blood
27	chr12:11208600-11232400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:11208600-11259600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:11211600-11227800	Weak transcription	Aorta	Aorta
30	chr12:11211800-11223000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:11211800-11225000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr12:11212000-11217400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr12:11212000-11225600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:11212600-11224200	Weak transcription	Brain Angular Gyrus	brain
35	chr12:11212600-11224200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr12:11212600-11234400	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr12:11214000-11214400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:11214000-11214400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr12:11214000-11214400	Enhancers	Fetal Heart	heart
40	chr12:11214000-11214600	Enhancers	Brain Substantia Nigra	brain
41	chr12:11214200-11214400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:11214200-11214600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:11214200-11220200	Weak transcription	Small Intestine	intestine
44	chr12:11214400-11214600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr12:11214600-11215000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr12:11214600-11222200	Weak transcription	Brain Substantia Nigra	brain
47	chr12:11214600-11225400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:11215000-11215400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr12:11216400-11228000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:11217200-11218200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived

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