Variant report

Variant	rs870350
Chromosome Location	chr21:46505089-46505090
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:46499894..46505152-chr21:46506062..46510299,9	MCF-7	breast:
2	chr21:46504412..46507168-chr21:46508200..46509950,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs12482868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12482952	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12482954	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12483020	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12483115	0.85[ASN][1000 genomes]
rs12483279	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12483312	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12483758	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1556316	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17004734	0.99[ASN][1000 genomes]
rs17004739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2838774	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838789	0.91[ASN][1000 genomes]
rs3178603	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs367228	1.00[ASN][1000 genomes]
rs3746976	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3788154	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3788155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788156	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3788164	0.91[AFR][1000 genomes]
rs386528	0.85[ASN][1000 genomes]
rs406551	0.84[ASN][1000 genomes]
rs421643	0.85[ASN][1000 genomes]
rs423726	0.85[ASN][1000 genomes]
rs428870	0.83[ASN][1000 genomes]
rs431529	0.85[ASN][1000 genomes]
rs431666	0.85[ASN][1000 genomes]
rs431775	0.85[ASN][1000 genomes]
rs439884	0.85[ASN][1000 genomes]
rs442380	0.85[ASN][1000 genomes]
rs447656	0.85[ASN][1000 genomes]
rs7275205	0.97[ASN][1000 genomes]
rs7275931	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7281718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7283619	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs731248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8127577	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8129934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8132454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8132752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8134889	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs870145	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs870351	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv834110	chr21:46316183-46505151	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
3	nsv3541	chr21:46496415-46536629	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46495800-46506000	Weak transcription	Pancreas	Pancrea
2	chr21:46496200-46506600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr21:46496200-46511600	Weak transcription	Fetal Intestine Small	intestine
4	chr21:46496400-46509000	Enhancers	Primary T cells fromperipheralblood	blood
5	chr21:46496400-46509000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr21:46496400-46511400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr21:46496400-46511400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr21:46496400-46513000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr21:46496600-46511600	Weak transcription	Brain Hippocampus Middle	brain
10	chr21:46496600-46512000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr21:46496600-46516200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr21:46497600-46509200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr21:46498000-46509200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr21:46498600-46513000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr21:46499000-46506600	Weak transcription	Fetal Brain Male	brain
16	chr21:46499000-46522200	Weak transcription	NHDF-Ad	bronchial
17	chr21:46499800-46507000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr21:46499800-46509200	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr21:46499800-46510400	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr21:46500000-46506800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr21:46500000-46522200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr21:46500800-46508800	Weak transcription	Fetal Brain Female	brain
23	chr21:46501000-46506800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr21:46501000-46509000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr21:46501200-46508600	Strong transcription	Hela-S3	cervix
26	chr21:46501400-46506400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr21:46501600-46505800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr21:46501600-46506400	Enhancers	Primary T cells from cord blood	blood
29	chr21:46501600-46506400	Weak transcription	K562	blood
30	chr21:46501600-46508200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr21:46501600-46511200	Weak transcription	Fetal Heart	heart
32	chr21:46501600-46511400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr21:46501600-46513000	Weak transcription	Brain Anterior Caudate	brain
34	chr21:46501800-46505800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr21:46501800-46506200	Weak transcription	Spleen	Spleen
36	chr21:46501800-46506400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr21:46501800-46507200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr21:46501800-46509000	Weak transcription	NHLF	lung
39	chr21:46501800-46511400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr21:46502000-46506000	Strong transcription	HSMM	muscle
41	chr21:46502000-46506600	Weak transcription	Small Intestine	intestine
42	chr21:46502000-46506600	Weak transcription	Thymus	Thymus
43	chr21:46502000-46507200	Weak transcription	Esophagus	oesophagus
44	chr21:46502000-46511400	Weak transcription	Gastric	stomach
45	chr21:46502000-46515400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr21:46502000-46516000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr21:46502200-46505600	Weak transcription	Adipose Nuclei	Adipose
48	chr21:46502600-46508800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr21:46502600-46509000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr21:46502600-46511400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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