Variant report

Variant	nsv1038277
Chromosome Location	chr12:11060978-11504091
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2485)
CpG islands
(count:3728)
Chromatin interactive
region (count:113)
LncRNA
region (count:46)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2485 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:11224069-11224255	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:11352505-11352870	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:11176072-11176303	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:11071698-11071803	HepG2	liver:	n/a	n/a
5	ARID3A	chr12:11168444-11168649	HepG2	liver:	n/a	n/a
6	ATF1	chr12:11311644-11311853	K562	blood:	n/a	n/a
7	ATF1	chr12:11501400-11501725	K562	blood:	n/a	n/a
8	ATF1	chr12:11101214-11101301	K562	blood:	n/a	n/a
9	ATF1	chr12:11063085-11063306	K562	blood:	n/a	n/a
10	ATF2	chr12:11323475-11324633	GM12878	blood:	n/a	n/a
11	ATF2	chr12:11238009-11238486	GM12878	blood:	n/a	n/a
12	ATF2	chr12:11323912-11324638	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr12:11323983-11324469	GM12878	blood:	n/a	n/a
14	ATF2	chr12:11237956-11238445	GM12878	blood:	n/a	n/a
15	ATF3	chr12:11323646-11324312	A549	lung:	n/a	chr12:11324224-11324233
16	BACH1	chr12:11078726-11078738	K562	blood:	n/a	n/a
17	BACH1	chr12:11094869-11095246	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr12:11305514-11305561	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr12:11078901-11079081	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr12:11324079-11324603	H1-hESC	embryonic stem cell:	n/a	n/a
21	BATF	chr12:11225254-11225547	GM12878	blood:	n/a	n/a
22	BATF	chr12:11186566-11186883	GM12878	blood:	n/a	n/a
23	BATF	chr12:11263799-11264109	GM12878	blood:	n/a	n/a
24	BATF	chr12:11335667-11335960	GM12878	blood:	n/a	chr12:11335847-11335858
25	BATF	chr12:11134883-11135228	GM12878	blood:	n/a	n/a
26	BATF	chr12:11247547-11247827	GM12878	blood:	n/a	n/a
27	BATF	chr12:11332273-11332504	GM12878	blood:	n/a	n/a
28	BATF	chr12:11324000-11324292	GM12878	blood:	n/a	n/a
29	BATF	chr12:11288756-11288960	GM12878	blood:	n/a	n/a
30	BATF	chr12:11247482-11247799	GM12878	blood:	n/a	n/a
31	BATF	chr12:11186631-11186911	GM12878	blood:	n/a	n/a
32	BATF	chr12:11238012-11238373	GM12878	blood:	n/a	n/a
33	BATF	chr12:11263857-11264113	GM12878	blood:	n/a	n/a
34	BATF	chr12:11228218-11228560	GM12878	blood:	n/a	n/a
35	BATF	chr12:11216721-11217010	GM12878	blood:	n/a	n/a
36	BATF	chr12:11238084-11238352	GM12878	blood:	n/a	n/a
37	BATF	chr12:11134866-11135249	GM12878	blood:	n/a	n/a
38	BATF	chr12:11288732-11288969	GM12878	blood:	n/a	n/a
39	BCL11A	chr12:11263900-11264159	GM12878	blood:	n/a	n/a
40	BCL11A	chr12:11238061-11238356	GM12878	blood:	n/a	chr12:11238263-11238272
41	BCL11A	chr12:11288728-11288993	GM12878	blood:	n/a	n/a
42	BCL11A	chr12:11186584-11186913	GM12878	blood:	n/a	n/a
43	BCL11A	chr12:11228248-11228517	GM12878	blood:	n/a	n/a
44	BCL11A	chr12:11247500-11247829	GM12878	blood:	n/a	n/a
45	BCL3	chr12:11501361-11501642	GM12878	blood:	n/a	n/a
46	BCL3	chr12:11323610-11324461	A549	lung:	n/a	chr12:11324225-11324234 chr12:11323768-11323777 chr12:11324228-11324237
47	BCL3	chr12:11335602-11335966	GM12878	blood:	n/a	n/a
48	BCL3	chr12:11323498-11324407	A549	lung:	n/a	chr12:11324225-11324234 chr12:11323768-11323777 chr12:11324228-11324237
49	BCL3	chr12:11501365-11501771	GM12878	blood:	n/a	n/a
50	BCLAF1	chr12:11323449-11324512	GM12878	blood:	n/a	chr12:11324225-11324234 chr12:11323768-11323777 chr12:11324228-11324237

(count:3728 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:11324180-11324230	MCF10A-Er-Src	breast:	n/a
2	chr12:11149362-11149412	A549	lung:	n/a
3	chr12:11151522-11151572	PrEC	prostate:	n/a
4	chr12:11464607-11464657	ECC-1	luminal epithelium:	n/a
