Variant report

Variant	nsv1040169
Chromosome Location	chr12:122096825-122209555
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3599)
CpG islands
(count:2081)
Chromatin interactive
region (count:279)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3599 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:122176141-122176626	K562	blood:	n/a	chr12:122176247-122176263
2	ARID3A	chr12:122147435-122147746	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:122101745-122101764	K562	blood:	n/a	n/a
4	ARID3A	chr12:122124540-122125133	K562	blood:	n/a	n/a
5	ARID3A	chr12:122186826-122187121	HepG2	liver:	n/a	n/a
6	ARID3A	chr12:122120050-122120177	K562	blood:	n/a	n/a
7	ARID3A	chr12:122135014-122135326	HepG2	liver:	n/a	n/a
8	ARID3A	chr12:122179728-122179897	K562	blood:	n/a	n/a
9	ARID3A	chr12:122124663-122125181	HepG2	liver:	n/a	n/a
10	ARID3A	chr12:122135039-122135335	K562	blood:	n/a	n/a
11	ARID3A	chr12:122180751-122181242	K562	blood:	n/a	n/a
12	ARID3A	chr12:122096998-122097123	K562	blood:	n/a	n/a
13	ARID3A	chr12:122155029-122155248	K562	blood:	n/a	n/a
14	ATF1	chr12:122176207-122176558	K562	blood:	n/a	n/a
15	ATF1	chr12:122124733-122125221	K562	blood:	n/a	n/a
16	ATF1	chr12:122154888-122155385	K562	blood:	n/a	n/a
17	ATF1	chr12:122150007-122150309	K562	blood:	n/a	n/a
18	ATF1	chr12:122097935-122098277	K562	blood:	n/a	n/a
19	ATF1	chr12:122186507-122187146	K562	blood:	n/a	n/a
20	ATF1	chr12:122180824-122181237	K562	blood:	n/a	n/a
21	ATF2	chr12:122124775-122125287	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF2	chr12:122154984-122155247	H1-hESC	embryonic stem cell:	n/a	n/a
23	ATF2	chr12:122101721-122102342	GM12878	blood:	n/a	n/a
24	ATF2	chr12:122097961-122098205	GM12878	blood:	n/a	n/a
25	ATF2	chr12:122124789-122125176	GM12878	blood:	n/a	n/a
26	ATF2	chr12:122146182-122146689	GM12878	blood:	n/a	n/a
27	ATF2	chr12:122150327-122150581	GM12878	blood:	n/a	n/a
28	ATF2	chr12:122150212-122150545	H1-hESC	embryonic stem cell:	n/a	n/a
29	ATF2	chr12:122124673-122125310	H1-hESC	embryonic stem cell:	n/a	n/a
30	ATF2	chr12:122101895-122102382	GM12878	blood:	n/a	n/a
31	ATF2	chr12:122124701-122125363	GM12878	blood:	n/a	n/a
32	ATF2	chr12:122097950-122098215	GM12878	blood:	n/a	n/a
33	ATF3	chr12:122101811-122102178	H1-hESC	embryonic stem cell:	n/a	n/a
34	ATF3	chr12:122155011-122155261	K562	blood:	n/a	n/a
35	ATF3	chr12:122186598-122187199	K562	blood:	n/a	n/a
36	ATF3	chr12:122156862-122157082	K562	blood:	n/a	n/a
37	ATF3	chr12:122176125-122176630	K562	blood:	n/a	n/a
38	ATF3	chr12:122186269-122187325	A549	lung:	n/a	n/a
39	ATF3	chr12:122150355-122150801	K562	blood:	n/a	chr12:122150578-122150587 chr12:122150651-122150658 chr12:122150573-122150582
40	ATF3	chr12:122097949-122098246	K562	blood:	n/a	n/a
41	ATF3	chr12:122101835-122102034	H1-hESC	embryonic stem cell:	n/a	n/a
42	ATF3	chr12:122186372-122187225	A549	lung:	n/a	n/a
43	ATF3	chr12:122124775-122125233	A549	lung:	n/a	chr12:122125017-122125030 chr12:122125017-122125028
44	ATF3	chr12:122101790-122102158	GM12878	blood:	n/a	n/a
45	ATF3	chr12:122154930-122155447	K562	blood:	n/a	n/a
46	ATF3	chr12:122150252-122150605	A549	lung:	n/a	chr12:122150578-122150587 chr12:122150573-122150582
47	ATF3	chr12:122101853-122102043	GM12878	blood:	n/a	n/a
48	ATF3	chr12:122098004-122098202	K562	blood:	n/a	n/a
49	ATF3	chr12:122186757-122187099	K562	blood:	n/a	n/a
50	ATF3	chr12:122101795-122102100	K562	blood:	n/a	n/a

(count:2081 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:122196768-122196818	AoSMC	blood vessel:	n/a
2	chr12:122124982-122125032	K562	blood:	n/a
3	chr12:122108335-122108385	HRE	kidney:	n/a
4	chr12:122108335-122108385	HUVEC	blood vessel:	n/a
5	chr12:122110544-122110594	HMEC	breast:	n/a
6	chr12:122150491-122150541	BE2_C	brain:	n/a
7	chr12:122196287-122196337	PrEC	prostate:	n/a
8	chr12:122196768-122196818	AoSMC	blood vessel:	n/a
9	chr12:122124982-122125032	K562	blood:	n/a
