Variant report

Variant	rs7948832
Chromosome Location	chr11:64620781-64620782
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64618024..64620954-chr11:65196228..65198259,2	K562	blood:
2	chr11:64618484..64621350-chr11:64623453..64626409,4	K562	blood:
3	chr11:64570564..64573081-chr11:64619904..64621678,2	MCF-7	breast:
4	11:64620201-64626490..11:64658316-64660295	Hela-S3	cervix:
5	chr11:64619768..64622619-chr11:64888146..64890410,3	MCF-7	breast:
6	chr11:64618513..64621214-chr11:64779956..64782897,2	MCF-7	breast:
7	chr11:64619267..64622178-chr11:64697494..64699011,2	K562	blood:
8	chr11:64618737..64620906-chr11:64828320..64829990,2	K562	blood:
9	chr11:64619599..64622542-chr11:64683982..64685548,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267804	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000149792	Chromatin interaction
ENSG00000207648	Chromatin interaction
ENSG00000110046	Chromatin interaction
ENSG00000229719	Chromatin interaction
ENSG00000149806	Chromatin interaction
ENSG00000168067	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10466694	1.00[EUR][1000 genomes]
rs11231865	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11231866	1.00[EUR][1000 genomes]
rs11821081	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1212539	1.00[EUR][1000 genomes]
rs1212851	1.00[EUR][1000 genomes]
rs12273948	1.00[EUR][1000 genomes]
rs12280878	1.00[TSI][hapmap]
rs17146100	1.00[EUR][1000 genomes]
rs17146110	1.00[EUR][1000 genomes]
rs1787671	1.00[EUR][1000 genomes]
rs2022049	1.00[EUR][1000 genomes]
rs2518908	1.00[EUR][1000 genomes]
rs2666561	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2666562	1.00[EUR][1000 genomes]
rs2904961	1.00[EUR][1000 genomes]
rs2959651	1.00[EUR][1000 genomes]
rs3016758	1.00[EUR][1000 genomes]
rs41323046	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs475704	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs512926	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs516041	1.00[EUR][1000 genomes]
rs534052	1.00[TSI][hapmap]
rs534073	1.00[EUR][1000 genomes]
rs535606	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs541305	1.00[EUR][1000 genomes]
rs545167	1.00[EUR][1000 genomes]
rs545819	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs546323	1.00[EUR][1000 genomes]
rs547280	1.00[TSI][hapmap]
rs550930	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs553618	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs559095	1.00[EUR][1000 genomes]
rs559977	1.00[EUR][1000 genomes]
rs56186064	1.00[EUR][1000 genomes]
rs565688	1.00[EUR][1000 genomes]
rs573545	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs579175	1.00[EUR][1000 genomes]
rs58571986	1.00[EUR][1000 genomes]
rs6591863	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7110778	1.00[EUR][1000 genomes]
rs7113097	1.00[EUR][1000 genomes]
rs7123368	0.83[AFR][1000 genomes]
rs73492139	1.00[EUR][1000 genomes]
rs73492140	1.00[EUR][1000 genomes]
rs73492144	1.00[EUR][1000 genomes]
rs73494206	1.00[EUR][1000 genomes]
rs7927181	1.00[TSI][hapmap]
rs7948607	1.00[EUR][1000 genomes]
rs9326433	1.00[EUR][1000 genomes]
rs9326434	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9666331	1.00[TSI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
2	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
3	nsv897698	chr11:64447420-64621573	Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv897699	chr11:64447420-64638041	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1071 gene(s)	inside rSNPs	diseases
6	nsv1049744	chr11:64486615-64630149	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
7	nsv469962	chr11:64527080-64621573	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
8	nsv897704	chr11:64584987-64701030	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
9	nsv897705	chr11:64591679-64701030	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
10	nsv897706	chr11:64591679-64721908	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
11	nsv897707	chr11:64600002-64701030	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
12	nsv897708	chr11:64602757-64695271	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
13	nsv870106	chr11:64610698-64640067	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64611800-64620800	Weak transcription	HUVEC	blood vessel
2	chr11:64611800-64621200	Weak transcription	Fetal Heart	heart
3	chr11:64612600-64620800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:64612600-64621000	Weak transcription	Brain Anterior Caudate	brain
5	chr11:64612600-64639000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:64613000-64629800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:64613000-64630600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr11:64614400-64620800	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr11:64614400-64620800	Enhancers	Stomach Mucosa	stomach
10	chr11:64614400-64621000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr11:64614800-64621000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr11:64614800-64622600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:64615000-64621400	Weak transcription	Brain Angular Gyrus	brain
14	chr11:64615200-64621000	Weak transcription	Brain Substantia Nigra	brain
15	chr11:64615200-64621200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:64616800-64621400	Weak transcription	Pancreas	Pancrea
17	chr11:64617200-64627600	Genic enhancers	Fetal Intestine Small	intestine
18	chr11:64617200-64627600	Genic enhancers	NHLF	lung
19	chr11:64617400-64622000	Weak transcription	Small Intestine	intestine
20	chr11:64617600-64621200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr11:64617600-64629600	Weak transcription	Fetal Brain Male	brain
22	chr11:64617800-64621000	Weak transcription	Fetal Lung	lung
23	chr11:64617800-64621800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:64618400-64621600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:64618400-64622000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:64618400-64622800	Enhancers	Primary hematopoietic stem cells	blood
27	chr11:64618600-64622000	Genic enhancers	Duodenum Mucosa	Duodenum
28	chr11:64618600-64622000	Strong transcription	Fetal Stomach	stomach
29	chr11:64618600-64622000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr11:64618600-64622200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:64618600-64626200	Genic enhancers	Primary T cells fromperipheralblood	blood
32	chr11:64618600-64626200	Genic enhancers	Thymus	Thymus
33	chr11:64618600-64628000	Genic enhancers	Fetal Intestine Large	intestine
34	chr11:64618800-64621000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:64618800-64621800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr11:64618800-64622000	Strong transcription	Brain Hippocampus Middle	brain
37	chr11:64618800-64622000	Weak transcription	Ovary	ovary
38	chr11:64618800-64622200	Genic enhancers	Placenta Amnion	Placenta Amnion
39	chr11:64618800-64627800	Strong transcription	Brain Germinal Matrix	brain
40	chr11:64618800-64627800	Strong transcription	Fetal Brain Female	brain
41	chr11:64618800-64627800	Genic enhancers	Fetal Muscle Leg	muscle
42	chr11:64619000-64621600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
43	chr11:64619000-64621800	Weak transcription	Right Atrium	heart
44	chr11:64619000-64621800	Weak transcription	NH-A	brain
45	chr11:64619000-64621800	Strong transcription	Osteobl	bone
46	chr11:64619000-64622000	Genic enhancers	Stomach Smooth Muscle	stomach
47	chr11:64619000-64622000	Weak transcription	HepG2	liver
48	chr11:64619000-64622600	Genic enhancers	Placenta	Placenta
49	chr11:64619000-64625400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:64619000-64626600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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