Variant report

Variant	rs4735633
Chromosome Location	chr8:100708595-100708596
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:100708369..100711314-chr8:100713303..100715085,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10504992	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs1449786	0.89[ASN][1000 genomes]
rs16892266	0.84[YRI][hapmap]
rs16897410	1.00[CHB][hapmap];0.84[CHD][hapmap]
rs16897424	0.92[YRI][hapmap]
rs16897438	0.92[YRI][hapmap]
rs16897439	1.00[CHB][hapmap];0.84[CHD][hapmap]
rs16897573	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16897581	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897621	0.84[YRI][hapmap]
rs16897708	1.00[CHB][hapmap]
rs16897713	1.00[CHB][hapmap]
rs16897718	0.84[YRI][hapmap]
rs16897726	0.89[ASW][hapmap];0.90[CHB][hapmap];0.84[CHD][hapmap];0.82[LWK][hapmap];0.84[YRI][hapmap]
rs16897728	1.00[CHB][hapmap];0.84[CHD][hapmap]
rs1979115	1.00[CHB][hapmap];0.84[YRI][hapmap]
rs1979116	0.84[YRI][hapmap]
rs1979117	1.00[CHB][hapmap];0.84[CHD][hapmap]
rs2067529	1.00[CHB][hapmap];0.84[CHD][hapmap]
rs2084554	0.92[ASN][1000 genomes]
rs2084555	0.80[AFR][1000 genomes]
rs2100220	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4734435	0.92[ASN][1000 genomes]
rs4734436	0.89[ASN][1000 genomes]
rs4734437	1.00[CHB][hapmap];0.84[YRI][hapmap]
rs4735632	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4735634	0.92[ASN][1000 genomes]
rs4735635	0.92[ASN][1000 genomes]
rs4735636	0.81[ASN][1000 genomes]
rs4735639	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4735646	1.00[CHB][hapmap]
rs61753724	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7832916	1.00[CHB][hapmap];0.84[CHD][hapmap]
rs7833256	1.00[CHB][hapmap];0.84[CHD][hapmap]
rs7833870	1.00[CHB][hapmap];0.84[CHD][hapmap]
rs896008	0.84[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv524617	chr8:100032844-100717925	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1022914	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv539695	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv891226	chr8:100295634-100708595	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv891227	chr8:100295634-100743556	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1019256	chr8:100336249-100852803	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
7	nsv539698	chr8:100336249-100852803	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
8	esv2758167	chr8:100404151-100838624	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
9	esv2759633	chr8:100404151-100838624	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1029616	chr8:100442135-100796643	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv831408	chr8:100523523-100721507	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
12	nsv523290	chr8:100708595-100717925	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100687000-100739800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:100688800-100711400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr8:100688800-100716000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr8:100692000-100711800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:100695200-100709800	Weak transcription	Pancreas	Pancrea
6	chr8:100698000-100716000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:100698200-100714600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:100698400-100709800	Weak transcription	Right Ventricle	heart
9	chr8:100698400-100711000	Weak transcription	HMEC	breast
10	chr8:100698400-100711400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr8:100698400-100714600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:100698600-100711400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:100698600-100711800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:100699000-100718000	Weak transcription	K562	blood
15	chr8:100699400-100711800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr8:100699400-100712000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:100699400-100712400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr8:100699400-100714400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:100699600-100714600	Weak transcription	Ovary	ovary
20	chr8:100699800-100731600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:100699800-100733200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr8:100700000-100712600	Weak transcription	Gastric	stomach
23	chr8:100700000-100714600	Weak transcription	Aorta	Aorta
24	chr8:100700000-100714800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr8:100700000-100716000	Weak transcription	Adipose Nuclei	Adipose
26	chr8:100700400-100733800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr8:100700800-100711200	Weak transcription	Primary T cells from cord blood	blood
28	chr8:100703600-100711800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr8:100703800-100712600	Weak transcription	Fetal Muscle Leg	muscle
30	chr8:100707600-100712000	Weak transcription	Colon Smooth Muscle	Colon
31	chr8:100707600-100712600	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr8:100707600-100732400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr8:100708200-100708600	Strong transcription	Primary B cells from cord blood	blood
34	chr8:100708200-100708800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:100708200-100709000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:100708200-100709200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr8:100708200-100709400	ZNF genes & repeats	Fetal Intestine Small	intestine
38	chr8:100708200-100709600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:100708200-100709600	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr8:100708200-100709600	Strong transcription	HSMMtube	muscle
41	chr8:100708200-100709800	ZNF genes & repeats	Fetal Stomach	stomach
42	chr8:100708200-100710000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:100708400-100708800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:100708400-100725600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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