Variant report

Variant	rs10474634
Chromosome Location	chr5:79964426-79964427
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:79949741..79953345-chr5:79963177..79965614,3	K562	blood:
2	chr5:79948482..79951173-chr5:79961260..79964699,4	MCF-7	breast:
3	chr5:79784119..79786030-chr5:79964336..79965848,2	MCF-7	breast:
4	chr5:79864951..79867602-chr5:79962481..79965182,3	MCF-7	breast:
5	chr5:79956607..79959193-chr5:79962502..79964568,2	MCF-7	breast:
6	chr5:79963791..79966264-chr5:79966320..79968324,2	MCF-7	breast:
7	chr5:79959827..79961745-chr5:79962101..79964799,2	K562	blood:
8	chr5:79964150..79966462-chr5:79974912..79977180,3	MCF-7	breast:
9	chr5:79949216..79952432-chr5:79962559..79966205,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000189127	Chromatin interaction
ENSG00000228716	Chromatin interaction
ENSG00000113318	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10036264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10052238	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10054574	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10057770	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10072026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10077031	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10078190	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10474631	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10474632	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs11741448	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11742668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11742720	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11749051	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13355622	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56270084	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6151599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6151606	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6151640	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6151655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453522	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67695365	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72765574	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72765575	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv10710	chr5:79956446-79964949	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79951600-79969200	Weak transcription	Stomach Mucosa	stomach
2	chr5:79951600-79972200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:79951600-80015600	Weak transcription	Small Intestine	intestine
4	chr5:79951800-79982800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:79952200-79975400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:79952400-79965000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr5:79952400-79967400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr5:79952400-79975400	Weak transcription	HSMMtube	muscle
9	chr5:79952400-79976600	Strong transcription	Fetal Thymus	thymus
10	chr5:79952400-79976800	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr5:79952400-79983000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:79952600-79965000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:79952600-79985200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr5:79952600-79991600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:79952800-79972200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr5:79953000-79966400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:79953200-79965200	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr5:79953200-79980800	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr5:79953800-79969800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr5:79955400-79968800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:79956200-79979000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:79956400-80015600	Weak transcription	Psoas Muscle	Psoas
23	chr5:79957600-79964600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr5:79957800-79964800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:79958200-79968800	Weak transcription	Brain Anterior Caudate	brain
26	chr5:79958200-79971600	Strong transcription	Fetal Muscle Leg	muscle
27	chr5:79958200-79998000	Weak transcription	Fetal Brain Male	brain
28	chr5:79958800-79969800	Strong transcription	Primary T cells from cord blood	blood
29	chr5:79959200-79964800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:79959400-79965200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:79959800-79964600	Strong transcription	Stomach Smooth Muscle	stomach
32	chr5:79961000-79964800	Strong transcription	Ovary	ovary
33	chr5:79961000-79970200	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr5:79961200-79966400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:79961200-79977000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr5:79961400-79965000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:79961400-79967200	Weak transcription	K562	blood
38	chr5:79961400-79968400	Weak transcription	HUVEC	blood vessel
39	chr5:79961400-79968400	Weak transcription	NHDF-Ad	bronchial
40	chr5:79961600-79965600	Weak transcription	Hela-S3	cervix
41	chr5:79961600-79974000	Weak transcription	Colon Smooth Muscle	Colon
42	chr5:79962000-79969800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr5:79962400-79964800	Genic enhancers	Adipose Nuclei	Adipose
44	chr5:79962400-79964800	Strong transcription	Gastric	stomach
45	chr5:79962400-79964800	Strong transcription	Lung	lung
46	chr5:79962400-79965000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr5:79962600-79966000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr5:79962600-79966000	Weak transcription	HSMM	muscle
49	chr5:79962800-79965200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:79962800-79968400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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