Variant report

Variant	rs462422
Chromosome Location	chr4:187598929-187598930
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:187598530..187601014-chr4:187604805..187607221,2	MCF-7	breast:
2	chr4:187589219..187591473-chr4:187596376..187599328,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10025804	0.91[CEU][hapmap];0.85[YRI][hapmap]
rs327076	0.85[CEU][hapmap]
rs327080	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs327081	0.91[CEU][hapmap];0.80[YRI][hapmap]
rs327082	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs370357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs381436	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	nsv1025088	chr4:187407683-187674585	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1025244	chr4:187419770-188284813	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1034212	chr4:187437895-188030805	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv537438	chr4:187437895-188030805	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv532745	chr4:187471692-188205443	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv1022262	chr4:187475862-187848284	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1024705	chr4:187534005-187849091	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1026970	chr4:187537418-187913351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv596440	chr4:187538133-187848075	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv881509	chr4:187574398-187614434	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187573000-187605400	Weak transcription	Gastric	stomach
2	chr4:187583000-187614400	Weak transcription	Colonic Mucosa	Colon
3	chr4:187587600-187610200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr4:187588400-187604400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:187591200-187604000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:187591200-187607000	Weak transcription	Adipose Nuclei	Adipose
7	chr4:187591200-187614400	Weak transcription	Ovary	ovary
8	chr4:187591400-187603800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:187591400-187604400	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:187592200-187604000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr4:187592200-187605400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr4:187594000-187605800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr4:187594200-187603800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr4:187595000-187599000	Enhancers	Colon Smooth Muscle	Colon
15	chr4:187595200-187599400	Enhancers	Rectal Smooth Muscle	rectum
16	chr4:187595800-187603800	Weak transcription	Left Ventricle	heart
17	chr4:187596000-187599000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:187596000-187603800	Weak transcription	Fetal Intestine Large	intestine
19	chr4:187596000-187604000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:187596400-187599000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:187596800-187599200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:187596800-187599200	Enhancers	Fetal Heart	heart
23	chr4:187596800-187602800	Weak transcription	Fetal Intestine Small	intestine
24	chr4:187597000-187599000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr4:187597000-187599000	Enhancers	NH-A	brain
26	chr4:187597000-187599000	Enhancers	NHDF-Ad	bronchial
27	chr4:187597000-187599200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:187597000-187599200	Enhancers	Fetal Kidney	kidney
29	chr4:187597000-187599400	Enhancers	Osteobl	bone
30	chr4:187597000-187603200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:187597000-187603800	Weak transcription	Pancreas	Pancrea
32	chr4:187597200-187599000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr4:187597200-187599400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:187597600-187599200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr4:187597600-187599200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr4:187597800-187599000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr4:187597800-187599000	Flanking Active TSS	A549	lung
38	chr4:187597800-187599000	Enhancers	HepG2	liver
39	chr4:187597800-187599400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr4:187597800-187600000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr4:187598000-187599000	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr4:187598200-187599000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:187598200-187599000	Enhancers	NHEK	skin
44	chr4:187598200-187599200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:187598200-187599400	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr4:187598200-187599600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:187598200-187603800	Weak transcription	Fetal Stomach	stomach
48	chr4:187598200-187604000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:187598200-187604000	Weak transcription	Right Atrium	heart
50	chr4:187598200-187604000	Weak transcription	Right Ventricle	heart

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