Variant report

Variant	rs6830105
Chromosome Location	chr4:186792215-186792216
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10020233	0.86[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs1026361	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs1026362	0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs1031506	0.94[ASN][1000 genomes]
rs11132357	0.88[ASN][1000 genomes]
rs11132358	0.97[ASN][1000 genomes]
rs11132359	0.91[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs11132360	0.88[ASN][1000 genomes]
rs11132361	0.83[ASN][1000 genomes]
rs11721899	0.91[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs11722545	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11723186	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11725640	0.80[ASN][1000 genomes]
rs11725663	0.88[ASN][1000 genomes]
rs11725739	0.91[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs11727209	0.85[ASN][1000 genomes]
rs11734074	0.88[ASN][1000 genomes]
rs12502204	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs12503031	0.94[ASN][1000 genomes]
rs12504077	0.82[ASN][1000 genomes]
rs12640736	0.83[ASN][1000 genomes]
rs12643549	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs12643665	0.89[ASN][1000 genomes]
rs13114501	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13120232	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13132627	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs13138996	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13139354	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13144263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13144444	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13150309	0.98[ASN][1000 genomes]
rs1566354	0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs2168165	0.97[ASN][1000 genomes]
rs2648109	0.84[ASN][1000 genomes]
rs2648110	0.84[ASN][1000 genomes]
rs34067321	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34122211	0.96[ASN][1000 genomes]
rs34190647	0.80[ASN][1000 genomes]
rs34457125	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34458168	0.97[ASN][1000 genomes]
rs34520754	0.84[ASN][1000 genomes]
rs34546820	0.84[ASN][1000 genomes]
rs34712366	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34764127	0.86[ASN][1000 genomes]
rs34977118	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35173472	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35318302	0.94[ASN][1000 genomes]
rs35504695	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35578127	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35820308	0.98[ASN][1000 genomes]
rs35834071	0.98[ASN][1000 genomes]
rs36076360	0.98[ASN][1000 genomes]
rs4343763	0.87[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs4529103	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4861687	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4861688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4862581	0.84[ASN][1000 genomes]
rs4862582	0.83[ASN][1000 genomes]
rs4862583	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4862584	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4862586	0.82[CHB][hapmap];0.85[ASN][1000 genomes]
rs55737156	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55926227	0.97[ASN][1000 genomes]
rs55990211	0.88[ASN][1000 genomes]
rs56086066	0.88[ASN][1000 genomes]
rs56122940	0.82[AMR][1000 genomes]
rs56130639	0.81[ASN][1000 genomes]
rs56218413	0.97[ASN][1000 genomes]
rs56370835	0.89[ASN][1000 genomes]
rs56977523	0.91[ASN][1000 genomes]
rs62334982	0.83[ASN][1000 genomes]
rs62334984	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62335022	0.88[ASN][1000 genomes]
rs6552934	0.82[ASN][1000 genomes]
rs6825889	0.85[ASN][1000 genomes]
rs6853037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72707664	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7692862	0.86[CHB][hapmap];0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1015236	chr4:186696172-187004074	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1022661	chr4:186789827-187122464	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv537422	chr4:186789827-187122464	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr4:186785600-186794800	Enhancers	Fetal Heart	heart
2	chr4:186787800-186795400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr4:186788000-186792400	Weak transcription	Esophagus	oesophagus
4	chr4:186788000-186795400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:186789000-186795200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:186789000-186799600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:186790400-186792600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:186790600-186795400	Weak transcription	Osteobl	bone
9	chr4:186791000-186795400	Weak transcription	Hela-S3	cervix
10	chr4:186791000-186799600	Weak transcription	Left Ventricle	heart
11	chr4:186791000-186799800	Weak transcription	Pancreas	Pancrea
12	chr4:186791400-186794000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr4:186791600-186792600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr4:186791600-186792800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:186791600-186795800	Weak transcription	HSMMtube	muscle
16	chr4:186791800-186802600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr4:186792200-186792600	Weak transcription	Brain Anterior Caudate	brain

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