5	chr12:11081943-11081993	GM12891	blood:	n/a
6	chr12:11174898-11174948	Caco-2	colon:	n/a
7	chr12:11464607-11464657	Jurkat	blood:	n/a
8	chr12:11324180-11324230	MCF10A-Er-Src	breast:	n/a
9	chr12:11149362-11149412	A549	lung:	n/a
10	chr12:11151522-11151572	PrEC	prostate:	n/a
11	chr12:11464607-11464657	ECC-1	luminal epithelium:	n/a
12	chr12:11081943-11081993	GM12891	blood:	n/a
13	chr12:11174898-11174948	Caco-2	colon:	n/a
14	chr12:11464607-11464657	Jurkat	blood:	n/a
15	chr12:11139304-11139354	NHDF-neo	bronchial:	n/a
16	chr12:11184149-11184199	NHDF-neo	bronchial:	n/a
17	chr12:11460710-11460760	RPTEC	kidney:	n/a
18	chr12:11324180-11324230	AG09309	skin:	n/a
19	chr12:11324180-11324230	AoSMC	blood vessel:	n/a
20	chr12:11286360-11286410	AG09309	skin:	n/a
21	chr12:11092816-11092866	Caco-2	colon:	n/a
22	chr12:11139304-11139354	GM12878	blood:	n/a
23	chr12:11151430-11151480	NHDF-neo	bronchial:	n/a
24	chr12:11185058-11185108	HepG2	liver:	n/a
25	chr12:11093283-11093333	Caco-2	colon:	n/a
26	chr12:11081604-11081654	PANC-1	pancreas:	n/a
27	chr12:11139304-11139354	CMK	blood:	n/a
28	chr12:11324278-11324328	PFSK-1	brain:	n/a
29	chr12:11184005-11184055	GM19239	blood:	n/a
30	chr12:11062035-11062085	AG10803	skin:	n/a
31	chr12:11185058-11185108	HIPEpiC	eye:	n/a
32	chr12:11322611-11322661	HIPEpiC	eye:	n/a
33	chr12:11244899-11244949	HPAEpiC	pulmonary alveolar:	n/a
34	chr12:11151622-11151672	CMK	blood:	n/a
35	chr12:11306136-11306186	NHDF-neo	bronchial:	n/a
36	chr12:11151478-11151528	PrEC	prostate:	n/a
37	chr12:11326931-11326981	AG04449	skin:	fetal
38	chr12:11081755-11081805	Jurkat	blood:	n/a
39	chr12:11323616-11323666	SKMC	muscle:	n/a
40	chr12:11216351-11216401	SAEC	small airway:	n/a
41	chr12:11092816-11092866	SAEC	small airway:	n/a
42	chr12:11287344-11287394	MCF-7	breast:	n/a
43	chr12:11174898-11174948	ECC-1	luminal epithelium:	n/a
44	chr12:11082462-11082512	HCPEpiC	choroid plexus:	n/a
45	chr12:11420895-11420945	ECC-1	luminal epithelium:	n/a
46	chr12:11127185-11127235	GM12891	blood:	n/a
47	chr12:11287271-11287321	CMK	blood:	n/a
48	chr12:11324142-11324192	CMK	blood:	n/a
49	chr12:11323616-11323666	IMR90	lung:	fetal
50	chr12:11151478-11151528	MCF10A-Er-Src	breast:	n/a

(count:113 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr12:11380285..11382894-chr12:11638783..11640720,37	MCF-7	breast:
2	chr12:11380955..11381831-chr12:11636473..11637250,2	MCF-7	breast:
3	chr12:11298849..11300758-chr12:11322429..11324461,2	K562	blood:
4	chr12:11326790..11329345-chr12:11330898..11332485,3	K562	blood:
5	chr12:11380800..11382351-chr12:11639202..11640262,7	K562	blood:
6	chr12:11382288..11384076-chr12:11390295..11392363,2	K562	blood:
7	chr12:11210669..11211248-chr5:109800405..109801099,2	MCF-7	breast:
8	chr12:11305963..11307778-chr12:11320595..11323061,2	MCF-7	breast:
9	chr12:11494392..11497234-chr12:11500928..11503308,2	K562	blood:
10	chr12:11355200..11357973-chr12:11364676..11367574,2	K562	blood:
11	chr12:11044254..11045058-chr12:11074291..11074831,2	MCF-7	breast:
12	chr12:10923706..10924220-chr12:11352723..11353239,2	K562	blood:
13	chr12:11058073..11060923-chr12:11099457..11101619,2	K562	blood:
14	chr12:11328230..11331736-chr12:11334279..11336008,3	MCF-7	breast:
15	chr12:11302189..11304127-chr12:11307779..11309438,2	K562	blood:
16	chr12:11304231..11306994-chr12:11309060..11311712,2	K562	blood:
17	chr12:11237724..11239418-chr12:11252570..11254241,2	MCF-7	breast:
18	chr12:11380961..11381600-chr12:11584509..11585267,2	MCF-7	breast:
19	chr12:10563346..10565218-chr12:11316267..11318781,2	K562	blood:
20	chr12:10923804..10924411-chr12:11352563..11353080,2	MCF-7	breast:
21	chr12:11304231..11306994-chr12:11309060..11311712,2	K562	blood:
