Variant report

Variant	rs2838463
Chromosome Location	chr21:45403232-45403233
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45391227..45394196-chr21:45402468..45407272,4	K562	blood:
2	chr21:45400381..45403322-chr21:45403855..45406530,2	K562	blood:
3	chr21:45402810..45404680-chr21:45424122..45426021,2	MCF-7	breast:
4	chr21:45233368..45235252-chr21:45401269..45403414,2	MCF-7	breast:
5	chr21:45390949..45395215-chr21:45399667..45403680,4	K562	blood:
6	chr21:45402847..45404507-chr21:45421925..45424718,2	K562	blood:
7	chr21:45400066..45403685-chr21:45432405..45434021,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160216	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11910604	0.85[CHB][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs13847	0.82[JPT][hapmap]
rs2003774	0.86[CHB][hapmap]
rs2020943	1.00[TSI][hapmap]
rs2071144	1.00[TSI][hapmap]
rs2838448	1.00[CHB][hapmap];0.86[GIH][hapmap]
rs2838452	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs2838459	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2838465	1.00[EUR][1000 genomes]
rs2838479	1.00[TSI][hapmap]
rs2838484	1.00[TSI][hapmap]
rs2838487	1.00[TSI][hapmap]
rs3737358	0.86[CHB][hapmap]
rs56218303	1.00[AMR][1000 genomes]
rs57913591	1.00[EUR][1000 genomes]
rs73906694	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73906696	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8129146	0.96[ASN][1000 genomes]
rs8132719	0.96[ASN][1000 genomes]
rs878132	0.85[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9680153	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9974076	1.00[EUR][1000 genomes]
rs9976939	1.00[EUR][1000 genomes]
rs9978109	1.00[TSI][hapmap]
rs9978334	1.00[EUR][1000 genomes]
rs9982148	1.00[TSI][hapmap]

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	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv913888	chr21:45351206-45428278	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv913889	chr21:45361044-45414119	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45378200-45403800	Strong transcription	Dnd41	blood
2	chr21:45378800-45420200	Weak transcription	Right Atrium	heart
3	chr21:45379000-45406000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr21:45379600-45405000	Weak transcription	NHDF-Ad	bronchial
5	chr21:45383200-45405400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr21:45383200-45405400	Weak transcription	Hela-S3	cervix
7	chr21:45383400-45405200	Weak transcription	HUVEC	blood vessel
8	chr21:45391600-45406800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr21:45392000-45406800	Weak transcription	NHEK	skin
10	chr21:45393000-45405200	Weak transcription	HepG2	liver
11	chr21:45393200-45413800	Weak transcription	HSMMtube	muscle
12	chr21:45395400-45403800	Weak transcription	Fetal Kidney	kidney
13	chr21:45395400-45406000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr21:45395600-45404200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr21:45395800-45405000	Strong transcription	Fetal Intestine Small	intestine
16	chr21:45395800-45405400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr21:45395800-45405600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr21:45396200-45404200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr21:45396600-45403600	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr21:45396600-45403800	Strong transcription	Liver	Liver
21	chr21:45396600-45404200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr21:45396600-45404200	Strong transcription	Esophagus	oesophagus
23	chr21:45396600-45404200	Strong transcription	Thymus	Thymus
24	chr21:45396600-45404400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr21:45396600-45404800	Strong transcription	Fetal Stomach	stomach
26	chr21:45396800-45403600	Strong transcription	Fetal Intestine Large	intestine
27	chr21:45396800-45405000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr21:45397000-45404200	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr21:45397200-45403600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr21:45397200-45404000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr21:45397200-45404200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr21:45397200-45404200	Strong transcription	Left Ventricle	heart
33	chr21:45397200-45404200	Strong transcription	Lung	lung
34	chr21:45397600-45403800	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr21:45397800-45404000	Strong transcription	Fetal Muscle Leg	muscle
36	chr21:45397800-45404000	Strong transcription	Placenta	Placenta
37	chr21:45397800-45404000	Strong transcription	Gastric	stomach
38	chr21:45397800-45404200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr21:45397800-45404200	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr21:45397800-45404600	Strong transcription	Fetal Brain Female	brain
41	chr21:45398000-45404200	Strong transcription	Stomach Smooth Muscle	stomach
42	chr21:45398600-45404600	Weak transcription	Stomach Mucosa	stomach
43	chr21:45398800-45405000	Weak transcription	HSMM	muscle
44	chr21:45398800-45405400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr21:45398800-45405600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr21:45399200-45404200	Strong transcription	Pancreas	Pancrea
47	chr21:45399400-45404400	Strong transcription	Primary T cells from cord blood	blood
48	chr21:45399600-45403800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr21:45399800-45404400	Weak transcription	GM12878-XiMat	blood
50	chr21:45400200-45404200	Strong transcription	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links