Variant report

Variant	rs2838771
Chromosome Location	chr21:46501576-46501577
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46500190..46501705-chr21:46518779..46520799,2	K562	blood:
2	chr21:46499894..46505152-chr21:46506062..46510299,9	MCF-7	breast:
3	chr21:46499575..46502481-chr21:46547014..46549747,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197381	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2838773	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs373687	0.88[CEU][hapmap]
rs400140	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs414743	0.96[ASN][1000 genomes]
rs4819027	0.87[ASN][1000 genomes]
rs8130074	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9977825	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46495800-46502600	Weak transcription	Colonic Mucosa	Colon
2	chr21:46495800-46506000	Weak transcription	Pancreas	Pancrea
3	chr21:46496200-46506600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr21:46496200-46511600	Weak transcription	Fetal Intestine Small	intestine
5	chr21:46496400-46501600	Weak transcription	Small Intestine	intestine
6	chr21:46496400-46509000	Enhancers	Primary T cells fromperipheralblood	blood
7	chr21:46496400-46509000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr21:46496400-46511400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr21:46496400-46511400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr21:46496400-46513000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr21:46496600-46501600	Weak transcription	Brain Angular Gyrus	brain
12	chr21:46496600-46511600	Weak transcription	Brain Hippocampus Middle	brain
13	chr21:46496600-46512000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr21:46496600-46516200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr21:46497000-46502000	Genic enhancers	HSMM	muscle
16	chr21:46497000-46504600	Weak transcription	Fetal Intestine Large	intestine
17	chr21:46497600-46509200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr21:46498000-46502000	Enhancers	Placenta Amnion	Placenta Amnion
19	chr21:46498000-46509200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr21:46498200-46501600	Enhancers	HUVEC	blood vessel
21	chr21:46498200-46502000	Enhancers	Fetal Thymus	thymus
22	chr21:46498200-46502000	Enhancers	Left Ventricle	heart
23	chr21:46498400-46501600	Enhancers	Right Atrium	heart
24	chr21:46498400-46501800	Enhancers	Spleen	Spleen
25	chr21:46498600-46502800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr21:46498600-46513000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr21:46498800-46501600	Enhancers	Right Ventricle	heart
28	chr21:46499000-46506600	Weak transcription	Fetal Brain Male	brain
29	chr21:46499000-46522200	Weak transcription	NHDF-Ad	bronchial
30	chr21:46499200-46501600	Enhancers	Fetal Heart	heart
31	chr21:46499800-46501800	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr21:46499800-46507000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr21:46499800-46509200	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr21:46499800-46510400	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr21:46500000-46501800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr21:46500000-46506800	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr21:46500000-46522200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr21:46500200-46503000	Enhancers	Rectal Smooth Muscle	rectum
39	chr21:46500400-46503000	Weak transcription	Psoas Muscle	Psoas
40	chr21:46500600-46501600	Weak transcription	Thymus	Thymus
41	chr21:46500600-46501600	Enhancers	NH-A	brain
42	chr21:46500600-46501800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr21:46500600-46501800	Enhancers	NHLF	lung
44	chr21:46500800-46501600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr21:46500800-46501600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr21:46500800-46501600	Genic enhancers	Fetal Stomach	stomach
47	chr21:46500800-46501600	Enhancers	Osteobl	bone
48	chr21:46500800-46501800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr21:46500800-46501800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr21:46500800-46508800	Weak transcription	Fetal Brain Female	brain

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