Variant report

Variant	rs56146803
Chromosome Location	chr6:143050996-143050997
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12192768	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12199482	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs169098	0.82[EUR][1000 genomes]
rs197475	0.82[EUR][1000 genomes]
rs197477	0.82[EUR][1000 genomes]
rs197482	0.88[EUR][1000 genomes]
rs197491	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3383	0.83[EUR][1000 genomes]
rs3850224	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3850225	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3900201	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895597	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4896592	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4896593	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs517096	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57584479	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7349872	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9373358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9376706	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9390022	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	nsv949088	chr6:142561402-143128849	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv830828	chr6:142970134-143116517	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143046400-143051000	Weak transcription	Aorta	Aorta
2	chr6:143048000-143051000	Enhancers	Fetal Intestine Small	intestine
3	chr6:143048000-143051200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:143048000-143051600	Enhancers	Fetal Intestine Large	intestine
5	chr6:143048600-143051800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr6:143048800-143052600	Weak transcription	Placenta	Placenta
7	chr6:143049000-143052000	Enhancers	Primary hematopoietic stem cells	blood
8	chr6:143049200-143052200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr6:143049400-143051000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr6:143049400-143056600	Weak transcription	Esophagus	oesophagus
11	chr6:143049600-143051000	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr6:143049600-143051000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:143049800-143073200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:143050000-143058200	Weak transcription	NHEK	skin
15	chr6:143050000-143061600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:143050200-143051000	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr6:143050200-143051000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr6:143050200-143051400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:143050400-143058000	Weak transcription	Pancreas	Pancrea
20	chr6:143050600-143051000	Enhancers	Primary T cells from cord blood	blood
21	chr6:143050600-143051000	Enhancers	Duodenum Mucosa	Duodenum
22	chr6:143050600-143051000	Enhancers	Thymus	Thymus
23	chr6:143050600-143051000	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr6:143050600-143051200	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr6:143050600-143051600	Weak transcription	Small Intestine	intestine
26	chr6:143050600-143052200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:143050600-143058600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:143050800-143051200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr6:143050800-143051200	Enhancers	HUVEC	blood vessel
30	chr6:143050800-143058600	Weak transcription	NHDF-Ad	bronchial

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