Variant report

Variant	rs868763
Chromosome Location	chr4:15755905-15755906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10222984	0.80[AMR][1000 genomes]
rs10516292	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11724635	0.86[CHB][hapmap]
rs12651314	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2286879	0.85[CHB][hapmap];0.82[EUR][1000 genomes]
rs3893376	0.80[AMR][1000 genomes]
rs4263397	0.91[CHB][hapmap]
rs4266290	0.85[CHB][hapmap]
rs4613561	0.85[CHB][hapmap]
rs4698120	0.95[CHB][hapmap];0.83[CHD][hapmap];0.88[MKK][hapmap];0.84[ASN][1000 genomes]
rs4698412	0.86[CHB][hapmap]
rs4698413	0.86[CHB][hapmap]
rs6852450	0.84[CHB][hapmap]
rs884474	0.99[AMR][1000 genomes];1.00[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	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs868763	CC2D2A	cis	cerebellum	SCAN
rs868763	CD38	cis	parietal	SCAN
rs868763	FAM184B	cis	parietal	SCAN
rs868763	HS3ST1	cis	cerebellum	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15752600-15767600	Weak transcription	Fetal Intestine Small	intestine
2	chr4:15754800-15756000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr4:15754800-15757200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:15754800-15757400	Enhancers	Primary hematopoietic stem cells	blood
5	chr4:15755000-15756000	Enhancers	Fetal Muscle Leg	muscle
6	chr4:15755000-15756200	Enhancers	Adipose Nuclei	Adipose
7	chr4:15755000-15756600	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr4:15755000-15757200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr4:15755000-15757200	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr4:15755000-15757800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr4:15755000-15757800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:15755000-15758400	Enhancers	HUVEC	blood vessel
13	chr4:15755200-15756200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:15755200-15756200	Enhancers	Spleen	Spleen
15	chr4:15755200-15756200	Enhancers	Hela-S3	cervix
16	chr4:15755200-15756200	Enhancers	NH-A	brain
17	chr4:15755200-15756800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr4:15755200-15757200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr4:15755200-15757600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr4:15755200-15757800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr4:15755200-15757800	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr4:15755200-15757800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr4:15755200-15757800	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr4:15755400-15756000	Flanking Active TSS	Fetal Thymus	thymus
25	chr4:15755400-15756200	Enhancers	Osteobl	bone
26	chr4:15755400-15757400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr4:15755400-15757800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr4:15755400-15757800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr4:15755600-15756200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:15755600-15756200	Flanking Active TSS	Thymus	Thymus
31	chr4:15755600-15756400	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr4:15755600-15756400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
33	chr4:15755600-15756400	Enhancers	GM12878-XiMat	blood
34	chr4:15755600-15757800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:15755600-15759000	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr4:15755600-15760400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:15755800-15756000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr4:15755800-15756400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:15755800-15756600	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr4:15755800-15757600	Enhancers	Primary B cells from cord blood	blood
41	chr4:15755800-15758000	Enhancers	Primary B cells from peripheral blood	blood
42	chr4:15755800-15759200	Flanking Active TSS	Dnd41	blood

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