Variant report

Variant	rs3017606
Chromosome Location	chr11:65991484-65991485
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65990200..65991893-chr11:66024083..66025647,2	K562	blood:
2	chr11:65985243..65987105-chr11:65991157..65993460,2	K562	blood:
3	chr11:65983052..65986048-chr11:65987938..65993154,6	K562	blood:
4	chr11:65989212..65991575-chr11:66026106..66027836,2	K562	blood:
5	chr11:65983052..65984959-chr11:65990030..65991676,2	K562	blood:
6	chr11:65990075..65991917-chr11:66023311..66027606,4	K562	blood:
7	chr11:65990668..65992905-chr11:66012040..66014914,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255320	Chromatin interaction
ENSG00000174996	Chromatin interaction
ENSG00000175115	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1151532	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1190945	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1190946	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1191715	0.85[AFR][1000 genomes]
rs1203551	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203552	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203749	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203750	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203801	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1300706	0.84[AFR][1000 genomes]
rs1630638	0.85[AFR][1000 genomes]
rs1783562	0.82[AFR][1000 genomes]
rs2430981	1.00[AMR][1000 genomes]
rs2452687	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3016315	0.89[AFR][1000 genomes]
rs471709	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs472853	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs475817	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs477001	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs485547	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4930332	0.85[AFR][1000 genomes]
rs502898	1.00[AMR][1000 genomes]
rs504456	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs505412	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs505642	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs510398	0.89[AFR][1000 genomes]
rs512316	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs515778	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs519911	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs527279	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs541954	1.00[AMR][1000 genomes]
rs547282	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs547892	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs549228	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs551652	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs555527	1.00[AMR][1000 genomes]
rs555826	0.89[AFR][1000 genomes]
rs559298	0.80[AFR][1000 genomes]
rs560105	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs561199	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs561869	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs567414	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs568423	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs571368	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs572697	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs577301	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs581247	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6591196	0.82[AFR][1000 genomes]
rs693382	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7947668	0.85[AFR][1000 genomes]
rs948358	0.82[AFR][1000 genomes]
rs948477	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65961400-66011200	Weak transcription	Psoas Muscle	Psoas
2	chr11:65976600-66006000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:65976800-65996000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:65977200-65996000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr11:65977400-66010600	Strong transcription	Fetal Stomach	stomach
6	chr11:65977600-66018600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:65978000-65993000	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr11:65979800-66001200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:65980000-65994000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:65982200-65995800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:65984600-66024200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:65984800-66000400	Weak transcription	HMEC	breast
13	chr11:65985200-65998800	Weak transcription	NHDF-Ad	bronchial
14	chr11:65985800-65991800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:65985800-66017800	Weak transcription	Fetal Heart	heart
16	chr11:65986600-65991800	Weak transcription	NH-A	brain
17	chr11:65987000-65992200	Weak transcription	HSMMtube	muscle
18	chr11:65987600-65992200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr11:65987800-65991800	Weak transcription	HSMM	muscle
20	chr11:65987800-66003400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:65988200-65991800	Weak transcription	Colon Smooth Muscle	Colon
22	chr11:65988200-66001200	Weak transcription	Small Intestine	intestine
23	chr11:65988400-65992400	Weak transcription	HUVEC	blood vessel
24	chr11:65988400-65995800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr11:65988600-65995200	Weak transcription	Brain Angular Gyrus	brain
26	chr11:65988600-65995200	Weak transcription	NHLF	lung
27	chr11:65988600-65997800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr11:65988800-65991600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:65988800-65991600	Weak transcription	Ovary	ovary
30	chr11:65988800-65991800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:65988800-65991800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:65988800-65991800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr11:65988800-65991800	Weak transcription	Brain Anterior Caudate	brain
34	chr11:65988800-65991800	Weak transcription	Lung	lung
35	chr11:65988800-65992000	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr11:65988800-65992000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr11:65988800-65992200	Weak transcription	Aorta	Aorta
38	chr11:65988800-65992400	Weak transcription	Brain Hippocampus Middle	brain
39	chr11:65988800-65992400	Weak transcription	Fetal Lung	lung
40	chr11:65988800-65992400	Weak transcription	Left Ventricle	heart
41	chr11:65988800-65992400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr11:65988800-65994600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:65988800-65995000	Weak transcription	Liver	Liver
44	chr11:65988800-65997800	Weak transcription	Pancreas	Pancrea
45	chr11:65988800-65998400	Weak transcription	Brain Substantia Nigra	brain
46	chr11:65988800-65998800	Weak transcription	Colonic Mucosa	Colon
47	chr11:65989000-65991800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:65989000-65991800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr11:65989000-65995200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr11:65989000-65997800	Weak transcription	Right Ventricle	heart

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