Variant report

Variant	rs4869305
Chromosome Location	chr5:95992367-95992368
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95985441..95987708-chr5:95989589..95992814,3	K562	blood:
2	chr5:95991448..95995486-chr5:95995938..96001045,12	MCF-7	breast:
3	chr5:95977234..95979503-chr5:95992093..95994116,2	MCF-7	breast:
4	chr5:95973246..95975490-chr5:95991311..95993586,2	K562	blood:
5	chr5:95968426..95970415-chr5:95992191..95994146,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153113	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11738135	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12188168	1.00[ASN][1000 genomes]
rs17082200	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17086588	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs2112277	1.00[ASN][1000 genomes]
rs56116814	1.00[ASN][1000 genomes]
rs56257788	1.00[ASN][1000 genomes]
rs6879175	1.00[ASN][1000 genomes]
rs73774355	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1024964	chr5:95742124-96065492	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv537811	chr5:95742124-96065492	Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1015173	chr5:95987366-96153392	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95983200-95994200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:95988400-95994600	Enhancers	NHEK	skin
3	chr5:95989000-95996200	Weak transcription	Fetal Lung	lung
4	chr5:95989200-95996400	Weak transcription	Placenta	Placenta
5	chr5:95989600-95993000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr5:95990000-95996400	Enhancers	Hela-S3	cervix
7	chr5:95990200-95993400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:95990200-95994400	Enhancers	HSMM	muscle
9	chr5:95990400-95994400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:95990400-95994600	Enhancers	NHDF-Ad	bronchial
11	chr5:95990600-95992600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr5:95990600-95995000	Enhancers	HMEC	breast
13	chr5:95990600-95996600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr5:95990800-95992800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:95990800-95993200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:95990800-95993600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:95990800-95993600	Enhancers	HUVEC	blood vessel
18	chr5:95990800-95994000	Enhancers	NHLF	lung
19	chr5:95990800-95994200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr5:95990800-95994200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:95990800-95994200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:95990800-95994200	Enhancers	NH-A	brain
23	chr5:95990800-95994200	Enhancers	Osteobl	bone
24	chr5:95991000-95992600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:95991000-95994600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:95991200-95992800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:95991200-95994200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:95991400-95993200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr5:95991600-95992400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:95991600-95996600	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr5:95991800-95992800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr5:95991800-95993000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr5:95991800-95993200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:95992000-95992400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr5:95992000-95992400	Enhancers	Esophagus	oesophagus
36	chr5:95992000-95992400	Enhancers	Pancreas	Pancrea
37	chr5:95992000-95992400	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr5:95992000-95992400	Enhancers	Small Intestine	intestine
39	chr5:95992000-95992600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:95992000-95992600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr5:95992000-95992600	Enhancers	Colonic Mucosa	Colon
42	chr5:95992000-95992800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr5:95992000-95992800	Enhancers	Primary T cells fromperipheralblood	blood
44	chr5:95992000-95992800	Enhancers	Stomach Mucosa	stomach
45	chr5:95992000-95993200	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr5:95992000-95993200	Enhancers	Fetal Intestine Large	intestine
47	chr5:95992000-95993200	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr5:95992000-95993200	Flanking Active TSS	A549	lung
49	chr5:95992000-95993400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr5:95992000-95993400	Enhancers	Fetal Intestine Small	intestine

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