10	chr12:122108335-122108385	HRE	kidney:	n/a
11	chr12:122108335-122108385	HUVEC	blood vessel:	n/a
12	chr12:122110544-122110594	HMEC	breast:	n/a
13	chr12:122150491-122150541	BE2_C	brain:	n/a
14	chr12:122196287-122196337	PrEC	prostate:	n/a
15	chr12:122151762-122151812	AG09319	gingival:	n/a
16	chr12:122150893-122150943	AG04449	skin:	fetal
17	chr12:122150491-122150541	HL-60	blood:	n/a
18	chr12:122110594-122110644	SK-N-SH	brain:	n/a
19	chr12:122196768-122196818	LNCaP	prostate:	n/a
20	chr12:122150291-122150341	BE2_C	brain:	n/a
21	chr12:122124840-122124890	PANC-1	pancreas:	n/a
22	chr12:122124982-122125032	GM12878	blood:	n/a
23	chr12:122149765-122149815	HUVEC	blood vessel:	n/a
24	chr12:122110594-122110644	NT2-D1	testis:	n/a
25	chr12:122151003-122151053	AG10803	skin:	n/a
26	chr12:122121012-122121062	MCF10A-Er-Src	breast:	n/a
27	chr12:122124982-122125032	HCF	heart:	n/a
28	chr12:122110467-122110517	LNCaP	prostate:	n/a
29	chr12:122108663-122108713	HAEpiC	amniotic membrane:	n/a
30	chr12:122124739-122124789	HIPEpiC	eye:	n/a
31	chr12:122125276-122125326	AoSMC	blood vessel:	n/a
32	chr12:122125276-122125326	GM06990	blood:	n/a
33	chr12:122205609-122205659	AG10803	skin:	n/a
34	chr12:122124982-122125032	GM06990	blood:	n/a
35	chr12:122150344-122150394	AG10803	skin:	n/a
36	chr12:122124739-122124789	GM06990	blood:	n/a
37	chr12:122196287-122196337	HMEC	breast:	n/a
38	chr12:122108663-122108713	AG10803	skin:	n/a
39	chr12:122110467-122110517	AoSMC	blood vessel:	n/a
40	chr12:122107453-122107503	AG09319	gingival:	n/a
41	chr12:122158208-122158258	AG04449	skin:	fetal
42	chr12:122108335-122108385	A549	lung:	n/a
43	chr12:122124982-122125032	CMK	blood:	n/a
44	chr12:122150719-122150769	GM12892	blood:	n/a
45	chr12:122116709-122116759	GM06990	blood:	n/a
46	chr12:122110594-122110644	Jurkat	blood:	n/a
47	chr12:122108663-122108713	A549	lung:	n/a
48	chr12:122125276-122125326	PrEC	prostate:	n/a
49	chr12:122150719-122150769	GM19239	blood:	n/a
50	chr12:122186536-122186586	HMEC	breast:	n/a

(count:279 , 50 per page) page: 1 2 3 4 5 6

No.	Distal block	Cell Line	Cell type
1	chr12:122185135..122187179-chr12:122190114..122193871,4	K562	blood:
2	chr12:122149138..122151891-chr12:122182134..122184327,2	MCF-7	breast:
3	chr12:122124453..122127425-chr12:122127713..122130672,3	K562	blood:
4	chr12:122123518..122126727-chr12:122231097..122233939,3	MCF-7	breast:
5	chr12:122189168..122192098-chr12:122209448..122211416,2	K562	blood:
6	chr12:122154279..122156536-chr12:122192092..122194688,2	MCF-7	breast:
7	chr12:122148639..122153380-chr12:122238008..122242328,5	MCF-7	breast:
8	chr12:122129949..122131522-chr12:122133485..122135302,2	K562	blood:
9	chr12:122149726..122151344-chr12:122176465..122178233,2	K562	blood:
10	chr12:122155312..122157141-chr12:122174374..122176796,2	K562	blood:
11	chr12:122149421..122152814-chr12:122185119..122186671,3	MCF-7	breast:
12	chr12:122149038..122151037-chr12:122156943..122158601,2	K562	blood:
13	chr12:122101998..122103824-chr12:122123372..122125942,2	K562	blood:
14	chr12:122191528..122194366-chr12:122203960..122205884,2	MCF-7	breast:
15	chr12:122196785..122199427-chr12:122208494..122211480,2	MCF-7	breast:
16	chr12:121837107..121838879-chr12:122158045..122160589,2	K562	blood:
17	chr12:122170094..122172075-chr12:122191951..122194592,2	MCF-7	breast:
18	chr12:122091567..122095295-chr12:122101432..122103778,3	K562	blood:
19	chr12:122203003..122205744-chr12:122206968..122208544,2	K562	blood:
20	chr12:121903895..121905502-chr12:122123601..122125123,2	K562	blood:
21	chr12:122196785..122199427-chr12:122208494..122211480,2	MCF-7	breast:
22	chr12:121916414..121917326-chr12:122119708..122120635,3	K562	blood:
23	chr12:122067919..122069512-chr12:122100581..122103506,2	K562	blood:
24	chr12:122180307..122183056-chr12:122185275..122189745,5	K562	blood:
25	chr12:121986936..121988892-chr12:122109089..122111571,2	MCF-7	breast:
26	chr12:122149249..122152147-chr12:122229581..122233327,7	MCF-7	breast:
