Variant report

Variant	rs183757
Chromosome Location	chr16:58758346-58758347
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	chr16:58754816..58757724-chr16:58758002..58760013,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1058192	0.88[EUR][1000 genomes]
rs11076262	0.96[CEU][hapmap];0.91[GIH][hapmap];0.97[TSI][hapmap]
rs12595974	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs12598527	0.89[CHB][hapmap]
rs12600201	0.89[CHB][hapmap]
rs12600206	0.89[CHB][hapmap]
rs14221	0.92[EUR][1000 genomes]
rs1436429	0.80[EUR][1000 genomes]
rs1595181	0.96[CEU][hapmap];0.89[GIH][hapmap];0.97[TSI][hapmap]
rs1615326	0.89[CHB][hapmap];0.92[CHD][hapmap];0.83[JPT][hapmap]
rs1646267	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1646270	0.82[ASN][1000 genomes]
rs1657162	0.80[ASN][1000 genomes]
rs171786	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs173992	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs185397	0.96[CEU][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs187277	0.92[EUR][1000 genomes]
rs190473	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs257616	0.96[CEU][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs257617	0.92[EUR][1000 genomes]
rs257618	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257619	0.92[EUR][1000 genomes]
rs257620	0.96[CEU][hapmap];1.00[TSI][hapmap]
rs257621	0.92[CEU][hapmap];0.97[TSI][hapmap];0.92[EUR][1000 genomes]
rs257630	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[CHD][hapmap];0.80[JPT][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs257631	0.92[EUR][1000 genomes]
rs257632	0.92[EUR][1000 genomes]
rs257633	0.92[EUR][1000 genomes]
rs257634	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257636	0.88[EUR][1000 genomes]
rs257637	0.92[EUR][1000 genomes]
rs257638	0.89[EUR][1000 genomes]
rs6993	0.89[JPT][hapmap]
rs863944	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758427	chr16:58579005-58876037	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2758650	chr16:58579005-58876037	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv510686	chr16:58646119-58765894	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1065296	chr16:58738198-58837859	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	n/a
5	nsv1065269	chr16:58743487-58972224	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs183757	GOT2	cis	cerebellum	SCAN
rs183757	GOT2	cis	Skin Sun Exposed Lower leg	GTEx
rs183757	GOT2	cis	Thyroid	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:58738400-58759800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr16:58738400-58766600	Weak transcription	Stomach Mucosa	stomach
3	chr16:58739200-58758400	Strong transcription	Primary T cells from cord blood	blood
4	chr16:58739200-58759000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr16:58739200-58759600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr16:58739400-58758400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr16:58739600-58758400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr16:58739800-58759200	Strong transcription	Dnd41	blood
9	chr16:58739800-58759800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr16:58740400-58759000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr16:58743400-58759000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr16:58745000-58758400	Strong transcription	Left Ventricle	heart
13	chr16:58745200-58758400	Strong transcription	Osteobl	bone
14	chr16:58747800-58767000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr16:58749600-58759000	Strong transcription	Lung	lung
16	chr16:58752600-58766600	Weak transcription	NHLF	lung
17	chr16:58753000-58766000	Weak transcription	Small Intestine	intestine
18	chr16:58753200-58765600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr16:58753200-58766400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr16:58753200-58766600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr16:58753200-58766800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:58753400-58766400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr16:58754000-58761000	Weak transcription	Pancreas	Pancrea
24	chr16:58754000-58766800	Weak transcription	Esophagus	oesophagus
25	chr16:58754600-58758400	Strong transcription	Primary hematopoietic stem cells	blood
26	chr16:58754600-58758800	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr16:58755200-58766800	Weak transcription	Fetal Lung	lung
28	chr16:58755400-58761400	Weak transcription	Psoas Muscle	Psoas
29	chr16:58755400-58766800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr16:58755600-58761400	Weak transcription	Fetal Heart	heart
31	chr16:58755600-58764200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr16:58755600-58766400	Weak transcription	Fetal Brain Male	brain
33	chr16:58756200-58761000	Weak transcription	Right Ventricle	heart
34	chr16:58756200-58764200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr16:58756200-58766800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr16:58756200-58766800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr16:58756200-58766800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr16:58756400-58761600	Weak transcription	Spleen	Spleen
39	chr16:58756400-58766400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr16:58756600-58759000	Strong transcription	K562	blood
41	chr16:58757000-58766200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr16:58757000-58766600	Weak transcription	Colonic Mucosa	Colon
43	chr16:58757000-58767400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr16:58757200-58761600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr16:58757200-58766600	Weak transcription	Brain Germinal Matrix	brain
46	chr16:58757400-58761400	Weak transcription	Fetal Kidney	kidney
47	chr16:58757400-58765600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr16:58757400-58766200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr16:58757600-58761600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr16:58757600-58761600	Weak transcription	GM12878-XiMat	blood

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