Variant report

Variant	rs386948
Chromosome Location	chr10:4696614-4696615
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:3827665..3830468-chr10:4693096..4697578,6	MCF-7	breast:
2	chr10:4691020..4693765-chr10:4695253..4697070,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10444199	0.89[JPT][hapmap]
rs167511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2123352	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2647337	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]
rs313450	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs313452	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs313454	0.96[ASN][1000 genomes]
rs313457	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs313490	0.84[ASN][1000 genomes]
rs313491	0.96[ASN][1000 genomes]
rs313494	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894787	chr10:4385379-4857717	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv1798456	chr10:4689138-4731081	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1817443	chr10:4689138-4731081	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1831014	chr10:4689138-4731081	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv1838419	chr10:4689138-4731081	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv1805926	chr10:4689842-4720626	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv1809203	chr10:4689842-4720626	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv1840346	chr10:4689842-4720626	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv1842933	chr10:4689842-4720626	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv1848476	chr10:4689842-4720626	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4680600-4703800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:4690000-4697200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr10:4693000-4703000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr10:4693000-4703600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:4693000-4703600	Weak transcription	Right Atrium	heart
6	chr10:4693200-4697200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr10:4693200-4697200	Weak transcription	Fetal Muscle Leg	muscle
8	chr10:4693200-4697200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr10:4693200-4697400	Weak transcription	Osteobl	bone
10	chr10:4693200-4697600	Weak transcription	Adipose Nuclei	Adipose
11	chr10:4693200-4699000	Weak transcription	HSMM	muscle
12	chr10:4693200-4702400	Weak transcription	Psoas Muscle	Psoas
13	chr10:4693200-4702400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr10:4693200-4703000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr10:4693200-4703000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr10:4693200-4703800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:4693200-4703800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr10:4693200-4703800	Weak transcription	Pancreas	Pancrea
19	chr10:4693400-4698400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr10:4694600-4703800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr10:4694800-4697200	Weak transcription	NHDF-Ad	bronchial
22	chr10:4694800-4697400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr10:4694800-4698800	Weak transcription	Dnd41	blood
24	chr10:4694800-4701600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr10:4694800-4704200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr10:4695000-4697600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr10:4695000-4699000	Weak transcription	Stomach Mucosa	stomach
28	chr10:4695000-4699000	Weak transcription	HMEC	breast
29	chr10:4695000-4699800	Weak transcription	NHEK	skin
30	chr10:4695200-4697200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr10:4695600-4698600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr10:4695600-4699400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr10:4695600-4700600	Weak transcription	Liver	Liver
34	chr10:4695800-4697000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr10:4695800-4697600	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr10:4696000-4697000	Weak transcription	HUVEC	blood vessel
37	chr10:4696200-4697000	Weak transcription	Fetal Kidney	kidney
38	chr10:4696400-4705200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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