Variant report

Variant	rs11695661
Chromosome Location	chr2:152564350-152564351
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152525703..152527793-chr2:152563733..152565410,2	K562	blood:
2	chr2:152563836..152565601-chr2:152630541..152632941,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10167462	1.00[CEU][hapmap];0.95[GIH][hapmap];0.80[MEX][hapmap]
rs10170273	0.94[CEU][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes]
rs10172692	0.83[EUR][1000 genomes]
rs10178880	0.94[CEU][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap]
rs10193188	1.00[CEU][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.81[LWK][hapmap];0.95[MKK][hapmap];0.92[TSI][hapmap];0.92[EUR][1000 genomes]
rs1054883	0.94[CEU][hapmap];0.95[GIH][hapmap];0.89[JPT][hapmap];0.80[MEX][hapmap]
rs10930740	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs10930777	0.91[EUR][1000 genomes]
rs12052828	1.00[CEU][hapmap];0.94[JPT][hapmap];0.95[EUR][1000 genomes]
rs12328501	0.80[EUR][1000 genomes]
rs12464543	0.88[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.81[CHD][hapmap];0.97[GIH][hapmap];0.80[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.96[TSI][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12472627	0.81[GIH][hapmap]
rs12616767	0.94[CEU][hapmap]
rs12620077	0.94[CEU][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap]
rs12693090	0.95[EUR][1000 genomes]
rs13015219	0.87[EUR][1000 genomes]
rs13032138	0.94[CEU][hapmap];0.89[JPT][hapmap]
rs13404704	0.94[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes]
rs1357468	0.87[CEU][hapmap];0.90[GIH][hapmap]
rs1799	0.94[CEU][hapmap];0.95[GIH][hapmap];0.89[JPT][hapmap];0.80[MEX][hapmap]
rs2344733	0.94[CEU][hapmap]
rs4077121	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4077122	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4271765	0.87[AFR][1000 genomes]
rs4273217	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs4274593	0.89[EUR][1000 genomes]
rs4289189	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs4300824	0.81[GIH][hapmap]
rs4309576	0.89[EUR][1000 genomes]
rs4349344	0.89[EUR][1000 genomes]
rs4355107	0.89[EUR][1000 genomes]
rs4358117	0.81[EUR][1000 genomes]
rs4374369	1.00[CEU][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4375863	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4381781	1.00[CEU][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4413159	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4414677	0.81[GIH][hapmap]
rs4425075	1.00[CEU][hapmap];0.94[JPT][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4465763	1.00[CEU][hapmap];0.82[CHB][hapmap];0.96[EUR][1000 genomes]
rs4508593	0.89[EUR][1000 genomes]
rs4508594	0.89[EUR][1000 genomes]
rs4536649	0.94[CEU][hapmap];0.88[GIH][hapmap]
rs4564766	1.00[CEU][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.96[TSI][hapmap];0.95[EUR][1000 genomes]
rs4611637	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4614931	1.00[CEU][hapmap];0.97[GIH][hapmap];0.85[MEX][hapmap];0.89[EUR][1000 genomes]
rs4625904	1.00[CEU][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4664494	0.82[CEU][hapmap];0.87[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap]
rs4664497	1.00[CEU][hapmap];0.80[JPT][hapmap];0.96[EUR][1000 genomes]
rs4664498	0.83[GIH][hapmap]
rs4664501	1.00[CEU][hapmap];0.80[JPT][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4664502	0.91[EUR][1000 genomes]
rs6433566	0.96[EUR][1000 genomes]
rs6433569	0.97[GIH][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes]
rs6433575	1.00[CEU][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6433603	0.88[EUR][1000 genomes]
rs6433606	0.88[EUR][1000 genomes]
rs6433610	0.89[EUR][1000 genomes]
rs6713162	0.94[CEU][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap]
rs6715755	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6716286	1.00[CEU][hapmap];0.83[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.80[JPT][hapmap];0.92[MEX][hapmap];0.96[TSI][hapmap];0.97[EUR][1000 genomes]
rs6723129	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6729101	0.94[CEU][hapmap];0.88[GIH][hapmap]
rs6730589	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6733811	0.94[JPT][hapmap];0.90[EUR][1000 genomes]
rs6733909	0.94[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.96[TSI][hapmap];0.95[EUR][1000 genomes]
rs6734148	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.86[MEX][hapmap];0.85[MKK][hapmap];0.96[TSI][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6735208	1.00[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6747113	0.84[EUR][1000 genomes]
rs6760384	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7424335	0.83[GIH][hapmap]
rs7426114	0.82[ASW][hapmap];0.94[CEU][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes]
rs7563441	1.00[CEU][hapmap];0.83[CHB][hapmap];0.80[JPT][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7564024	0.93[CEU][hapmap];0.88[GIH][hapmap];0.81[EUR][1000 genomes]
rs7564674	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs7596744	0.94[CEU][hapmap];0.95[GIH][hapmap];0.89[JPT][hapmap];0.80[MEX][hapmap]
rs9287990	0.94[CEU][hapmap];0.86[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934136	chr2:152308156-152664443	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv469804	chr2:152404429-152570882	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv482520	chr2:152404429-152570882	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv933357	chr2:152526786-152591138	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11695661	NEB	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152541400-152566800	Weak transcription	Psoas Muscle	Psoas
2	chr2:152561400-152574800	Strong transcription	Fetal Muscle Leg	muscle
3	chr2:152562000-152565200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
4	chr2:152562200-152582000	Strong transcription	Fetal Muscle Trunk	muscle
5	chr2:152562600-152567800	Strong transcription	HSMMtube	muscle
6	chr2:152563800-152564600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:152563800-152564600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:152563800-152564800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr2:152564000-152564600	Enhancers	H9 Cell Line	embryonic stem cell
10	chr2:152564000-152564600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:152564000-152564600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:152564000-152564600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:152564000-152564800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:152564000-152572400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
15	chr2:152564200-152564400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:152564200-152564600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:152564200-152564600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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