Variant report

Variant	rs2838773
Chromosome Location	chr21:46504038-46504039
allele	C/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	chr21:46502343..46504540-chr21:46529179..46531267,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2150438	0.81[CHB][hapmap]
rs2838763	0.80[CHB][hapmap]
rs2838771	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	0.92[CEU][hapmap];0.87[CHB][hapmap]
rs400140	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs414743	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs4819027	0.85[ASN][1000 genomes]
rs7282639	0.81[CHB][hapmap]
rs8130074	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9977825	0.81[AMR][1000 genomes];0.81[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: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	chr21:46497000-46504600	Weak transcription	Fetal Intestine Large	intestine
13	chr21:46497600-46509200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr21:46498000-46509200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr21:46498600-46513000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:46499000-46506600	Weak transcription	Fetal Brain Male	brain
17	chr21:46499000-46522200	Weak transcription	NHDF-Ad	bronchial
18	chr21:46499800-46507000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr21:46499800-46509200	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr21:46499800-46510400	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr21:46500000-46506800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr21:46500000-46522200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr21:46500800-46508800	Weak transcription	Fetal Brain Female	brain
24	chr21:46501000-46506800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr21:46501000-46509000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr21:46501200-46508600	Strong transcription	Hela-S3	cervix
27	chr21:46501400-46506400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr21:46501600-46504400	Enhancers	Colon Smooth Muscle	Colon
29	chr21:46501600-46504800	Strong transcription	Fetal Stomach	stomach
30	chr21:46501600-46504800	Weak transcription	Right Atrium	heart
31	chr21:46501600-46505800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr21:46501600-46506400	Enhancers	Primary T cells from cord blood	blood
33	chr21:46501600-46506400	Weak transcription	K562	blood
34	chr21:46501600-46508200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr21:46501600-46511200	Weak transcription	Fetal Heart	heart
36	chr21:46501600-46511400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr21:46501600-46513000	Weak transcription	Brain Anterior Caudate	brain
38	chr21:46501800-46504200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr21:46501800-46505800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr21:46501800-46506200	Weak transcription	Spleen	Spleen
41	chr21:46501800-46506400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr21:46501800-46507200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr21:46501800-46509000	Weak transcription	NHLF	lung
44	chr21:46501800-46511400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr21:46502000-46504200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr21:46502000-46504200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr21:46502000-46506000	Strong transcription	HSMM	muscle
48	chr21:46502000-46506600	Weak transcription	Small Intestine	intestine
49	chr21:46502000-46506600	Weak transcription	Thymus	Thymus
50	chr21:46502000-46507200	Weak transcription	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links