Variant report

Variant	rs6485696
Chromosome Location	chr11:46842045-46842046
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46840513..46842114-chr11:46846709..46848551,2	K562	blood:
2	chr11:46839608..46842454-chr11:46847155..46850058,2	MCF-7	breast:
3	chr11:46839791..46842440-chr11:46844022..46846821,2	MCF-7	breast:
4	chr11:46830883..46837323-chr11:46838185..46842346,7	K562	blood:
5	chr11:46839503..46842068-chr11:46852399..46855233,2	K562	blood:

Variant related genes	Relation type
ENSG00000175216	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1007738	0.94[GIH][hapmap]
rs10734548	0.91[GIH][hapmap];0.80[MEX][hapmap]
rs10769205	0.82[CHB][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];0.83[TSI][hapmap]
rs10769211	0.94[GIH][hapmap];0.80[MEX][hapmap]
rs10838621	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10838622	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11039014	0.94[GIH][hapmap]
rs12361673	0.82[CHB][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];0.83[TSI][hapmap]
rs13448	0.92[GIH][hapmap]
rs1551744	0.94[GIH][hapmap];0.80[MEX][hapmap]
rs2070852	0.86[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.84[LWK][hapmap];0.88[MEX][hapmap];0.86[TSI][hapmap]
rs2306029	0.85[JPT][hapmap]
rs2306032	0.90[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4606447	0.92[GIH][hapmap];0.84[LWK][hapmap]
rs6485690	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6485702	0.81[ASW][hapmap];0.95[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7101374	0.94[GIH][hapmap]
rs7107778	0.91[GIH][hapmap];0.80[MEX][hapmap]
rs7118404	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7125807	0.83[CHD][hapmap];0.83[GIH][hapmap]
rs7929294	0.91[GIH][hapmap]
rs7932354	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs7940441	0.86[GIH][hapmap];0.84[MEX][hapmap]
rs964551	0.91[GIH][hapmap];0.80[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430382	chr11:46743135-46849360	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv3335996	chr11:46818751-46843532	Genic enhancers Enhancers Strong transcription Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46761400-46845200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:46762800-46842400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr11:46782600-46847400	Weak transcription	Stomach Mucosa	stomach
4	chr11:46812000-46847600	Weak transcription	Right Ventricle	heart
5	chr11:46814600-46845800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:46815200-46847800	Weak transcription	Gastric	stomach
7	chr11:46816400-46847800	Weak transcription	Spleen	Spleen
8	chr11:46818800-46846800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:46819000-46847400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr11:46819200-46847600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr11:46819600-46847600	Weak transcription	Brain Angular Gyrus	brain
12	chr11:46819600-46847800	Weak transcription	Pancreas	Pancrea
13	chr11:46819800-46847400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:46820800-46847600	Weak transcription	Small Intestine	intestine
15	chr11:46821600-46847600	Weak transcription	Psoas Muscle	Psoas
16	chr11:46824200-46847600	Weak transcription	Right Atrium	heart
17	chr11:46828600-46843200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:46828800-46847800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr11:46830400-46847400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr11:46831200-46847600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr11:46831400-46847400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:46831400-46847800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr11:46831800-46846800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr11:46831800-46846800	Weak transcription	Colon Smooth Muscle	Colon
25	chr11:46832000-46847000	Weak transcription	Brain Anterior Caudate	brain
26	chr11:46832000-46848000	Weak transcription	Lung	lung
27	chr11:46832200-46847600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:46832400-46847000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr11:46833800-46842400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:46834600-46847600	Weak transcription	Fetal Intestine Small	intestine
31	chr11:46835400-46847600	Weak transcription	Fetal Intestine Large	intestine
32	chr11:46836000-46843000	Strong transcription	K562	blood
33	chr11:46836400-46847600	Weak transcription	Brain Substantia Nigra	brain
34	chr11:46837600-46843200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:46837600-46847000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:46837600-46847600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:46837600-46847800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr11:46837800-46843200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:46837800-46847000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr11:46837800-46847400	Weak transcription	Thymus	Thymus
41	chr11:46837800-46847600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:46837800-46847600	Weak transcription	Aorta	Aorta
43	chr11:46837800-46847800	Weak transcription	Esophagus	oesophagus
44	chr11:46837800-46847800	Weak transcription	Fetal Kidney	kidney
45	chr11:46838000-46845200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr11:46838000-46845800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr11:46838000-46847000	Weak transcription	NHLF	lung
48	chr11:46838000-46847400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr11:46838000-46847400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr11:46838000-46847400	Weak transcription	NH-A	brain

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