Variant report

Variant	rs475817
Chromosome Location	chr11:65868310-65868311
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1151532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1190945	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1190946	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1191715	0.96[AFR][1000 genomes]
rs1203551	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203552	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203801	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1630638	0.96[AFR][1000 genomes]
rs1783562	0.92[AFR][1000 genomes]
rs1783732	1.00[YRI][hapmap]
rs2430981	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2452687	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3016315	0.85[AFR][1000 genomes]
rs3017606	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4523703	0.83[YRI][hapmap]
rs471709	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs472853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs477001	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs485547	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4930332	0.96[AFR][1000 genomes]
rs502898	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs504456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs505412	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs505642	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs510398	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs512316	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs515778	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs519911	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs527279	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs532265	0.86[AFR][1000 genomes]
rs541954	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs547282	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs547892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs549228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs551652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs555527	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs555826	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs559298	1.00[YRI][hapmap]
rs560105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs560983	0.83[AFR][1000 genomes]
rs561199	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs561869	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs567414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs568423	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs571368	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs572697	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs577301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs581247	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6591196	0.92[AFR][1000 genomes]
rs693382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7934588	0.89[AFR][1000 genomes]
rs7947668	0.96[AFR][1000 genomes]
rs948358	1.00[YRI][hapmap]
rs948477	1.00[YRI][hapmap];0.96[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	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65840600-65870600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:65845800-65868800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:65848400-65874200	Weak transcription	Fetal Muscle Leg	muscle
4	chr11:65849200-65879600	Weak transcription	Aorta	Aorta
5	chr11:65851600-65882800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:65851800-65872000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:65851800-65878800	Weak transcription	HSMM	muscle
8	chr11:65852000-65874000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:65852200-65871600	Weak transcription	Hela-S3	cervix
10	chr11:65853400-65871600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:65859000-65873600	Weak transcription	Fetal Intestine Small	intestine
12	chr11:65863800-65880200	Weak transcription	Fetal Stomach	stomach
13	chr11:65867200-65870600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr11:65867400-65869000	Enhancers	Adipose Nuclei	Adipose
15	chr11:65867400-65869200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr11:65867600-65868400	Enhancers	Right Ventricle	heart
17	chr11:65867600-65868800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr11:65867600-65868800	Enhancers	Fetal Heart	heart
19	chr11:65867600-65869200	Enhancers	Stomach Mucosa	stomach
20	chr11:65867800-65868400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:65867800-65868400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:65867800-65868400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr11:65867800-65868400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
24	chr11:65867800-65868400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr11:65867800-65868400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr11:65867800-65868400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr11:65867800-65868400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr11:65867800-65868400	Enhancers	Brain Anterior Caudate	brain
29	chr11:65867800-65868400	Enhancers	Brain Cingulate Gyrus	brain
30	chr11:65867800-65868400	Enhancers	Esophagus	oesophagus
31	chr11:65867800-65868400	Enhancers	Gastric	stomach
32	chr11:65867800-65868400	Enhancers	Left Ventricle	heart
33	chr11:65867800-65868400	Enhancers	Lung	lung
34	chr11:65867800-65868400	Enhancers	Ovary	ovary
35	chr11:65867800-65868400	Enhancers	Psoas Muscle	Psoas
36	chr11:65867800-65868400	Enhancers	Right Atrium	heart
37	chr11:65867800-65868400	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr11:65867800-65868400	Flanking Active TSS	A549	lung
39	chr11:65867800-65868400	Flanking Active TSS	GM12878-XiMat	blood
40	chr11:65867800-65868400	Enhancers	Osteobl	bone
41	chr11:65867800-65868600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:65867800-65868600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:65867800-65868600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:65867800-65868600	Enhancers	Colon Smooth Muscle	Colon
45	chr11:65867800-65868600	Enhancers	Pancreas	Pancrea
46	chr11:65867800-65868600	Enhancers	HMEC	breast
47	chr11:65867800-65868600	Flanking Active TSS	NHEK	skin
48	chr11:65867800-65868800	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr11:65867800-65869000	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr11:65867800-65869200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links