22	chr12:11157746..11159406-chr12:11165545..11167423,2	K562	blood:
23	chr12:11158423..11160257-chr12:11164352..11165951,2	MCF-7	breast:
24	chr12:11307789..11310150-chr12:11322132..11323842,2	MCF-7	breast:
25	chr12:11321289..11323850-chr12:11635988..11637922,2	MCF-7	breast:
26	chr12:11307789..11310150-chr12:11322132..11323842,2	MCF-7	breast:
27	chr12:11329971..11333286-chr12:11342480..11345891,4	MCF-7	breast:
28	chr12:11271454..11274346-chr12:11279643..11282306,2	MCF-7	breast:
29	chr12:11154648..11156385-chr12:11157901..11159498,2	K562	blood:
30	chr12:11494392..11497234-chr12:11500928..11503308,2	K562	blood:
31	chr12:11322432..11324431-chr12:72056353..72059109,2	MCF-7	breast:
32	chr12:11380630..11381925-chr12:11638833..11640222,16	MCF-7	breast:
33	chr12:11339363..11342084-chr12:11342311..11344244,2	MCF-7	breast:
34	chr12:11323499..11324407-chr2:85132715..85133333,2	Hela-S3	cervix:
35	chr12:11330504..11332010-chr12:11332108..11333745,2	K562	blood:
36	chr12:11352192..11353981-chr12:11359550..11361996,2	MCF-7	breast:
37	chr12:11237724..11239418-chr12:11252570..11254241,2	MCF-7	breast:
38	chr12:11060198..11062060-chr12:11071921..11074796,2	MCF-7	breast:
39	chr12:11393394..11396191-chr12:11397306..11399582,2	K562	blood:
40	chr12:10902631..10903193-chr12:11380478..11381401,2	MCF-7	breast:
41	chr10:135186788..135187434-chr12:11323693..11324221,2	Hela-S3	cervix:
42	chr12:11329898..11330417-chr12:11355501..11356398,2	MCF-7	breast:
43	chr12:11111049..11113421-chr12:11322867..11324787,2	MCF-7	breast:
44	chr12:11312845..11315000-chr12:11322823..11325208,2	MCF-7	breast:
45	chr12:11328030..11329643-chr12:11332675..11334245,2	K562	blood:
46	chr12:11157746..11159406-chr12:11165545..11167423,2	K562	blood:
47	chr12:10994716..10997527-chr12:11072038..11073829,2	K562	blood:
48	chr12:11153714..11156559-chr12:11162296..11164278,2	MCF-7	breast:
49	chr12:11009323..11011109-chr12:11168207..11170860,2	K562	blood:
50	chr12:11381972..11382582-chr12:11639477..11639992,2	MCF-7	breast:

(count:46 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRH1-1	chr12:11199619-11199787	NR_037918
2	lnc-PRH1-1	chr12:11199619-11199640	NONHSAT026908
3	lnc-PRH1-1	chr12:11126254-11126320	NONHSAT026907
4	lnc-PRH1-1	chr12:11199619-11199787	NONHSAT026912
5	lnc-PRH1-1	chr12:11199619-11199787	NONHSAT026907
6	lnc-TAS2R30-1	chr12:11312033-11312410	NONHSAT026922
7	lnc-TAS2R50-1	chr12:11117024-11117951	NONHSAT026913
8	lnc-PRB4-2	chr12:11422540-11422641	NONHSAT026934
9	lnc-PRB4-2	chr12:11420109-11420359	NONHSAT026934
10	lnc-PRH1-1	chr12:11273435-11273779	NONHSAT026920
11	lnc-PRH1-1	chr12:11125883-11126320	NONHSAT026914
12	lnc-PRH1-1	chr12:11158533-11158868	NONHSAT026915
13	lnc-TAS2R46-1	chr12:11200931-11201855	NONHSAT026917
14	lnc-PRB4-2	chr12:11418890-11418962	NONHSAT026934
15	lnc-PRH1-1	chr12:11324021-11324207	NONHSAT026916
16	lnc-PRB4-1	chr12:11462305-11462339	NONHSAT026935
17	lnc-PRB4-1	chr12:11461584-11461816	NONHSAT026935
18	lnc-PRH1-1	chr12:11187381-11187484	NR_037918
19	lnc-PRH1-1	chr12:11273609-11273779	NONHSAT026916
20	lnc-TAS2R43-1	chr12:11229368-11231770	NONHSAT026918
21	lnc-TAS2R43-1	chr12:11229915-11230841	NONHSAT140056
22	lnc-PRH1-1	chr12:11199612-11199787	NONHSAT026916
23	lnc-PRH1-1	chr12:11324021-11324172	NONHSAT026912
24	lnc-PRH2-5	chr12:11338660-11339511	NONHSAT026929
25	lnc-PRH2-2	chr12:11404233-11404303	ENSG00000256373
26	lnc-PRB4-2	chr12:11421567-11421602	NONHSAT026934
27	lnc-PRH2-2	chr12:11365126-11365560	ENSG00000256373
28	lnc-PRH1-1	chr12:11126254-11126320	NONHSAT026908
29	lnc-PRB4-2	chr12:11420927-11421082	NONHSAT026934
30	lnc-TAS2R30-1	chr12:11311384-11312293	NONHSAT026921
31	lnc-TAS2R42-2	chr12:11332272-11333061	NONHSAT026928
32	lnc-PRH1-1	chr12:11187381-11187484	NONHSAT026912
