Variant report

Variant	rs6702184
Chromosome Location	chr1:186595558-186595559
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10489396	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs16825618	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2383513	0.90[AFR][1000 genomes]
rs2383514	0.90[AFR][1000 genomes]
rs3851883	1.00[EUR][1000 genomes]
rs3918304	1.00[EUR][1000 genomes]
rs41393449	1.00[EUR][1000 genomes]
rs4648274	1.00[EUR][1000 genomes]
rs56294639	1.00[EUR][1000 genomes]
rs56693185	1.00[EUR][1000 genomes]
rs57219691	1.00[EUR][1000 genomes]
rs57550992	1.00[EUR][1000 genomes]
rs58362718	1.00[EUR][1000 genomes]
rs58767753	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61403154	1.00[EUR][1000 genomes]
rs6661312	1.00[EUR][1000 genomes]
rs6672847	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6675113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74134715	1.00[EUR][1000 genomes]
rs74134721	1.00[EUR][1000 genomes]
rs74134723	1.00[EUR][1000 genomes]
rs7555943	1.00[EUR][1000 genomes]
rs9803769	1.00[EUR][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	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv832059	chr1:186464932-186639125	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186587800-186596200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:186588200-186595800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:186591200-186596200	Weak transcription	Osteobl	bone
4	chr1:186591800-186596200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:186592600-186602000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:186592800-186597000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:186593200-186600200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr1:186594800-186595600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:186594800-186595800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:186594800-186596200	Enhancers	Stomach Smooth Muscle	stomach
11	chr1:186594800-186596600	Enhancers	Primary hematopoietic stem cells	blood
12	chr1:186594800-186596600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr1:186594800-186596800	Enhancers	HUVEC	blood vessel
14	chr1:186594800-186597400	Enhancers	Colon Smooth Muscle	Colon
15	chr1:186595200-186599000	Enhancers	Rectal Smooth Muscle	rectum
16	chr1:186595400-186595800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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