Variant report

Variant	rs1892071
Chromosome Location	chr1:223858618-223858619
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:223305268..223307186-chr1:223856777..223859694,2	K562	blood:
2	chr1:223840739..223843292-chr1:223856581..223858792,2	MCF-7	breast:
3	chr1:223819090..223819750-chr1:223857938..223858740,2	MCF-7	breast:
4	chr1:223836208..223847031-chr1:223849408..223858826,22	MCF-7	breast:
5	chr1:223815914..223816546-chr1:223857853..223858702,2	K562	blood:
6	chr1:223857293..223858818-chr1:223866737..223869584,2	K562	blood:
7	chr1:223705052..223705694-chr1:223858308..223858811,2	K562	blood:
8	chr1:223838928..223839586-chr1:223857876..223858715,2	MCF-7	breast:
9	chr1:223852049..223854014-chr1:223857086..223858680,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000203697	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10753427	1.00[AMR][1000 genomes]
rs10799364	1.00[AMR][1000 genomes]
rs10915854	1.00[AMR][1000 genomes]
rs10916015	1.00[AMR][1000 genomes]
rs1222144	1.00[AMR][1000 genomes]
rs1361915	1.00[AMR][1000 genomes]
rs1539703	1.00[AMR][1000 genomes]
rs16842210	1.00[AMR][1000 genomes]
rs16842251	1.00[AMR][1000 genomes]
rs1857549	1.00[AMR][1000 genomes]
rs1892074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1892075	1.00[AMR][1000 genomes]
rs1977898	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2000317	1.00[AMR][1000 genomes]
rs2096343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2154115	1.00[AMR][1000 genomes]
rs2186005	1.00[AMR][1000 genomes]
rs2404288	1.00[AMR][1000 genomes]
rs25655	1.00[AMR][1000 genomes]
rs28370086	1.00[AMR][1000 genomes]
rs28370105	1.00[AMR][1000 genomes]
rs28370108	1.00[AMR][1000 genomes]
rs4653792	1.00[AMR][1000 genomes]
rs4653866	1.00[AMR][1000 genomes]
rs4653869	1.00[AMR][1000 genomes]
rs6422641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6688648	1.00[AMR][1000 genomes]
rs7538151	1.00[AMR][1000 genomes]
rs7554290	1.00[AMR][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	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv873211	chr1:223707647-223867631	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223855400-223859600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:223855800-223865800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:223856800-223862200	Weak transcription	Pancreas	Pancrea
4	chr1:223857000-223858800	Weak transcription	Colonic Mucosa	Colon
5	chr1:223857400-223859400	Enhancers	NHDF-Ad	bronchial
6	chr1:223858200-223858800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr1:223858200-223859000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:223858400-223858800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr1:223858400-223858800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr1:223858400-223858800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:223858400-223858800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:223858600-223858800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:223858600-223858800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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