Variant report

Variant	rs4838595
Chromosome Location	chr10:49675247-49675248
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:49674949-49675561	U87	brain:	n/a	n/a
2	RCOR1	chr10:49675044-49675397	K562	blood:	n/a	n/a
3	POLR2A	chr10:49675007-49675508	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:49639661..49642619-chr10:49674798..49676427,2	K562	blood:

Variant related genes	Relation type
ARHGAP22	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1051507	0.82[JPT][hapmap]
rs10857575	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10857576	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10857579	0.81[CHB][hapmap];0.82[CHD][hapmap]
rs10857580	0.81[CHB][hapmap];0.82[CHD][hapmap]
rs11101332	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11101334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11101335	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12766232	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12784663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1867578	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1867579	0.82[JPT][hapmap]
rs2034199	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2289805	0.80[CEU][hapmap]
rs2377351	0.81[JPT][hapmap]
rs2889611	0.82[JPT][hapmap]
rs4342982	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4838594	0.82[JPT][hapmap]
rs4838596	0.82[ASW][hapmap];0.89[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4838600	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv467191	chr10:49669142-49735563	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv550813	chr10:49669142-49735563	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv3376035	chr10:49673571-49676119	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3348914	chr10:49673721-49675819	Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4838595	MAPK8	cis	cerebellum	SCAN
rs4838595	GPRIN2	cis	cerebellum	SCAN

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49655200-49677800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr10:49657800-49677600	Weak transcription	HSMMtube	muscle
3	chr10:49668400-49676200	Weak transcription	NHLF	lung
4	chr10:49671000-49680400	Enhancers	Primary hematopoietic stem cells	blood
5	chr10:49671200-49675400	Enhancers	Brain Hippocampus Middle	brain
6	chr10:49671400-49675600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr10:49672400-49675400	Enhancers	Brain Substantia Nigra	brain
8	chr10:49672400-49677200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr10:49672400-49683400	Weak transcription	Spleen	Spleen
10	chr10:49672600-49681800	Weak transcription	Aorta	Aorta
11	chr10:49673000-49681200	Weak transcription	HSMM	muscle
12	chr10:49673600-49675400	Enhancers	NHDF-Ad	bronchial
13	chr10:49673600-49677600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr10:49673800-49676200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr10:49674000-49675400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr10:49674200-49676200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr10:49674400-49675400	Active TSS	Brain Cingulate Gyrus	brain
18	chr10:49675000-49675400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr10:49675000-49675400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr10:49675000-49675400	Enhancers	HMEC	breast
21	chr10:49675000-49675400	Enhancers	HUVEC	blood vessel
22	chr10:49675000-49675400	Genic enhancers	K562	blood
23	chr10:49675000-49675400	Enhancers	NHEK	skin
24	chr10:49675000-49675600	Bivalent Enhancer	Fetal Stomach	stomach
25	chr10:49675000-49676200	Weak transcription	Ovary	ovary
26	chr10:49675000-49678000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr10:49675000-49678400	Weak transcription	Right Atrium	heart
28	chr10:49675000-49679800	Enhancers	Fetal Thymus	thymus
29	chr10:49675200-49675400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
30	chr10:49675200-49675400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr10:49675200-49675400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr10:49675200-49675400	Enhancers	Fetal Intestine Small	intestine
33	chr10:49675200-49675400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
34	chr10:49675200-49675600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
35	chr10:49675200-49675600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr10:49675200-49675600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr10:49675200-49676800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr10:49675200-49677000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr10:49675200-49677400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr10:49675200-49677400	Weak transcription	Esophagus	oesophagus
41	chr10:49675200-49677600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr10:49675200-49677800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr10:49675200-49677800	Weak transcription	Left Ventricle	heart
44	chr10:49675200-49677800	Weak transcription	Right Ventricle	heart
45	chr10:49675200-49678200	Weak transcription	Brain Anterior Caudate	brain
46	chr10:49675200-49678200	Weak transcription	NH-A	brain
47	chr10:49675200-49678400	Strong transcription	Osteobl	bone
48	chr10:49675200-49678800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr10:49675200-49679400	Enhancers	Fetal Intestine Large	intestine
50	chr10:49675200-49680000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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