Variant report

Variant	rs12284337
Chromosome Location	chr11:67345459-67345460
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:67344270..67346942-chr11:67379351..67381800,2	MCF-7	breast:
2	chr11:67307923..67310034-chr11:67344749..67347317,2	K562	blood:
3	chr11:67343427..67347334-chr11:67376017..67380328,4	K562	blood:
4	chr11:67344360..67352769-chr11:67395394..67400721,12	K562	blood:
5	chr11:67345086..67348074-chr11:67348502..67351412,2	K562	blood:

Variant related genes	Relation type
ENSG00000167799	Chromatin interaction
ENSG00000244152	Chromatin interaction
ENSG00000167792	Chromatin interaction
ENSG00000231793	Chromatin interaction
ENSG00000084207	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10082595	0.81[YRI][hapmap]
rs10896187	0.82[YRI][hapmap]
rs11227847	0.82[YRI][hapmap]
rs11227853	0.82[YRI][hapmap]
rs11227856	0.81[YRI][hapmap]
rs11227859	0.81[YRI][hapmap]
rs11227870	0.81[YRI][hapmap]
rs12270939	0.81[AFR][1000 genomes]
rs12271238	0.81[AFR][1000 genomes]
rs12283777	0.82[YRI][hapmap]
rs12285294	0.88[YRI][hapmap]
rs12285568	0.81[YRI][hapmap]
rs12293712	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293788	0.82[YRI][hapmap]
rs12295232	0.81[YRI][hapmap]
rs12417968	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2066494	1.00[CHB][hapmap]
rs28856416	0.86[YRI][hapmap]
rs4616043	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4930203	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4930205	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930209	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4930432	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs4930435	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4930437	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930445	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930448	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6591248	0.83[AFR][1000 genomes]
rs7102855	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8191431	0.88[YRI][hapmap];0.81[AFR][1000 genomes]
rs8191438	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8191439	1.00[CHB][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8191448	0.81[AFR][1000 genomes]
rs887316	1.00[CHB][hapmap]
rs887318	1.00[CHB][hapmap]
rs9651716	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
4	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
5	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
6	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
7	esv2422195	chr11:67234322-67626901	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
8	nsv1041988	chr11:67319916-67749246	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
9	nsv897814	chr11:67339949-67460529	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv1050463	chr11:67343421-67717338	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
11	nsv1038189	chr11:67345320-67749246	Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
12	nsv1047236	chr11:67345320-67764068	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 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	chr11:67340600-67346800	Weak transcription	Pancreas	Pancrea
2	chr11:67340800-67346600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr11:67341200-67345600	Weak transcription	HepG2	liver
4	chr11:67341400-67346000	Weak transcription	Fetal Intestine Large	intestine
5	chr11:67341400-67346600	Weak transcription	A549	lung
6	chr11:67342600-67345600	Weak transcription	Fetal Intestine Small	intestine
7	chr11:67342600-67347000	Weak transcription	Hela-S3	cervix
8	chr11:67343800-67346600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:67344400-67346000	Enhancers	Placenta	Placenta
10	chr11:67344400-67350600	Enhancers	Stomach Mucosa	stomach
11	chr11:67344800-67345600	Enhancers	Fetal Heart	heart
12	chr11:67344800-67346200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:67345000-67346000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:67345000-67346800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr11:67345000-67346800	Weak transcription	Spleen	Spleen
16	chr11:67345000-67348400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:67345200-67346000	Enhancers	Gastric	stomach
18	chr11:67345200-67346600	Weak transcription	K562	blood
19	chr11:67345200-67347200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:67345400-67346600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:67345400-67347400	Enhancers	Primary hematopoietic stem cells	blood

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