Variant report

Variant	rs9982479
Chromosome Location	chr21:17125255-17125256
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:17123698..17126562-chr21:17142609..17145221,2	MCF-7	breast:
2	chr21:17101896..17103762-chr21:17124530..17127504,2	MCF-7	breast:
3	chr21:17104177..17106318-chr21:17123933..17125566,2	K562	blood:
4	chr21:17102350..17105296-chr21:17124464..17127138,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155313	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11910884	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11911814	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1986788	0.83[AFR][1000 genomes]
rs1989381	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2205585	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2223176	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2245574	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2823467	0.84[AFR][1000 genomes]
rs2823469	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2823472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2823473	0.88[AFR][1000 genomes]
rs2823476	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2823482	0.91[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2823489	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2823493	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2823495	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2823496	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2823497	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs28627435	0.87[AFR][1000 genomes]
rs28725201	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28730511	0.86[AFR][1000 genomes]
rs6517609	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6517611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6517612	0.87[AFR][1000 genomes]
rs6517613	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6517648	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6517652	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs722887	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7277813	0.86[AFR][1000 genomes]
rs7279157	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7279170	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7283707	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8127158	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8130607	0.87[AFR][1000 genomes]
rs8134327	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9941829	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9974210	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs9977000	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs9981766	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs9982083	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9983458	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]

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	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
9	esv275197	chr21:17123855-17130358	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17104200-17133400	Weak transcription	Colonic Mucosa	Colon
2	chr21:17114800-17126600	Weak transcription	Aorta	Aorta
3	chr21:17114800-17126600	Weak transcription	NH-A	brain
4	chr21:17115000-17126600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr21:17115200-17130000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr21:17115400-17145400	Weak transcription	Fetal Thymus	thymus
7	chr21:17115600-17133400	Weak transcription	Dnd41	blood
8	chr21:17115600-17139400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr21:17115800-17125600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr21:17116000-17125400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr21:17116200-17139400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr21:17116400-17125400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr21:17116600-17125400	Weak transcription	Fetal Muscle Leg	muscle
14	chr21:17116600-17125400	Weak transcription	Fetal Stomach	stomach
15	chr21:17116600-17125400	Weak transcription	Right Ventricle	heart
16	chr21:17116600-17125400	Weak transcription	Thymus	Thymus
17	chr21:17116600-17145400	Weak transcription	Esophagus	oesophagus
18	chr21:17117400-17125400	Weak transcription	Placenta	Placenta
19	chr21:17117400-17126400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr21:17121400-17125400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr21:17121400-17125600	Weak transcription	Fetal Brain Female	brain
22	chr21:17122200-17126400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr21:17122200-17126600	Enhancers	Primary T cells fromperipheralblood	blood
24	chr21:17122200-17126600	Weak transcription	Fetal Kidney	kidney
25	chr21:17122200-17127200	Enhancers	Psoas Muscle	Psoas
26	chr21:17122200-17129200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr21:17122400-17125400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr21:17122400-17125400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr21:17122400-17125400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr21:17122400-17126400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr21:17122400-17126600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr21:17122400-17126600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr21:17122400-17126600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr21:17122400-17126600	Weak transcription	HSMMtube	muscle
35	chr21:17122400-17126600	Weak transcription	Osteobl	bone
36	chr21:17122400-17126800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr21:17122400-17126800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr21:17122600-17125400	Weak transcription	Fetal Intestine Large	intestine
39	chr21:17122600-17125400	Weak transcription	Right Atrium	heart
40	chr21:17122600-17125400	Weak transcription	Stomach Mucosa	stomach
41	chr21:17122600-17125600	Weak transcription	Fetal Intestine Small	intestine
42	chr21:17122600-17126400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr21:17122600-17129000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr21:17122600-17142800	Weak transcription	Hela-S3	cervix
45	chr21:17122800-17125400	Weak transcription	Ovary	ovary
46	chr21:17122800-17125400	Weak transcription	Pancreas	Pancrea
47	chr21:17123000-17126200	Enhancers	Primary T cells from cord blood	blood
48	chr21:17123400-17128000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr21:17123400-17128200	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr21:17123400-17129400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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