Variant report

Variant	rs6471895
Chromosome Location	chr8:61624949-61624950
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	chr8:61619832..61624344-chr8:61624507..61628732,6	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10098584	1.00[ASN][1000 genomes]
rs10101023	1.00[ASN][1000 genomes]
rs13256570	1.00[TSI][hapmap]
rs13261519	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13269361	1.00[ASW][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13275837	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs13438807	1.00[ASN][1000 genomes]
rs16926379	1.00[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926398	1.00[CEU][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926440	1.00[ASN][1000 genomes]
rs16926444	1.00[ASN][1000 genomes]
rs16926456	1.00[ASN][1000 genomes]
rs16926466	0.87[GIH][hapmap]
rs16926528	1.00[ASN][1000 genomes]
rs28539174	1.00[ASN][1000 genomes]
rs28539276	1.00[ASN][1000 genomes]
rs28667506	1.00[ASN][1000 genomes]
rs34301717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34833917	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35777815	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41272442	1.00[ASN][1000 genomes]
rs62524942	1.00[ASN][1000 genomes]
rs62524943	1.00[ASN][1000 genomes]
rs62524944	1.00[ASN][1000 genomes]
rs62524946	1.00[ASN][1000 genomes]
rs62524950	1.00[ASN][1000 genomes]
rs62524951	1.00[ASN][1000 genomes]
rs62524954	1.00[ASN][1000 genomes]
rs62524956	1.00[ASN][1000 genomes]
rs62524957	1.00[ASN][1000 genomes]
rs62526484	1.00[ASN][1000 genomes]
rs62526485	1.00[ASN][1000 genomes]
rs62526486	1.00[ASN][1000 genomes]
rs62526528	1.00[ASN][1000 genomes]
rs6986750	1.00[CEU][hapmap]
rs6988200	0.83[ASW][hapmap];1.00[CEU][hapmap];0.82[LWK][hapmap]
rs7013969	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs730084	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv824657	chr8:61555227-61626758	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv6219	chr8:61599770-61644558	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv1022801	chr8:61623974-61738067	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv539632	chr8:61623974-61738067	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61603400-61626200	Weak transcription	Fetal Thymus	thymus
2	chr8:61607400-61627000	Weak transcription	Spleen	Spleen
3	chr8:61615600-61644400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:61616200-61626000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr8:61621200-61646400	Weak transcription	Fetal Brain Male	brain
6	chr8:61621400-61626200	Weak transcription	Fetal Stomach	stomach
7	chr8:61621400-61627200	Weak transcription	Stomach Mucosa	stomach
8	chr8:61621400-61632200	Weak transcription	HepG2	liver
9	chr8:61621600-61626000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:61621600-61626200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr8:61621600-61626200	Weak transcription	Adipose Nuclei	Adipose
12	chr8:61621600-61626200	Weak transcription	Liver	Liver
13	chr8:61621600-61626200	Weak transcription	Fetal Intestine Small	intestine
14	chr8:61621600-61626200	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:61621600-61626200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr8:61621600-61626400	Weak transcription	Aorta	Aorta
17	chr8:61621600-61626600	Weak transcription	Lung	lung
18	chr8:61621600-61626600	Weak transcription	Pancreas	Pancrea
19	chr8:61621600-61627200	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr8:61621600-61628000	Weak transcription	K562	blood
21	chr8:61621600-61628200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:61621600-61628400	Weak transcription	Brain Angular Gyrus	brain
23	chr8:61621600-61634200	Weak transcription	Primary T cells from cord blood	blood
24	chr8:61621600-61636400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr8:61621800-61626000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr8:61621800-61626000	Weak transcription	Colon Smooth Muscle	Colon
27	chr8:61621800-61626200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr8:61621800-61626200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:61621800-61626200	Weak transcription	Brain Germinal Matrix	brain
30	chr8:61621800-61628000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:61621800-61628400	Weak transcription	HSMMtube	muscle
32	chr8:61621800-61638200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr8:61622000-61626000	Weak transcription	Fetal Lung	lung
34	chr8:61622000-61626000	Weak transcription	NH-A	brain
35	chr8:61622000-61626000	Weak transcription	Osteobl	bone
36	chr8:61622000-61626200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:61622000-61626200	Weak transcription	Fetal Intestine Large	intestine
38	chr8:61622000-61626200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr8:61622000-61626200	Weak transcription	HMEC	breast
40	chr8:61622000-61626200	Weak transcription	NHEK	skin
41	chr8:61622000-61626200	Weak transcription	NHLF	lung
42	chr8:61622000-61627000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr8:61622000-61627200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr8:61622000-61628200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:61622000-61628800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr8:61622200-61631400	Weak transcription	Primary B cells from cord blood	blood
47	chr8:61623000-61626200	Weak transcription	Brain Anterior Caudate	brain
48	chr8:61623000-61626200	Weak transcription	Esophagus	oesophagus
49	chr8:61623000-61626200	Weak transcription	Fetal Kidney	kidney
50	chr8:61623000-61627000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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