33	lnc-PRH1-1	chr12:11324021-11324059	NONHSAT026920
34	lnc-PRH1-1	chr12:11126254-11126320	NR_037918
35	lnc-TAS2R42-3	chr12:11348987-11349908	NONHSAT026930
36	lnc-TAS2R42-1	chr12:11318689-11318986	ENSG00000256712.1
37	lnc-TAS2R42-1	chr12:11323866-11323952	ENSG00000256712.1
38	lnc-PRH1-1	chr12:11199619-11199713	NONHSAT026914
39	lnc-PRH1-1	chr12:11199619-11199736	NONHSAT026915
40	lnc-PRH1-1	chr12:11126254-11126305	NONHSAT026910
41	lnc-PRH1-1	chr12:11126254-11126320	NONHSAT026912
42	lnc-PRB4-1	chr12:11461162-11461375	NONHSAT026935
43	lnc-PRH1-1	chr12:11324021-11324143	NONHSAT026907
44	lnc-PRH1-1	chr12:11324021-11324224	NR_037918
45	lnc-PRB4-1	chr12:11463270-11463369	NONHSAT026935
46	lnc-PRH1-1	chr12:11090007-11091176	NONHSAT026912

No data

Variant related genes	Relation type
PRB4	TF binding region
TAS2R14	TF binding region
TAS2R46	TF binding region
ENSG00000256712	TF binding region
TAS2R19	TF binding region
TAS2R30	TF binding region
ENSG00000256537	TF binding region
ENSG00000256373	TF binding region
TAS2R42	TF binding region
TAS2R31	TF binding region
TAS2R13	TF binding region
ENSG00000256400	TF binding region
ENSG00000256657	TF binding region
ENSG00000268301	TF binding region
TAS2R43	TF binding region
RNU6-676P	TF binding region
TAS2R15	TF binding region
TAS2R20	TF binding region
TAS2R18	TF binding region
TAS2R50	TF binding region
TAS2R64P	TF binding region
PRR4	TF binding region
TAS2R63P	TF binding region
PRH2	TF binding region
PRB3	TF binding region
TAS2R67P	TF binding region
PRB4	CpG island
TAS2R14	CpG island
TAS2R46	CpG island
ENSG00000256712	CpG island
TAS2R19	CpG island
TAS2R30	CpG island
ENSG00000256537	CpG island
ENSG00000256373	CpG island
TAS2R42	CpG island
TAS2R31	CpG island
TAS2R13	CpG island
ENSG00000256400	CpG island
ENSG00000256657	CpG island
ENSG00000268301	CpG island
TAS2R43	CpG island
RNU6-676P	CpG island
TAS2R15	CpG island
TAS2R20	CpG island
TAS2R18	CpG island
TAS2R50	CpG island
TAS2R64P	CpG island
PRR4	CpG island
TAS2R63P	CpG island
PRH2	CpG island
PRB3	CpG island
TAS2R67P	CpG island
ENSG00000121381	chromatin interactions
ENSG00000255790	chromatin interactions
ENSG00000111215	chromatin interactions
ENSG00000256888	chromatin interactions
ENSG00000127884	chromatin interactions
ENSG00000253095	chromatin interactions
ENSG00000256629	chromatin interactions
ENSG00000256373	chromatin interactions
ENSG00000139112	chromatin interactions
ENSG00000176890	chromatin interactions
ENSG00000133858	chromatin interactions
ENSG00000212127	chromatin interactions
ENSG00000173451	chromatin interactions
ENSG00000256537	chromatin interactions
ENSG00000255958	chromatin interactions
ENSG00000186136	chromatin interactions
ENSG00000034510	chromatin interactions
ENSG00000256712	chromatin interactions
ENSG00000111196	chromatin interactions
ENSG00000223247	chromatin interactions
FBXW7	miRNA target sites
ARID5B	miRNA target sites

Extended variants
information (count: 17581 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:17581 , 50 per page) page: 1 2 3 4 5 6 7 ... 352

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200650602	chr12:11060991-11060992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576141294	chr12:11061012-11061013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373275947	chr12:11061042-11061043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376237809	chr12:11061064-11061065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370341557	chr12:11061065-11061066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150397675	chr12:11061068-11061069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199740114	chr12:11061070-11061071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374041435	