Variant report

Variant	rs171021
Chromosome Location	chr11:72317557-72317558
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72316726..72319178-chr11:72323210..72325569,2	K562	blood:
2	chr11:72300647..72303115-chr11:72315486..72318299,2	MCF-7	breast:
3	chr11:72314859..72319000-chr11:72319326..72322445,4	K562	blood:
4	chr11:72317260..72319196-chr11:72329466..72332421,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186642	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1877652	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1980091	0.86[CHB][hapmap];0.84[CHD][hapmap];0.95[MEX][hapmap]
rs2365774	0.81[CEU][hapmap];0.87[CHB][hapmap];0.82[CHD][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs341085	0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs392565	0.87[CHB][hapmap];0.82[CHD][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap]
rs426907	0.80[CHB][hapmap];0.82[CHD][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs458360	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794740	chr11:72021720-72332931	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
2	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
3	esv1832864	chr11:72270965-72389125	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
4	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
5	nsv468633	chr11:72281884-72336564	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv468634	chr11:72281884-72336564	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv555406	chr11:72281884-72336564	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
8	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
9	nsv468635	chr11:72284569-72336564	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv555407	chr11:72284569-72336564	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1042182	chr11:72294042-72348491	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs171021	KRTAP5-7	cis	parietal	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72312800-72317600	Genic enhancers	Spleen	Spleen
2	chr11:72313400-72322400	Weak transcription	Fetal Intestine Small	intestine
3	chr11:72315800-72319000	Enhancers	Ovary	ovary
4	chr11:72316000-72319400	Genic enhancers	Right Ventricle	heart
5	chr11:72316000-72319600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr11:72316200-72318400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr11:72316400-72317800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:72316600-72317600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:72316600-72317600	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr11:72316600-72317600	Enhancers	Placenta	Placenta
11	chr11:72316600-72317800	Genic enhancers	Stomach Smooth Muscle	stomach
12	chr11:72316600-72318400	Enhancers	Fetal Muscle Leg	muscle
13	chr11:72316600-72318400	Enhancers	HSMMtube	muscle
14	chr11:72316600-72319400	Enhancers	Brain Cingulate Gyrus	brain
15	chr11:72316600-72319800	Enhancers	Brain Anterior Caudate	brain
16	chr11:72316600-72320600	Enhancers	Left Ventricle	heart
17	chr11:72316800-72317600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:72316800-72317600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr11:72316800-72317600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr11:72316800-72317600	Bivalent Enhancer	NHDF-Ad	bronchial
21	chr11:72316800-72317800	Enhancers	Fetal Lung	lung
22	chr11:72316800-72318600	Bivalent Enhancer	Fetal Stomach	stomach
23	chr11:72316800-72318600	Enhancers	Right Atrium	heart
24	chr11:72316800-72319000	Genic enhancers	Brain Germinal Matrix	brain
25	chr11:72317000-72317600	Enhancers	Rectal Smooth Muscle	rectum
26	chr11:72317000-72317800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:72317000-72318000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:72317000-72318800	Enhancers	Fetal Brain Female	brain
29	chr11:72317000-72319000	Enhancers	Fetal Brain Male	brain
30	chr11:72317000-72319400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:72317200-72317600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
32	chr11:72317200-72317800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:72317200-72317800	Bivalent Enhancer	Osteobl	bone
34	chr11:72317200-72318200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:72317200-72318200	Weak transcription	Liver	Liver
36	chr11:72317200-72318200	Enhancers	Fetal Heart	heart
37	chr11:72317200-72319200	Enhancers	Fetal Muscle Trunk	muscle
38	chr11:72317200-72321400	Weak transcription	Colonic Mucosa	Colon
39	chr11:72317400-72317600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:72317400-72317600	Enhancers	Gastric	stomach
41	chr11:72317400-72317800	Weak transcription	Esophagus	oesophagus
42	chr11:72317400-72318000	Enhancers	Adipose Nuclei	Adipose
43	chr11:72317400-72318400	Enhancers	HSMM	muscle
44	chr11:72317400-72318400	Bivalent Enhancer	NHLF	lung
45	chr11:72317400-72319000	Enhancers	Brain Angular Gyrus	brain
46	chr11:72317400-72319400	Weak transcription	Brain Hippocampus Middle	brain
47	chr11:72317400-72319600	Genic enhancers	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links