Variant report

Variant	rs4691177
Chromosome Location	chr4:166125436-166125437
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr4:166125434-166126159	MCF10A-Er-Src	breast:	n/a	chr4:166125807-166125814
2	FOS	chr4:166125366-166125971	MCF10A-Er-Src	breast:	n/a	chr4:166125771-166125781 chr4:166125770-166125782 chr4:166125772-166125780 chr4:166125770-166125781

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:166114045..166117632-chr4:166124756..166128607,4	K562	blood:
2	chr4:166114759..166116700-chr4:166124853..166126490,2	MCF-7	breast:

Variant related genes	Relation type
KLHL2	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10018252	0.81[ASN][1000 genomes]
rs10032366	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11724462	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11724504	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11732483	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11735290	1.00[ASW][hapmap];0.88[CEU][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11735317	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11939254	0.88[EUR][1000 genomes]
rs12332076	0.81[ASN][1000 genomes]
rs17585306	0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17585333	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs28495910	0.83[EUR][1000 genomes]
rs28635044	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4605609	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4691171	0.87[EUR][1000 genomes]
rs4691172	0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes]
rs4691173	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4691176	1.00[ASN][1000 genomes]
rs58004273	0.92[EUR][1000 genomes]
rs6834975	0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes]
rs6835694	0.87[EUR][1000 genomes]
rs6846518	0.81[ASN][1000 genomes]
rs72993957	1.00[ASN][1000 genomes]
rs7686032	0.81[ASN][1000 genomes]
rs9968334	0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes]
rs9993501	1.00[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv1021905	chr4:165852926-166212878	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active 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 miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv533191	chr4:165879671-166171638	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv881168	chr4:165975122-166196438	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166115400-166127400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr4:166119800-166127400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:166121000-166127800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:166122600-166126600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:166124600-166126800	Enhancers	NHEK	skin
6	chr4:166124800-166125800	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr4:166124800-166126400	Enhancers	HMEC	breast
8	chr4:166124800-166126600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr4:166124800-166126800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:166124800-166127800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr4:166125000-166125800	Enhancers	Primary B cells from peripheral blood	blood
12	chr4:166125000-166126200	Enhancers	HepG2	liver
13	chr4:166125000-166126200	Enhancers	NHLF	lung
14	chr4:166125000-166126400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:166125000-166126400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:166125000-166126400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr4:166125000-166126400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:166125000-166126400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr4:166125000-166126600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr4:166125000-166126600	Enhancers	Hela-S3	cervix
21	chr4:166125000-166126800	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr4:166125200-166125600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr4:166125200-166125600	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr4:166125200-166125800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:166125200-166126000	Enhancers	A549	lung
26	chr4:166125200-166126000	Enhancers	NHDF-Ad	bronchial
27	chr4:166125200-166126200	Enhancers	Primary hematopoietic stem cells	blood
28	chr4:166125200-166126200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:166125200-166126200	Enhancers	NH-A	brain
30	chr4:166125200-166126400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr4:166125200-166127600	Weak transcription	Brain Angular Gyrus	brain
32	chr4:166125200-166127600	Weak transcription	Spleen	Spleen
33	chr4:166125400-166125600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr4:166125400-166125800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr4:166125400-166125800	Enhancers	GM12878-XiMat	blood
36	chr4:166125400-166126000	Enhancers	Stomach Mucosa	stomach
37	chr4:166125400-166126200	Enhancers	Brain Anterior Caudate	brain
38	chr4:166125400-166126200	Enhancers	HUVEC	blood vessel
39	chr4:166125400-166126200	Enhancers	Osteobl	bone
40	chr4:166125400-166126400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr4:166125400-166126400	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr4:166125400-166126600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr4:166125400-166127600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr4:166125400-166127600	Enhancers	Liver	Liver
45	chr4:166125400-166127600	Weak transcription	Pancreas	Pancrea
46	chr4:166125400-166127800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:166125400-166127800	Weak transcription	Gastric	stomach

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