Variant report

Variant	rs57941917
Chromosome Location	chr8:125541481-125541482
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125458668..125465446-chr8:125536808..125541745,7	MCF-7	breast:
2	chr8:125463047..125464568-chr8:125539711..125541487,2	K562	blood:
3	chr8:125484651..125489587-chr8:125535041..125543731,11	K562	blood:
4	chr8:125541023..125542526-chr8:125981975..125984707,2	MCF-7	breast:
5	chr8:125485366..125490256-chr8:125538202..125541512,6	K562	blood:
6	chr8:125468769..125470638-chr8:125539917..125541546,2	K562	blood:
7	chr8:125482386..125490832-chr8:125532319..125553620,55	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245149	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000183665	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10956184	0.92[AMR][1000 genomes]
rs10956185	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10956189	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12542260	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12544211	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12544621	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12545267	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12546906	0.82[AMR][1000 genomes]
rs12548836	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12550827	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4512366	0.92[AMR][1000 genomes]
rs4551335	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4602869	0.82[AMR][1000 genomes]
rs5004281	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56942034	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62527883	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62527886	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62527901	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62527908	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62527910	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6987358	0.81[AMR][1000 genomes]
rs7830325	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7845008	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[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	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125488200-125550400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:125489000-125543400	Weak transcription	Small Intestine	intestine
3	chr8:125496600-125549600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:125496800-125547400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:125500000-125549600	Weak transcription	Fetal Brain Male	brain
6	chr8:125501600-125550000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr8:125504000-125550800	Weak transcription	Spleen	Spleen
8	chr8:125516200-125543600	Weak transcription	Aorta	Aorta
9	chr8:125516200-125549600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr8:125516200-125549600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr8:125516400-125549600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr8:125519200-125550000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:125520000-125550600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:125525200-125549600	Weak transcription	Brain Germinal Matrix	brain
15	chr8:125527600-125550200	Weak transcription	Fetal Brain Female	brain
16	chr8:125528000-125550400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr8:125529200-125543600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr8:125529200-125544000	Weak transcription	Fetal Stomach	stomach
19	chr8:125529400-125543200	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:125531400-125542600	Weak transcription	Colon Smooth Muscle	Colon
21	chr8:125531400-125547400	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr8:125531400-125550000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr8:125531600-125543400	Weak transcription	Fetal Thymus	thymus
24	chr8:125531600-125543600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr8:125531600-125544200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr8:125531600-125548400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:125531600-125550000	Weak transcription	Fetal Lung	lung
28	chr8:125532000-125543000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:125532000-125544000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr8:125532200-125543400	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr8:125532200-125543800	Weak transcription	Placenta	Placenta
32	chr8:125532200-125544000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr8:125534000-125542600	Weak transcription	Dnd41	blood
34	chr8:125535600-125543400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr8:125535800-125542400	Weak transcription	Primary T cells from cord blood	blood
36	chr8:125535800-125543000	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr8:125535800-125550000	Weak transcription	Thymus	Thymus
38	chr8:125536200-125543200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr8:125536400-125543400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:125537200-125544000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr8:125537200-125544400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr8:125537200-125550400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr8:125537800-125550400	Weak transcription	Esophagus	oesophagus
44	chr8:125538000-125542800	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr8:125538000-125542800	Weak transcription	Brain Anterior Caudate	brain
46	chr8:125538000-125543800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:125538000-125544200	Enhancers	Fetal Intestine Small	intestine
48	chr8:125538200-125542200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr8:125538200-125549600	Weak transcription	HUVEC	blood vessel
50	chr8:125538400-125543400	Weak transcription	Brain Hippocampus Middle	brain

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