Variant report

Variant	rs946636
Chromosome Location	chr1:180477366-180477367
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180475874..180478191-chr1:180876405..180878892,2	K562	blood:
2	chr1:180462761..180465502-chr1:180475330..180477923,2	K562	blood:
3	chr1:180469977..180474881-chr1:180475033..180479240,11	K562	blood:
4	chr1:180226862..180229211-chr1:180475733..180477754,2	MCF-7	breast:
5	chr1:180476735..180478497-chr1:180482619..180484583,3	K562	blood:
6	chr1:180469977..180473874-chr1:180475273..180479240,10	K562	blood:

Variant related genes	Relation type
ENSG00000225857	Chromatin interaction
ENSG00000135847	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10914021	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs10914022	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs10914035	0.84[EUR][1000 genomes]
rs10914036	0.81[CEU][hapmap]
rs10914038	0.83[EUR][1000 genomes]
rs12027839	0.83[EUR][1000 genomes]
rs12027878	0.83[EUR][1000 genomes]
rs12039331	0.85[CEU][hapmap]
rs12044653	0.83[EUR][1000 genomes]
rs12045365	0.81[EUR][1000 genomes]
rs12407684	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs13373944	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13374104	0.90[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13374665	1.00[CEU][hapmap];0.90[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13376342	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1416822	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16856127	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs17300282	0.95[CEU][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17300340	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17300579	1.00[CEU][hapmap]
rs17300600	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17300712	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17372281	0.95[CEU][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17372295	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17372362	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17372667	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28816398	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4405110	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4446932	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4651065	0.90[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4652509	0.83[EUR][1000 genomes]
rs56759227	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57537558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57882351	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58047798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58089956	0.83[EUR][1000 genomes]
rs58677059	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59022209	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59113753	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59829460	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60927564	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6425643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6425646	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6672501	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6680668	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6694454	0.84[EUR][1000 genomes]
rs6694896	0.80[EUR][1000 genomes]
rs6697232	0.83[EUR][1000 genomes]
rs6702245	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6704001	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72714804	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72714834	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72714847	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72714855	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72714856	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72714861	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72714864	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72714866	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72714870	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72714877	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72714879	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72714887	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72714902	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72716607	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72716615	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72716616	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72716625	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72716627	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72716629	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72716632	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72720914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132851	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs74135185	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7513944	0.81[CEU][hapmap]
rs7517775	1.00[CEU][hapmap];0.80[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7525689	0.92[EUR][1000 genomes]
rs7541993	0.82[CEU][hapmap]
rs7546119	0.81[CEU][hapmap]
rs7547266	0.90[EUR][1000 genomes]
rs7551178	0.82[CEU][hapmap]
rs946631	0.81[CEU][hapmap]
rs961162	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9650999	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2762200	chr1:180300936-180493841	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
4	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
5	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180472400-180477600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:180472400-180481400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:180472800-180488800	Weak transcription	Right Atrium	heart
4	chr1:180473000-180477600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:180474400-180477800	Enhancers	HUVEC	blood vessel
6	chr1:180474800-180481800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:180476200-180478400	Enhancers	NHLF	lung
8	chr1:180476800-180477600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:180476800-180477600	Enhancers	Hela-S3	cervix
10	chr1:180476800-180477800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:180477000-180477600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:180477000-180477600	Enhancers	NHDF-Ad	bronchial
13	chr1:180477000-180477600	Enhancers	Osteobl	bone
14	chr1:180477000-180478200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:180477000-180478600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:180477200-180477400	Enhancers	Brain Substantia Nigra	brain
17	chr1:180477200-180477600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links