Variant report

Variant	rs2453993
Chromosome Location	chr8:104042625-104042626
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:104037448..104042958-chr8:104046176..104050630,6	K562	blood:
2	chr8:104042210..104044576-chr8:104054551..104056917,2	K562	blood:
3	chr8:104039861..104042751-chr8:104047138..104050015,2	MCF-7	breast:
4	chr8:104038722..104042958-chr8:104046320..104050630,4	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1159227	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1398272	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1473820	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1512350	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1512352	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1512353	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1512354	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2017133	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2047374	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2132861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2132862	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2132864	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2132865	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2132866	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2388374	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453992	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2454041	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2454042	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2454047	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2454048	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458273	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458274	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458275	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458282	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458294	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2515193	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2515196	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515202	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515204	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2935587	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3019160	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3019164	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3019165	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs924211	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104034000-104043600	Weak transcription	Aorta	Aorta
2	chr8:104034200-104068800	Weak transcription	Small Intestine	intestine
3	chr8:104034400-104043400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:104034400-104059400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:104034400-104069400	Weak transcription	Esophagus	oesophagus
6	chr8:104034600-104043600	Weak transcription	Brain Substantia Nigra	brain
7	chr8:104034600-104050200	Weak transcription	Fetal Stomach	stomach
8	chr8:104034600-104053000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr8:104034600-104059800	Weak transcription	A549	lung
10	chr8:104034600-104063600	Weak transcription	HSMMtube	muscle
11	chr8:104034600-104068400	Weak transcription	Right Ventricle	heart
12	chr8:104034800-104043000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr8:104034800-104048000	Weak transcription	NHDF-Ad	bronchial
14	chr8:104034800-104053000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:104034800-104054200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:104034800-104054200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr8:104034800-104054400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr8:104034800-104058800	Weak transcription	HSMM	muscle
19	chr8:104034800-104058800	Weak transcription	NH-A	brain
20	chr8:104034800-104065600	Weak transcription	Fetal Kidney	kidney
21	chr8:104034800-104074600	Weak transcription	NHEK	skin
22	chr8:104035200-104053200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:104035200-104054200	Weak transcription	Placenta	Placenta
24	chr8:104035400-104042800	Weak transcription	Fetal Intestine Small	intestine
25	chr8:104035400-104043200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr8:104035400-104047800	Weak transcription	Lung	lung
27	chr8:104035400-104050200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:104035400-104050200	Weak transcription	Left Ventricle	heart
29	chr8:104035400-104053000	Weak transcription	Fetal Intestine Large	intestine
30	chr8:104035400-104053600	Weak transcription	Fetal Muscle Leg	muscle
31	chr8:104035400-104054200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:104035400-104054600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:104035400-104061800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr8:104035400-104071200	Weak transcription	Brain Angular Gyrus	brain
35	chr8:104035600-104042800	Weak transcription	Hela-S3	cervix
36	chr8:104035600-104043600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:104035600-104050200	Weak transcription	Right Atrium	heart
38	chr8:104035600-104053000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:104035600-104053200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:104035600-104054200	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr8:104035600-104054600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:104035600-104054600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr8:104035800-104043000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:104035800-104048000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:104035800-104053600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:104035800-104054200	Weak transcription	Fetal Lung	lung
47	chr8:104035800-104054200	Weak transcription	Dnd41	blood
48	chr8:104035800-104059400	Weak transcription	Thymus	Thymus
49	chr8:104035800-104061800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr8:104036000-104056600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links