Variant report

Variant	rs4953579
Chromosome Location	chr2:48686310-48686311
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48684437..48686849-chr2:48687895..48689698,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs3811522	0.82[YRI][hapmap]
rs4293602	0.87[JPT][hapmap]
rs4356705	0.85[ASN][1000 genomes]
rs4497915	0.84[CHB][hapmap];0.83[CHD][hapmap];0.82[ASN][1000 genomes]
rs4528813	0.86[CHB][hapmap]
rs4953572	0.86[JPT][hapmap]
rs7606562	0.83[LWK][hapmap]

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	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv581775	chr2:48619869-48714938	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4953579	STON1,GTF2A1L,FLJ46838,STON1-GTF2A1L	cis	brain	BrainEAC
rs4953579	STON1-GTF2A1L	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48669200-48698200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:48669400-48693800	Weak transcription	Hela-S3	cervix
3	chr2:48669600-48694200	Weak transcription	Fetal Brain Male	brain
4	chr2:48671800-48692400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:48673000-48686800	Weak transcription	Pancreas	Pancrea
6	chr2:48673000-48697400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:48673200-48724000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:48674800-48687000	Weak transcription	Small Intestine	intestine
9	chr2:48675800-48687800	Weak transcription	Fetal Kidney	kidney
10	chr2:48676200-48686600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:48676200-48692000	Weak transcription	Psoas Muscle	Psoas
12	chr2:48676800-48688000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:48677600-48686800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:48677800-48687200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:48677800-48699600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:48678000-48696400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:48678200-48688000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr2:48678200-48696400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:48678200-48698800	Strong transcription	Fetal Thymus	thymus
20	chr2:48678200-48700000	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr2:48678400-48688200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:48678400-48688600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:48678400-48695600	Strong transcription	Dnd41	blood
24	chr2:48678400-48699400	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr2:48678400-48699400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr2:48678800-48695600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:48678800-48696200	Strong transcription	Duodenum Mucosa	Duodenum
28	chr2:48678800-48696400	Strong transcription	Fetal Muscle Trunk	muscle
29	chr2:48679000-48688000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:48679000-48696400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:48679000-48696600	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:48679200-48686800	Weak transcription	Stomach Mucosa	stomach
33	chr2:48679200-48695800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr2:48679200-48696200	Strong transcription	Primary T cells from cord blood	blood
35	chr2:48679400-48687000	Weak transcription	HSMMtube	muscle
36	chr2:48679600-48693800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:48679600-48697800	Weak transcription	Fetal Heart	heart
38	chr2:48680000-48686800	Weak transcription	NH-A	brain
39	chr2:48680000-48696200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr2:48680000-48706200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr2:48680400-48695800	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr2:48680800-48696600	Strong transcription	Liver	Liver
43	chr2:48681000-48691600	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr2:48681000-48696400	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr2:48681200-48699400	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr2:48681600-48695400	Strong transcription	HepG2	liver
47	chr2:48681600-48696200	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr2:48681600-48696200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:48681600-48696200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr2:48681600-48696400	Strong transcription	Fetal Intestine Large	intestine

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