chr12:11061089-11061090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143948129	chr12:11061114-11061115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1015443	chr12:11061122-11061123	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs149109598	chr12:11061128-11061129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367621923	chr12:11061130-11061131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201308754	chr12:11061171-11061172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370308524	chr12:11061176-11061177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567360016	chr12:11061193-11061194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143136566	chr12:11061250-11061251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567736542	chr12:11061279-11061280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140528790	chr12:11061286-11061287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370855654	chr12:11061289-11061290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375488942	chr12:11061320-11061321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200842780	chr12:11061345-11061346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148234617	chr12:11061351-11061352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368652295	chr12:11061357-11061358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141663427	chr12:11061358-11061359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372765078	chr12:11061383-11061384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376987737	chr12:11061407-11061408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570122150	chr12:11061413-11061414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200499053	chr12:11061460-11061461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183634674	chr12:11061461-11061462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145310730	chr12:11061468-11061469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs137927359	chr12:11061481-11061482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142394171	chr12:11061507-11061508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554877730	chr12:11061559-11061560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs199954884	chr12:11061570-11061571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs202178459	chr12:11061572-11061573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372007541	chr12:11061577-11061578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34885344	chr12:11061617-11061618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs375353640	chr12:11061627-11061628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369113362	chr12:11061634-11061635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186943149	chr12:11061644-11061645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576483566	chr12:11061712-11061713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201536455	chr12:11061722-11061723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375415951	chr12:11061759-11061760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111298542	chr12:11061765-11061766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373477868	chr12:11061776-11061777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376152400	chr12:11061777-11061778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139430284	chr12:11061834-11061835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149629304	chr12:11061847-11061848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370449799	chr12:11061868-11061869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530699969	chr12:11061874-11061875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Incontinentia Pigmenti	22033527	CNVD
