Variant report

Variant	rs1070794
Chromosome Location	chr1:95046367-95046368
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:95044875..95047288-chr1:95048137..95050937,2	MCF-7	breast:
2	chr1:95043796..95046993-chr1:95048870..95051582,3	K562	blood:
3	chr1:95043796..95046691-chr1:95048870..95051582,2	K562	blood:
4	chr1:95006436..95008771-chr1:95043871..95046807,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117525	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1098716	0.91[AFR][1000 genomes]
rs1098719	0.91[AFR][1000 genomes]
rs1098721	0.91[AFR][1000 genomes]
rs1098722	0.91[AFR][1000 genomes]
rs841676	0.98[AFR][1000 genomes]
rs841677	0.98[AFR][1000 genomes]
rs841683	0.93[AFR][1000 genomes]
rs841707	0.87[AFR][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	nsv531881	chr1:94937444-95053785	Weak transcription Bivalent Enhancer Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv870696	chr1:95005220-95081587	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv871391	chr1:95005220-95083836	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
5	nsv871279	chr1:95028981-95083836	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95044200-95046600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:95044200-95047000	Enhancers	NHEK	skin
3	chr1:95044200-95048400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:95044400-95047000	Enhancers	NHLF	lung
5	chr1:95044400-95048200	Enhancers	Placenta Amnion	Placenta Amnion
6	chr1:95044400-95048400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:95044400-95048400	Enhancers	HMEC	breast
8	chr1:95044600-95046400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:95044600-95046400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:95044600-95046400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:95044600-95046400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:95044600-95046400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:95044600-95046400	Flanking Active TSS	Hela-S3	cervix
14	chr1:95044600-95046800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:95044600-95047000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:95044600-95047400	Enhancers	HSMMtube	muscle
17	chr1:95044800-95046400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr1:95044800-95046400	Enhancers	Placenta	Placenta
19	chr1:95044800-95046400	Enhancers	Osteobl	bone
20	chr1:95045000-95046400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:95045000-95046400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:95045000-95046400	Enhancers	Aorta	Aorta
23	chr1:95045000-95046400	Enhancers	NHDF-Ad	bronchial
24	chr1:95045200-95046400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr1:95045200-95046400	Flanking Active TSS	HepG2	liver
26	chr1:95045400-95046400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr1:95045600-95046400	Flanking Active TSS	NH-A	brain
28	chr1:95046000-95065400	Weak transcription	Fetal Intestine Large	intestine

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