Variant report

Variant	rs57311690
Chromosome Location	chr1:186123695-186123696
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:186123615..186126375-chr1:186164064..186165601,2	MCF-7	breast:
2	chr1:186123425..186125569-chr1:186132539..186134337,2	K562	blood:
3	chr1:186120629..186123040-chr1:186123514..186126316,2	MCF-7	breast:
4	chr1:186104080..186106275-chr1:186123344..186125828,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143341	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs59391265	0.83[AMR][1000 genomes]
rs61012118	1.00[AFR][1000 genomes]
rs74136003	1.00[AFR][1000 genomes]
rs74136007	1.00[AFR][1000 genomes]
rs74136020	0.83[AMR][1000 genomes]
rs74136022	0.83[AMR][1000 genomes]
rs74136029	0.83[AMR][1000 genomes]
rs74136032	0.83[AMR][1000 genomes]
rs74136040	0.83[AMR][1000 genomes]
rs74136042	1.00[AMR][1000 genomes]
rs74136044	0.83[AMR][1000 genomes]
rs74136049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74136050	1.00[AMR][1000 genomes]
rs74136052	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186046400-186135200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:186109200-186124600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:186113200-186124200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:186113800-186135800	Weak transcription	Ovary	ovary
5	chr1:186114600-186160800	Weak transcription	Fetal Kidney	kidney
6	chr1:186115400-186135400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:186116400-186135400	Weak transcription	Aorta	Aorta
8	chr1:186116600-186135400	Weak transcription	Lung	lung
9	chr1:186117200-186135800	Weak transcription	Fetal Lung	lung
10	chr1:186120000-186135200	Weak transcription	Liver	Liver
11	chr1:186120200-186124600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:186120800-186125800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:186122000-186123800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:186122200-186124000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:186122200-186124000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:186122200-186124000	Weak transcription	NHDF-Ad	bronchial
17	chr1:186122200-186124000	Weak transcription	Osteobl	bone
18	chr1:186122200-186124200	Weak transcription	A549	lung
19	chr1:186122200-186124400	Weak transcription	NH-A	brain
20	chr1:186122200-186125600	Enhancers	HMEC	breast
21	chr1:186122200-186135600	Weak transcription	K562	blood
22	chr1:186122400-186123800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:186122800-186123800	Strong transcription	Adipose Nuclei	Adipose
24	chr1:186123000-186124000	Weak transcription	Hela-S3	cervix
25	chr1:186123000-186124400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:186123000-186125800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:186123200-186124600	Weak transcription	NHEK	skin
28	chr1:186123400-186125200	Enhancers	NHLF	lung
29	chr1:186123600-186124200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:186123600-186125200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links