Variant report

Variant	rs7543237
Chromosome Location	chr1:216704535-216704536
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10495026	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10863248	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10863249	0.83[ASN][1000 genomes]
rs11117609	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11117610	0.86[ASN][1000 genomes]
rs11117611	0.83[ASN][1000 genomes]
rs11572810	0.86[ASN][1000 genomes]
rs12089635	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12117150	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12118392	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12125859	0.86[ASN][1000 genomes]
rs12144650	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1498285	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1498286	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1846226	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6604629	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6604630	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6604631	0.83[ASN][1000 genomes]
rs6604632	0.83[ASN][1000 genomes]
rs6678548	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6678856	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6679193	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6679623	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6680913	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6683007	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6683442	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6695067	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549199	chr1:216384908-216814702	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1003815	chr1:216504235-216836498	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv535289	chr1:216504235-216836498	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1008939	chr1:216688284-216712570	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216673200-216704600	Weak transcription	Pancreas	Pancrea
2	chr1:216680600-216704600	Weak transcription	Left Ventricle	heart
3	chr1:216692600-216705200	Weak transcription	Placenta	Placenta
4	chr1:216697400-216704600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:216697400-216704600	Weak transcription	Fetal Heart	heart
6	chr1:216701200-216704800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:216701400-216704600	Weak transcription	Gastric	stomach
8	chr1:216702400-216704600	Weak transcription	Fetal Intestine Large	intestine
9	chr1:216702600-216704600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:216702600-216704600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:216702800-216704600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:216703000-216704600	Weak transcription	Fetal Intestine Small	intestine
13	chr1:216703800-216704600	Flanking Active TSS	Liver	Liver
14	chr1:216704000-216704600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr1:216704200-216704600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr1:216704200-216704600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr1:216704200-216704600	Enhancers	Brain Germinal Matrix	brain
18	chr1:216704200-216704600	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr1:216704200-216705200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:216704200-216705400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:216704200-216705600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:216704200-216705600	Active TSS	NHDF-Ad	bronchial
23	chr1:216704200-216706200	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr1:216704400-216704600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:216704400-216704600	Active TSS	Adipose Nuclei	Adipose
26	chr1:216704400-216704600	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr1:216704400-216704600	Enhancers	Brain Substantia Nigra	brain
28	chr1:216704400-216704600	Bivalent Enhancer	Fetal Brain Male	brain
29	chr1:216704400-216704600	Enhancers	Fetal Brain Female	brain
30	chr1:216704400-216704600	Flanking Active TSS	Fetal Lung	lung
31	chr1:216704400-216704600	Flanking Active TSS	HSMMtube	muscle
32	chr1:216704400-216704600	Flanking Active TSS	NHLF	lung
33	chr1:216704400-216704800	Enhancers	H9 Cell Line	embryonic stem cell
34	chr1:216704400-216704800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr1:216704400-216704800	Flanking Active TSS	Fetal Kidney	kidney
36	chr1:216704400-216704800	Flanking Active TSS	GM12878-XiMat	blood
37	chr1:216704400-216705200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr1:216704400-216705200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:216704400-216705200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:216704400-216705200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:216704400-216705400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr1:216704400-216705400	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr1:216704400-216705400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:216704400-216705400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:216704400-216705400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:216704400-216705400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:216704400-216705400	Active TSS	Fetal Stomach	stomach
48	chr1:216704400-216705400	Active TSS	Ovary	ovary
49	chr1:216704400-216705400	Active TSS	Rectal Smooth Muscle	rectum
50	chr1:216704400-216705400	Active TSS	Stomach Mucosa	stomach

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