Recurrent pregnancy loss	19789632	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Osteosarcoma	21215367	CNVD
Mental retardation	20877625	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	19812545	CNVD
Autism	20531469	CNVD
Cancer	20164920	CNVD

Chromatin state (count:3984 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11033800-11101600	Weak transcription	Ovary	ovary
2	chr12:11039200-11070200	Weak transcription	Left Ventricle	heart
3	chr12:11054400-11084800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:11058000-11081200	Weak transcription	Primary T cells from cord blood	blood
5	chr12:11058200-11081800	Weak transcription	Aorta	Aorta
6	chr12:11059200-11061800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr12:11060600-11068200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:11061400-11061600	Enhancers	HepG2	liver
9	chr12:11061600-11079800	Weak transcription	HepG2	liver
10	chr12:11062800-11063400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr12:11063400-11066200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:11064000-11064200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:11064000-11067000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr12:11064200-11065600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:11065200-11067600	Weak transcription	Placenta	Placenta
16	chr12:11065200-11093000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:11066200-11066800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr12:11069000-11069200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:11069200-11094800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:11070000-11070200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:11070200-11070800	Strong transcription	Left Ventricle	heart
22	chr12:11070400-11070600	Enhancers	Gastric	stomach
23	chr12:11070400-11070800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr12:11070600-11079600	Weak transcription	Gastric	stomach
25	chr12:11070800-11079200	Weak transcription	Left Ventricle	heart
26	chr12:11071200-11071400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:11071400-11079200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:11072000-11072200	Enhancers	A549	lung
29	chr12:11072200-11092800	Weak transcription	A549	lung
30	chr12:11078000-11089400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:11078400-11095800	Weak transcription	Primary B cells from cord blood	blood
32	chr12:11079000-11079600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:11079200-11080000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:11079200-11080000	Enhancers	Left Ventricle	heart
35	chr12:11079600-11080400	Enhancers	Gastric	stomach
36	chr12:11079800-11080200	Enhancers	HepG2	liver
37	chr12:11080000-11095000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:11080000-11101600	Weak transcription	Left Ventricle	heart
39	chr12:11080200-11080400	Enhancers	Psoas Muscle	Psoas
40	chr12:11080200-11081200	Weak transcription	HepG2	liver
41	chr12:11080400-11095400	Weak transcription	Psoas Muscle	Psoas
42	chr12:11081200-11082000	Strong transcription	Primary T cells from cord blood	blood
43	chr12:11081200-11082200	Enhancers	Liver	Liver
44	chr12:11081200-11082200	Enhancers	HepG2	liver
45	chr12:11081800-11082400	Enhancers	Lung	lung
46	chr12:11082000-11101000	Weak transcription	Primary T cells from cord blood	blood
47	chr12:11082200-11094800	Weak transcription	HepG2	liver
48	chr12:11084800-11085400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:11087400-11090000	Weak transcription	Pancreas	Pancrea
50	chr12:11088000-11088200	Enhancers	Brain Substantia Nigra	brain

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