Variant report

Variant	rs643243
Chromosome Location	chr11:63883169-63883170
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63751447..63755451-chr11:63882751..63885607,3	MCF-7	breast:
2	chr11:63882915..63884582-chr11:63898261..63900223,2	MCF-7	breast:
3	chr11:63871768..63873889-chr11:63882360..63884841,2	K562	blood:

Variant related genes	Relation type
ENSG00000167770	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11602181	0.85[YRI][hapmap]
rs598436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs614035	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs634854	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs647833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs663149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs663889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs677447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs683686	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs693984	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];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
3	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
4	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
5	nsv832184	chr11:63787702-63925084	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
7	nsv897658	chr11:63810944-63897759	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv897659	chr11:63813470-63907079	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv832185	chr11:63819946-63963532	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases
10	nsv469961	chr11:63822940-64085967	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
11	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
12	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
13	nsv356	chr11:63868847-63913129	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	esv3431264	chr11:63880076-63883474	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3357156	chr11:63880926-63883724	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63866400-63887800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:63870000-63884400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:63871200-63884200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:63872800-63883600	Weak transcription	Pancreas	Pancrea
5	chr11:63873400-63886800	Weak transcription	Colonic Mucosa	Colon
6	chr11:63873800-63884200	Weak transcription	Brain Anterior Caudate	brain
7	chr11:63874000-63884200	Weak transcription	Brain Angular Gyrus	brain
8	chr11:63874200-63883400	Weak transcription	Brain Hippocampus Middle	brain
9	chr11:63874200-63883800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:63874200-63883800	Weak transcription	Brain Substantia Nigra	brain
11	chr11:63875400-63896200	Weak transcription	Spleen	Spleen
12	chr11:63875600-63886800	Weak transcription	HSMMtube	muscle
13	chr11:63876200-63884200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:63877400-63883800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:63879200-63888400	Weak transcription	Left Ventricle	heart
16	chr11:63879400-63884400	Weak transcription	Right Ventricle	heart
17	chr11:63879600-63885800	Weak transcription	HepG2	liver
18	chr11:63879600-63886200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:63879600-63890200	Weak transcription	Liver	Liver
20	chr11:63879800-63891600	Weak transcription	Primary T cells from cord blood	blood
21	chr11:63880600-63884200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:63881200-63888000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:63881400-63883400	Weak transcription	Hela-S3	cervix
24	chr11:63881800-63891800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:63882200-63883600	Enhancers	Brain Germinal Matrix	brain
26	chr11:63882200-63884000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr11:63882200-63884200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr11:63882200-63884400	Weak transcription	Gastric	stomach
29	chr11:63882200-63889400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr11:63882200-63889600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:63882200-63889600	Weak transcription	Lung	lung
32	chr11:63882200-63892800	Weak transcription	Fetal Kidney	kidney
33	chr11:63882400-63883600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:63882400-63883600	Enhancers	Fetal Brain Female	brain
35	chr11:63882400-63883800	Enhancers	Fetal Brain Male	brain
36	chr11:63882400-63885000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:63882400-63885200	Weak transcription	Aorta	Aorta
38	chr11:63882800-63883200	Enhancers	Fetal Intestine Small	intestine
39	chr11:63882800-63883600	Enhancers	Colon Smooth Muscle	Colon
40	chr11:63882800-63883600	Enhancers	Rectal Smooth Muscle	rectum
41	chr11:63882800-63883800	Enhancers	Fetal Heart	heart
42	chr11:63882800-63888000	Strong transcription	Fetal Stomach	stomach
43	chr11:63883000-63883200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:63883000-63883200	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr11:63883000-63883200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:63883000-63883200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr11:63883000-63883400	Genic enhancers	Stomach Smooth Muscle	stomach
48	chr11:63883000-63883600	Enhancers	Duodenum Mucosa	Duodenum
49	chr11:63883000-63883600	Enhancers	Fetal Intestine Large	intestine
50	chr11:63883000-63883600	Genic enhancers	Fetal Muscle Leg	muscle

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