27	chr12:122134662..122135654-chr12:122210878..122211737,2	MCF-7	breast:
28	chr12:122207172..122208678-chr12:122212545..122214339,2	MCF-7	breast:
29	chr12:122138252..122140524-chr12:122161375..122164016,2	MCF-7	breast:
30	chr12:122125009..122127418-chr12:122238463..122240400,2	K562	blood:
31	chr12:122135150..122137253-chr12:122230158..122231709,2	MCF-7	breast:
32	chr12:122125224..122127960-chr12:122132175..122134959,2	K562	blood:
33	chr12:122141083..122143497-chr12:122146339..122148125,2	K562	blood:
34	chr12:122154279..122156536-chr12:122192092..122194688,2	MCF-7	breast:
35	chr12:122192032..122196057-chr12:122196899..122200786,5	MCF-7	breast:
36	chr12:122123715..122126577-chr12:122127730..122130596,2	K562	blood:
37	chr12:122114958..122116591-chr12:122123026..122125296,2	K562	blood:
38	chr12:122192772..122195093-chr12:122197272..122199194,2	MCF-7	breast:
39	chr12:122149101..122151899-chr12:122169083..122170683,2	MCF-7	breast:
40	chr12:122148985..122154094-chr12:122210649..122217008,11	MCF-7	breast:
41	chr12:122125187..122126836-chr12:122146753..122149407,2	MCF-7	breast:
42	chr12:122165678..122167357-chr12:122170260..122172595,2	K562	blood:
43	chr12:122200552..122202260-chr12:122204854..122206722,2	MCF-7	breast:
44	chr12:122190799..122194662-chr12:122203499..122206586,3	MCF-7	breast:
45	chr12:122125178..122127616-chr12:122187006..122188526,2	K562	blood:
46	chr11:85955821..85956367-chr12:122150370..122150929,2	NB4	blood:
47	chr12:122122979..122124962-chr12:122238529..122240988,3	K562	blood:
48	chr12:122141897..122143809-chr12:122241612..122244065,2	MCF-7	breast:
49	chr12:122186590..122187486-chr12:122230711..122231592,3	MCF-7	breast:
50	chr12:122129486..122132177-chr12:122133485..122135304,3	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM120B-2	chr12:122125156-122125192	NONHSAT031436
2	lnc-RHOF-2	chr12:122205867-122206150	expReg_chr12_11289_-
3	lnc-TMEM120B-1	chr12:122130465-122130794	NONHSAT031437
4	lnc-RHOF-3	chr12:122205380-122205595	l_747_chr12:122202817-122205595_adrenal
5	lnc-TMEM120B-2	chr12:122126974-122127177	NONHSAT031436
6	lnc-RHOF-3	chr12:122202818-122203125	l_747_chr12:122202817-122205595_adrenal
7	lnc-RHOF-3	chr12:122204882-122205378	l_747_chr12:122202817-122205595_adrenal
8	lnc-TMEM120B-2	chr12:122128146-122128265	NONHSAT031436

No data

Variant related genes	Relation type
MORN3	TF binding region
TMEM120B	TF binding region
MORN3	CpG island
TMEM120B	CpG island
ENSG00000089094	chromatin interactions
ENSG00000153406	chromatin interactions
ENSG00000256742	chromatin interactions
ENSG00000139714	chromatin interactions
ENSG00000139718	chromatin interactions
ENSG00000089053	chromatin interactions
ENSG00000212694	chromatin interactions
ENSG00000178538	chromatin interactions
ENSG00000272849	chromatin interactions
ENSG00000074266	chromatin interactions
ENSG00000185085	chromatin interactions
ENSG00000241685	chromatin interactions
ENSG00000182500	chromatin interactions
ENSG00000170633	chromatin interactions
ENSG00000103415	chromatin interactions
ENSG00000139725	chromatin interactions
ENSG00000188735	chromatin interactions
ENSG00000188987	chromatin interactions

Extended variants
information (count: 4905 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:4905 , 50 per page) page: 1 2 3 4 5 6 7 ... 99

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186673248	chr12:122096831-122096832	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs149392095	chr12:122096850-122096851	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs191129375	chr12:122096856-122096857	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs551198216	chr12:122096866-122096867	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs569378597	chr12:122096872-122096873	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs536869130	chr12:122096874-122096875	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs367562043	