Variant report

Variant	rs710088
Chromosome Location	chr6:106635443-106635444
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	chr6:106609627..106612260-chr6:106633159..106635604,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12110796	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12664702	0.87[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2299861	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2791119	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs478310	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs501804	0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs511472	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs520296	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs538557	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57050291	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59800435	0.83[EUR][1000 genomes]
rs600076	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs605457	0.94[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs627484	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs632686	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs656994	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs672070	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs676090	1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs676640	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs710089	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs710090	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs710091	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9372119	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9373838	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9373840	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9386521	0.80[ASN][1000 genomes]
rs9398076	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9398077	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription 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 target site	41 gene(s)	inside rSNPs	diseases
2	nsv1025900	chr6:106529777-106898421	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1018270	chr6:106531658-106908606	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv538399	chr6:106531658-106908606	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv1832544	chr6:106539914-106642993	Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1035110	chr6:106557281-106802212	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv538400	chr6:106557281-106802212	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv1022855	chr6:106570926-106802072	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv538401	chr6:106570926-106802072	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv1019265	chr6:106587627-106727591	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv538402	chr6:106587627-106727591	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
13	nsv1025963	chr6:106593639-106848778	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
14	nsv1020047	chr6:106597828-106912047	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
15	nsv970664	chr6:106635267-106887670	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106612400-106662000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:106616400-106654200	Weak transcription	Aorta	Aorta
3	chr6:106625600-106638400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr6:106625600-106642000	Weak transcription	Small Intestine	intestine
5	chr6:106625800-106648400	Weak transcription	Fetal Muscle Leg	muscle
6	chr6:106625800-106651800	Weak transcription	Esophagus	oesophagus
7	chr6:106625800-106652800	Weak transcription	Brain Germinal Matrix	brain
8	chr6:106626000-106637600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:106626600-106645000	Weak transcription	Fetal Heart	heart
10	chr6:106626800-106674800	Weak transcription	K562	blood
11	chr6:106627200-106643600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:106628000-106659200	Weak transcription	HepG2	liver
13	chr6:106628400-106642000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:106628400-106675200	Weak transcription	Stomach Mucosa	stomach
15	chr6:106628600-106647800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr6:106628800-106648000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr6:106628800-106671200	Weak transcription	Fetal Intestine Small	intestine
18	chr6:106629800-106648000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr6:106629800-106652000	Weak transcription	Placenta	Placenta
20	chr6:106630000-106654600	Weak transcription	Hela-S3	cervix
21	chr6:106630200-106645000	Weak transcription	Colon Smooth Muscle	Colon
22	chr6:106630600-106635600	Weak transcription	NHLF	lung
23	chr6:106630600-106640600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:106630600-106640600	Weak transcription	HMEC	breast
25	chr6:106630600-106647800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr6:106630600-106654200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:106630800-106642000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:106630800-106651200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr6:106631000-106637200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr6:106631000-106644200	Weak transcription	Left Ventricle	heart
31	chr6:106631400-106652600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:106631800-106642600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr6:106631800-106642800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr6:106632000-106635600	Weak transcription	Brain Anterior Caudate	brain
35	chr6:106632000-106664600	Weak transcription	Psoas Muscle	Psoas
36	chr6:106632200-106659400	Weak transcription	Right Ventricle	heart
37	chr6:106632400-106647600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:106632400-106649600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr6:106632600-106638200	Weak transcription	Brain Angular Gyrus	brain
40	chr6:106632600-106646800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr6:106632800-106642800	Weak transcription	Fetal Kidney	kidney
42	chr6:106632800-106643400	Weak transcription	Fetal Thymus	thymus
43	chr6:106632800-106647800	Weak transcription	Ovary	ovary
44	chr6:106632800-106650400	Weak transcription	Fetal Stomach	stomach
45	chr6:106633000-106640600	Weak transcription	NHDF-Ad	bronchial
46	chr6:106633000-106650200	Weak transcription	Gastric	stomach
47	chr6:106633400-106635600	Strong transcription	Primary B cells from cord blood	blood
48	chr6:106633400-106650600	Weak transcription	Brain Substantia Nigra	brain
49	chr6:106633400-106662000	Weak transcription	Fetal Lung	lung
50	chr6:106633600-106636800	Enhancers	Primary T helper cells fromperipheralblood	blood

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