Variant report

Variant	rs74136047
Chromosome Location	chr1:186109428-186109429
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186058150..186059707-chr1:186108819..186111468,2	K562	blood:
2	chr1:186109391..186111607-chr1:186111701..186113475,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs6700242	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs74136027	0.89[AMR][1000 genomes]
rs74136038	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74136048	0.89[AMR][1000 genomes]
rs7536998	0.89[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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186046400-186135200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:186052200-186118200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:186064600-186113200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:186073000-186121400	Weak transcription	NH-A	brain
5	chr1:186075000-186113600	Weak transcription	Lung	lung
6	chr1:186080400-186121400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:186100000-186113200	Weak transcription	Left Ventricle	heart
8	chr1:186100000-186113400	Weak transcription	Aorta	Aorta
9	chr1:186107200-186115000	Weak transcription	Adipose Nuclei	Adipose
10	chr1:186107400-186114600	Weak transcription	Liver	Liver
11	chr1:186107600-186113400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:186107800-186109600	Enhancers	Osteobl	bone
13	chr1:186108000-186109800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:186108000-186109800	Enhancers	NHDF-Ad	bronchial
15	chr1:186108000-186115800	Weak transcription	Fetal Lung	lung
16	chr1:186108400-186109800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:186108600-186109600	Enhancers	NHLF	lung
18	chr1:186109000-186121400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:186109200-186124600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:186109400-186109600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:186109400-186110000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:186109400-186121200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links