Variant report

Variant	rs2067478
Chromosome Location	chr11:62677529-62677530
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:62676072..62679546-chr11:62682200..62691147,12	MCF-7	breast:
2	chr11:62672188..62674479-chr11:62677230..62679407,2	K562	blood:
3	chr11:62607202..62610335-chr11:62674353..62678655,4	MCF-7	breast:
4	chr11:62670875..62680186-chr11:62684644..62693105,18	MCF-7	breast:
5	chr11:62676868..62678984-chr11:62684048..62686378,3	K562	blood:
6	chr11:62607943..62609722-chr11:62677420..62679620,2	K562	blood:

Variant related genes	Relation type
ENSG00000133316	Chromatin interaction
ENSG00000168539	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11568621	1.00[JPT][hapmap]
rs11568628	1.00[JPT][hapmap]
rs11568629	1.00[JPT][hapmap]
rs11823728	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MKK][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]
rs530752	0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv1041770	chr11:62610353-62871767	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	263 gene(s)	inside rSNPs	diseases
4	esv34011	chr11:62652779-62993702	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer 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	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62672800-62686200	Weak transcription	Fetal Brain Female	brain
2	chr11:62673600-62679000	Weak transcription	K562	blood
3	chr11:62675600-62678800	Enhancers	Lung	lung
4	chr11:62675800-62677600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr11:62675800-62677600	Enhancers	Brain Hippocampus Middle	brain
6	chr11:62675800-62678000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr11:62675800-62678600	Enhancers	Pancreas	Pancrea
8	chr11:62676000-62677600	Enhancers	Adipose Nuclei	Adipose
9	chr11:62676000-62677600	Enhancers	Colonic Mucosa	Colon
10	chr11:62676000-62677600	Enhancers	Right Atrium	heart
11	chr11:62676000-62677600	Enhancers	Spleen	Spleen
12	chr11:62676000-62677800	Enhancers	Brain Angular Gyrus	brain
13	chr11:62676000-62679000	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr11:62676200-62677600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr11:62676200-62677600	Enhancers	Brain Anterior Caudate	brain
16	chr11:62676200-62678200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:62676200-62678600	Enhancers	Placenta	Placenta
18	chr11:62676400-62677600	Enhancers	Brain Substantia Nigra	brain
19	chr11:62676400-62677600	Enhancers	Duodenum Mucosa	Duodenum
20	chr11:62676800-62685600	Weak transcription	Fetal Brain Male	brain
21	chr11:62677000-62677600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr11:62677000-62678400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:62677000-62678600	Weak transcription	Fetal Thymus	thymus
24	chr11:62677200-62677600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:62677200-62677600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
26	chr11:62677200-62677600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr11:62677200-62677600	Strong transcription	Brain Germinal Matrix	brain
28	chr11:62677200-62678200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr11:62677200-62678400	Enhancers	Brain Cingulate Gyrus	brain
30	chr11:62677200-62680200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr11:62677400-62677600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:62677400-62677600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr11:62677400-62677600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr11:62677400-62677600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr11:62677400-62677600	Flanking Active TSS	Gastric	stomach
36	chr11:62677400-62677800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr11:62677400-62678000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:62677400-62678400	Enhancers	H1 Cell Line	embryonic stem cell
39	chr11:62677400-62678600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:62677400-62678600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:62677400-62678600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr11:62677400-62679200	Weak transcription	Fetal Stomach	stomach
43	chr11:62677400-62680000	Weak transcription	Fetal Intestine Large	intestine
44	chr11:62677400-62680400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:62677400-62687200	Weak transcription	Fetal Intestine Small	intestine

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