chr12:122096881-122096882	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs567110458	chr12:122096885-122096886	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs534653943	chr12:122096964-122096965	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs553184021	chr12:122096993-122096994	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs11043313	chr12:122097007-122097008	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs538987285	chr12:122097027-122097028	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs557509970	chr12:122097042-122097043	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs61952215	chr12:122097043-122097044	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs398044835	chr12:122097044-122097045	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs55657010	chr12:122097045-122097046	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs386377983	chr12:122097051-122097052	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs67361037	chr12:122097064-122097065	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs201938087	chr12:122097066-122097067	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs543127164	chr12:122097069-122097070	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs57639477	chr12:122097071-122097072	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs59026522	chr12:122097074-122097075	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs375019396	chr12:122097078-122097079	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs368068254	chr12:122097094-122097095	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs201938177	chr12:122097097-122097098	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs145602619	chr12:122097101-122097102	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs371571499	chr12:122097131-122097132	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs561505561	chr12:122097137-122097138	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs373805142	chr12:122097139-122097140	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs367687371	chr12:122097140-122097141	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs573381129	chr12:122097160-122097161	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs148910019	chr12:122097183-122097184	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs144746358	chr12:122097184-122097185	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs143646536	chr12:122097214-122097215	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs372345130	chr12:122097299-122097300	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs532805854	chr12:122097303-122097304	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs2720032	chr12:122097305-122097306	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs58861573	chr12:122097324-122097325	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs547460523	chr12:122097329-122097330	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs142800261	chr12:122097336-122097337	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs55697220	chr12:122097346-122097347	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs567171356	chr12:122097365-122097366	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs534772904	chr12:122097368-122097369	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs539023370	chr12:122097422-122097423	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs571056108	chr12:122097430-122097431	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs546591660	chr12:122097439-122097440	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs140383326	chr12:122097443-122097444	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs573570749	chr12:122097446-122097447	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs571488520	chr12:122097449-122097450	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs538532166	chr12:122097450-122097451	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
