Variant report

Variant	rs10798779
Chromosome Location	chr1:180540922-180540923
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180530731..180535452-chr1:180539258..180542430,4	K562	blood:
2	chr1:180535652..180538329-chr1:180539867..180543816,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10798782	0.83[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs10914041	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12028578	0.92[ASN][1000 genomes]
rs12032249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12562357	0.89[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs4097353	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9803871	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9804047	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][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	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180536200-180543200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:180537200-180541400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:180537200-180541400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:180537400-180541600	Weak transcription	Fetal Intestine Large	intestine
5	chr1:180538600-180543400	Weak transcription	Fetal Brain Female	brain
6	chr1:180539400-180542200	Enhancers	K562	blood
7	chr1:180539600-180542200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:180539600-180542200	Enhancers	HMEC	breast
9	chr1:180539600-180542200	Enhancers	HSMMtube	muscle
10	chr1:180539600-180542200	Enhancers	NHEK	skin
11	chr1:180539600-180546200	Weak transcription	Left Ventricle	heart
12	chr1:180539800-180542000	Weak transcription	Fetal Brain Male	brain
13	chr1:180540000-180541000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:180540000-180541200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:180540000-180541400	Enhancers	NHDF-Ad	bronchial
16	chr1:180540000-180541600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:180540000-180541600	Enhancers	NHLF	lung
18	chr1:180540000-180542000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:180540000-180542200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:180540200-180541200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:180540400-180541000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:180540400-180541200	Flanking Active TSS	Osteobl	bone
23	chr1:180540400-180541800	Enhancers	Right Ventricle	heart
24	chr1:180540600-180542200	Enhancers	Esophagus	oesophagus
25	chr1:180540600-180543400	Weak transcription	Fetal Heart	heart
26	chr1:180540600-180543400	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr1:180540800-180541000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:180540800-180541000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr1:180540800-180541000	Weak transcription	A549	lung
30	chr1:180540800-180541000	Enhancers	HSMM	muscle
31	chr1:180540800-180541200	Enhancers	NH-A	brain
32	chr1:180540800-180542200	Enhancers	Stomach Mucosa	stomach
33	chr1:180540800-180542200	Enhancers	Hela-S3	cervix
34	chr1:180540800-180542800	Enhancers	Duodenum Mucosa	Duodenum
35	chr1:180540800-180543400	Enhancers	Pancreas	Pancrea
36	chr1:180540800-180543600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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