Variant report

Variant	rs2131081
Chromosome Location	chr12:40586631-40586632
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr12:40586600-40587183	GM12878	blood:	n/a	n/a
2	MEF2C	chr12:40586610-40587295	GM12878	blood:	n/a	n/a
3	CHD1	chr12:40586562-40587281	GM12878	blood:	n/a	n/a
4	YY1	chr12:40586471-40586981	GM12878	blood:	n/a	n/a
5	SP1	chr12:40586382-40587148	GM12878	blood:	n/a	n/a
6	RELA	chr12:40586393-40587378	GM12891	blood:	n/a	n/a
7	BCL11A	chr12:40586465-40587065	GM12878	blood:	n/a	n/a
8	YY1	chr12:40586574-40587002	GM12892	blood:	n/a	n/a
9	MEF2A	chr12:40586530-40587160	GM12878	blood:	n/a	n/a
10	EP300	chr12:40586512-40586952	GM12878	blood:	n/a	n/a
11	EP300	chr12:40586479-40587058	GM12878	blood:	n/a	n/a
12	POU2F2	chr12:40586461-40587281	GM12878	blood:	n/a	n/a
13	FOXM1	chr12:40586404-40587183	GM12878	blood:	n/a	n/a
14	IKZF1	chr12:40586419-40587024	GM12878	blood:	n/a	n/a
15	SPI1	chr12:40586462-40587125	GM12878	blood:	n/a	n/a
16	SPI1	chr12:40586450-40587129	GM12891	blood:	n/a	n/a
17	FOXM1	chr12:40586416-40587137	GM12878	blood:	n/a	n/a
18	ZNF384	chr12:40585946-40587130	GM12878	blood:	n/a	n/a
19	ZNF143	chr12:40586520-40586949	GM12878	blood:	n/a	n/a
20	RELA	chr12:40586366-40587301	GM12878	blood:	n/a	n/a
21	BCLAF1	chr12:40586463-40586857	GM12878	blood:	n/a	n/a
22	WRNIP1	chr12:40586546-40587026	GM12878	blood:	n/a	n/a
23	SPI1	chr12:40586351-40586862	HL-60	blood:	n/a	n/a
24	MTA3	chr12:40586401-40587222	GM12878	blood:	n/a	n/a
25	RELA	chr12:40586253-40587360	GM18951	blood:	n/a	n/a
26	SP1	chr12:40586448-40587141	GM12878	blood:	n/a	n/a
27	PAX5	chr12:40586410-40587177	GM12878	blood:	n/a	chr12:40586893-40586912
28	EBF1	chr12:40586394-40587108	GM12878	blood:	n/a	n/a
29	MAX	chr12:40586370-40586893	GM12878	blood:	n/a	n/a
30	RELA	chr12:40586374-40587289	GM19099	blood:	n/a	n/a
31	SPI1	chr12:40586467-40586710	GM12878	blood:	n/a	n/a
32	EP300	chr12:40586294-40587217	GM12878	blood:	n/a	n/a
33	POU2F2	chr12:40586522-40587117	GM12878	blood:	n/a	n/a
34	PAX5	chr12:40586551-40587049	GM12878	blood:	n/a	chr12:40586893-40586912
35	USF2	chr12:40586520-40586847	GM12878	blood:	n/a	n/a
36	MEF2A	chr12:40586387-40587187	GM12878	blood:	n/a	n/a
37	RCOR1	chr12:40586329-40587132	GM12878	blood:	n/a	n/a
38	ATF2	chr12:40586412-40587192	GM12878	blood:	n/a	n/a
39	RELA	chr12:40586442-40587486	GM19193	blood:	n/a	n/a
40	ATF2	chr12:40586416-40587052	GM12878	blood:	n/a	n/a
41	RUNX3	chr12:40586380-40587138	GM12878	blood:	n/a	n/a
42	PAX5	chr12:40586531-40587119	GM12878	blood:	n/a	chr12:40586893-40586912
43	NFIC	chr12:40586156-40587180	GM12878	blood:	n/a	n/a
44	MXI1	chr12:40586282-40587213	GM12878	blood:	n/a	n/a
45	SPI1	chr12:40586252-40587283	GM12878	blood:	n/a	n/a
46	EP300	chr12:40586482-40587248	GM12878	blood:	n/a	n/a
47	STAT3	chr12:40586543-40587070	GM12878	blood:	n/a	n/a
48	SRF	chr12:40586555-40586950	GM12878	blood:	n/a	n/a
49	BCL11A	chr12:40586564-40587015	GM12878	blood:	n/a	n/a
50	BCLAF1	chr12:40586427-40586922	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
LRRK2	TF binding region

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10506143	1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10506144	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10506146	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10506147	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs10878244	1.00[JPT][hapmap]
rs11174697	1.00[JPT][hapmap]
rs11175186	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11175593	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs11564107	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs11564108	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11564117	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11564123	1.00[JPT][hapmap]
rs11564131	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11564152	1.00[JPT][hapmap]
rs11564153	1.00[JPT][hapmap]
rs11564187	1.00[JPT][hapmap]
rs11564190	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11564196	1.00[JPT][hapmap]
rs11564210	1.00[JPT][hapmap]
rs11564212	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11564214	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11564216	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11564218	1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11564271	1.00[JPT][hapmap]
rs12422544	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12422796	1.00[JPT][hapmap]
rs12423419	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs12423551	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs12424294	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12425561	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12425630	1.00[EUR][1000 genomes]
rs12426378	1.00[JPT][hapmap]
rs12426643	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12427022	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12427245	1.00[JPT][hapmap]
rs1388585	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1388597	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1463717	1.00[JPT][hapmap]
rs1491945	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17443600	1.00[JPT][hapmap]
rs17444054	1.00[JPT][hapmap]
rs17458808	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17461387	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17461575	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs17461692	1.00[EUR][1000 genomes]
rs17465610	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs17483919	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17484003	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17484141	1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28365169	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28365173	1.00[CHB][hapmap]
rs28365206	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34567498	1.00[EUR][1000 genomes]
rs4628750	1.00[JPT][hapmap]
rs4767962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4767964	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767965	0.88[AMR][1000 genomes]
rs4768213	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4768226	1.00[JPT][hapmap]
rs4768228	1.00[JPT][hapmap]
rs535458	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1045516	chr12:40543200-40589557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
3	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40585600-40587200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr12:40585800-40587000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:40585800-40587200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr12:40585800-40587400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr12:40586000-40586800	Enhancers	Primary B cells from cord blood	blood
6	chr12:40586000-40586800	Enhancers	Primary B cells from peripheral blood	blood
7	chr12:40586000-40587000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:40586000-40587000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr12:40586000-40587400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr12:40586000-40587600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr12:40586000-40591000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr12:40586200-40586800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:40586200-40586800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:40586200-40587000	Active TSS	GM12878-XiMat	blood
15	chr12:40586200-40587200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr12:40586200-40591600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr12:40586400-40587000	Enhancers	Primary hematopoietic stem cells	blood
18	chr12:40586400-40587000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:40586400-40587200	Enhancers	HUVEC	blood vessel
20	chr12:40586600-40587000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:40586600-40587200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links