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
Urothelial carcinoma	21177765	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
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3639 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122080400-122097000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr12:122081000-122097000	Weak transcription	Fetal Lung	lung
3	chr12:122081800-122101400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:122091000-122110000	Weak transcription	Pancreas	Pancrea
5	chr12:122091200-122097000	Weak transcription	Lung	lung
6	chr12:122091200-122109600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:122095000-122097600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:122095200-122097800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:122095400-122102000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:122095600-122097200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:122096000-122097800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr12:122096200-122098000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr12:122096400-122097400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
14	chr12:122096400-122097400	Enhancers	Fetal Muscle Trunk	muscle
15	chr12:122096400-122097400	Flanking Active TSS	NHEK	skin
16	chr12:122096400-122097600	Flanking Active TSS	K562	blood
17	chr12:122096400-122097800	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr12:122096400-122097800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:122096400-122097800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:122096400-122097800	Enhancers	Stomach Mucosa	stomach
21	chr12:122096400-122098000	Flanking Active TSS	Dnd41	blood
22	chr12:122096600-122097000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:122096600-122097000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr12:122096600-122097000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr12:122096600-122097000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:122096600-122097000	Active TSS	Colonic Mucosa	Colon
27	chr12:122096600-122097000	Flanking Active TSS	Esophagus	oesophagus
28	chr12:122096600-122097000	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr12:122096600-122097200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr12:122096600-122097200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr12:122096600-122097200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:122096600-122097200	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr12:122096600-122097200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:122096600-122097200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:122096600-122097200	Active TSS	Brain Hippocampus Middle	brain
36	chr12:122096600-122097200	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr12:122096600-122097200	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr12:122096600-122097200	Enhancers	Fetal Intestine Large	intestine
39	chr12:122096600-122097200	Flanking Active TSS	Fetal Intestine Small	intestine
40	chr12:122096600-122097200	Genic enhancers	Placenta	Placenta
41	chr12:122096600-122097200	Active TSS	Rectal Smooth Muscle	rectum
42	chr12:122096600-122097200	Flanking Active TSS	HUVEC	blood vessel
43	chr12:122096600-122097200	Enhancers	NH-A	brain
44	chr12:122096600-122097200	Flanking Active TSS	Osteobl	bone
45	chr12:122096600-122097400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr12:122096600-122097400	Enhancers	H1 Cell Line	embryonic stem cell
47	chr12:122096600-122097400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:122096600-122097400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:122096600-122097400	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr12:122096600-122097400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links