Variant report

Variant	rs73242624
Chromosome Location	chr4:57847420-57847421
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	chr4:57771524..57779492-chr4:57841270..57849741,26	K562	blood:
2	chr4:57772839..57777394-chr4:57841397..57848240,17	K562	blood:

Variant related genes	Relation type
ENSG00000084093	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10003229	0.82[EUR][1000 genomes]
rs1277287	0.86[EUR][1000 genomes]
rs1277288	0.86[EUR][1000 genomes]
rs1296634	0.87[ASN][1000 genomes]
rs1315005	0.85[EUR][1000 genomes]
rs1315006	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1401190	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1614251	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1625691	0.87[EUR][1000 genomes]
rs1630798	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1713978	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1713983	0.84[EUR][1000 genomes]
rs1713984	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1713997	0.84[EUR][1000 genomes]
rs1713998	1.00[ASN][1000 genomes]
rs1718837	0.85[EUR][1000 genomes]
rs1718865	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718868	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718869	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718875	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1718882	0.82[EUR][1000 genomes]
rs1718888	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412770	0.82[EUR][1000 genomes]
rs2687238	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708547	0.83[EUR][1000 genomes]
rs7676521	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs781667	0.81[EUR][1000 genomes]
rs781670	0.81[EUR][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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 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	chr4:57846000-57848000	Enhancers	Brain Substantia Nigra	brain
2	chr4:57846000-57848400	Weak transcription	Gastric	stomach
3	chr4:57846000-57849400	Enhancers	Brain Angular Gyrus	brain
4	chr4:57846000-57852000	Weak transcription	Aorta	Aorta
5	chr4:57846000-57853600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:57846000-57855600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:57846000-57881000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:57846200-57847600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr4:57846200-57847600	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr4:57846200-57847600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr4:57846200-57847600	Enhancers	Fetal Muscle Trunk	muscle
12	chr4:57846200-57847800	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr4:57846200-57848400	Enhancers	Liver	Liver
14	chr4:57846200-57848400	Enhancers	Fetal Brain Male	brain
15	chr4:57846200-57848400	Enhancers	Fetal Lung	lung
16	chr4:57846200-57849000	Flanking Active TSS	HUVEC	blood vessel
17	chr4:57846200-57849400	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr4:57846200-57850800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr4:57846200-57851400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr4:57846200-57851800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr4:57846200-57851800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:57846200-57851800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:57846200-57853000	Weak transcription	Fetal Kidney	kidney
24	chr4:57846200-57853600	Weak transcription	Esophagus	oesophagus
25	chr4:57846200-57861600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr4:57846200-57861800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr4:57846400-57847600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:57846400-57847600	Enhancers	Primary hematopoietic stem cells	blood
29	chr4:57846400-57847600	Enhancers	Left Ventricle	heart
30	chr4:57846400-57847800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:57846400-57848000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:57846400-57848200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:57846400-57848400	Enhancers	Brain Hippocampus Middle	brain
34	chr4:57846400-57848400	Enhancers	Fetal Heart	heart
35	chr4:57846400-57848400	Enhancers	Fetal Intestine Large	intestine
36	chr4:57846400-57848600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:57846400-57849000	Weak transcription	Psoas Muscle	Psoas
38	chr4:57846400-57849400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr4:57846400-57849800	Enhancers	Primary T cells fromperipheralblood	blood
40	chr4:57846600-57847600	Enhancers	Pancreas	Pancrea
41	chr4:57846600-57848600	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr4:57846600-57848800	Genic enhancers	Fetal Intestine Small	intestine
43	chr4:57846600-57849000	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr4:57846600-57849400	Enhancers	Small Intestine	intestine
45	chr4:57846600-57850000	Genic enhancers	Primary T cells from cord blood	blood
46	chr4:57846600-57851800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr4:57846600-57852200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr4:57846600-57853200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr4:57846600-57861200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr4:57846800-57847600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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