Variant report

Variant	rs8127158
Chromosome Location	chr21:17107288-17107289
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:17103751..17105716-chr21:17107281..17109325,2	MCF-7	breast:
2	chr21:17105250..17107735-chr21:17192810..17196080,3	K562	blood:
3	chr21:17105614..17107368-chr21:17115723..17117449,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234159	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10482875	0.83[CEU][hapmap]
rs10482876	1.00[CEU][hapmap]
rs11910884	0.81[CEU][hapmap];0.80[CHB][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes]
rs11911814	0.85[AMR][1000 genomes]
rs1543299	0.91[CEU][hapmap]
rs17241416	0.91[CEU][hapmap]
rs17241423	0.89[CEU][hapmap]
rs17241430	0.91[CEU][hapmap]
rs17241444	0.91[CEU][hapmap]
rs17307120	0.83[CEU][hapmap]
rs17307176	1.00[CEU][hapmap]
rs1989381	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2026853	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap]
rs2205585	0.82[AFR][1000 genomes]
rs2223176	0.82[AFR][1000 genomes]
rs2242676	0.91[CEU][hapmap]
rs2245574	0.82[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.87[YRI][hapmap]
rs2404001	0.83[CEU][hapmap]
rs2823455	0.91[CEU][hapmap]
rs2823462	0.83[CEU][hapmap]
rs2823463	0.83[CEU][hapmap]
rs2823467	0.84[AFR][1000 genomes]
rs2823469	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2823470	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2823471	0.91[CEU][hapmap]
rs2823472	1.00[CEU][hapmap];0.83[CHB][hapmap];0.97[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2823473	0.82[AFR][1000 genomes]
rs2823476	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2823477	0.87[YRI][hapmap]
rs2823478	1.00[CEU][hapmap]
rs2823482	0.82[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2823487	0.87[YRI][hapmap]
rs2823489	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2823491	1.00[CEU][hapmap]
rs2823493	0.91[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.87[YRI][hapmap]
rs2823496	0.82[AFR][1000 genomes]
rs2823497	0.80[AFR][1000 genomes]
rs2823499	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap]
rs2823500	0.91[CEU][hapmap];0.87[YRI][hapmap]
rs2823504	0.91[CEU][hapmap]
rs28627435	0.86[AFR][1000 genomes]
rs28725201	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28730511	0.81[AFR][1000 genomes]
rs3787577	1.00[CEU][hapmap]
rs6517609	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6517611	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6517612	0.86[YRI][hapmap];0.81[AFR][1000 genomes]
rs6517613	1.00[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6517648	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6517652	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs722887	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7277807	0.83[CEU][hapmap]
rs7277813	0.84[AFR][1000 genomes]
rs7278428	0.83[CEU][hapmap]
rs7279157	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7279170	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7281511	0.91[CEU][hapmap];0.90[YRI][hapmap]
rs7283707	1.00[CEU][hapmap];0.88[CHB][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8130607	0.86[YRI][hapmap];0.81[AFR][1000 genomes]
rs8134327	0.91[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9941829	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9974210	0.80[AFR][1000 genomes]
rs9977000	0.80[AFR][1000 genomes]
rs9981766	0.82[AFR][1000 genomes]
rs9982083	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9982479	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9983458	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9983542	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762093	chr21:16948663-17145770	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1064683	chr21:16954570-17145758	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv459099	chr21:16956866-17145011	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv587076	chr21:16956866-17145011	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1062105	chr21:16956885-17141961	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv544380	chr21:16956885-17141961	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1059500	chr21:16957752-17145758	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv2830057	chr21:16960590-17113148	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	esv1815433	chr21:17106192-17167353	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17103200-17114400	Weak transcription	Spleen	Spleen
2	chr21:17103400-17114400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr21:17103800-17108400	Weak transcription	Pancreas	Pancrea
4	chr21:17103800-17114400	Weak transcription	Lung	lung
5	chr21:17103800-17115000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr21:17104000-17114600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr21:17104000-17114600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr21:17104200-17110800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr21:17104200-17133400	Weak transcription	Colonic Mucosa	Colon
10	chr21:17104600-17111800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr21:17104600-17113000	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr21:17104600-17114600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr21:17104600-17123400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr21:17104800-17111400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr21:17104800-17115000	Weak transcription	Fetal Muscle Leg	muscle
16	chr21:17105000-17107800	Weak transcription	Ovary	ovary
17	chr21:17105000-17109400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr21:17105000-17114000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr21:17105400-17107600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr21:17105400-17107600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr21:17105400-17107600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr21:17105400-17107600	Weak transcription	Osteobl	bone
23	chr21:17105400-17107800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr21:17105400-17107800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr21:17105400-17107800	Weak transcription	Fetal Lung	lung
26	chr21:17105400-17107800	Weak transcription	Right Atrium	heart
27	chr21:17105400-17107800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr21:17105400-17107800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr21:17105400-17107800	Weak transcription	HSMM	muscle
30	chr21:17105400-17107800	Weak transcription	NHDF-Ad	bronchial
31	chr21:17105400-17108000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr21:17105400-17108000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr21:17105400-17108000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr21:17105400-17108000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr21:17105400-17108000	Weak transcription	Stomach Mucosa	stomach
36	chr21:17105400-17108000	Enhancers	HUVEC	blood vessel
37	chr21:17105400-17108200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr21:17105400-17108800	Enhancers	Primary B cells from cord blood	blood
39	chr21:17105400-17110800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr21:17105400-17111600	Weak transcription	Brain Anterior Caudate	brain
41	chr21:17105400-17111600	Weak transcription	Esophagus	oesophagus
42	chr21:17105400-17111800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr21:17105400-17112000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr21:17105400-17112200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr21:17105400-17112200	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr21:17105400-17112400	Weak transcription	Brain Hippocampus Middle	brain
47	chr21:17105400-17113200	Weak transcription	NH-A	brain
48	chr21:17105400-17113600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr21:17105400-17113800	Weak transcription	HSMMtube	muscle
50	chr21:17105400-17114000	Weak transcription	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links