Variant report

Variant	rs12750945
Chromosome Location	chr1:97804547-97804548
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]
rs10875070	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10875071	0.85[ASN][1000 genomes]
rs11165865	0.83[EUR][1000 genomes]
rs12022799	0.83[EUR][1000 genomes]
rs12024103	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12030174	0.83[EUR][1000 genomes]
rs12038518	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12039093	0.83[EUR][1000 genomes]
rs12040045	0.83[EUR][1000 genomes]
rs12046771	0.85[ASN][1000 genomes]
rs12047456	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12048663	0.81[EUR][1000 genomes]
rs12070583	0.83[EUR][1000 genomes]
rs4434871	0.83[EUR][1000 genomes]
rs6690620	0.83[EUR][1000 genomes]
rs74104367	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs74104372	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74104373	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74105110	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74105111	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74105145	0.83[EUR][1000 genomes]
rs74105146	0.83[EUR][1000 genomes]
rs74105150	0.83[EUR][1000 genomes]
rs74105153	0.83[EUR][1000 genomes]
rs7512213	0.83[EUR][1000 genomes]
rs7555294	0.81[ASN][1000 genomes]
rs9783115	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[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	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv530048	chr1:97457175-98031501	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007950	chr1:97466488-98021146	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv533039	chr1:97665736-98343102	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 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	chr1:97780600-97807200	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr1:97781600-97822200	Weak transcription	Primary T cells from cord blood	blood
3	chr1:97789800-97823600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:97791800-97823600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:97792800-97820800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:97794600-97848200	Weak transcription	Left Ventricle	heart
7	chr1:97795600-97823600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:97795600-97830000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:97799000-97807600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:97800800-97806600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:97801000-97806400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:97801000-97806400	Weak transcription	HSMM	muscle
13	chr1:97801000-97806600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:97801000-97806600	Weak transcription	HSMMtube	muscle
15	chr1:97801200-97806600	Weak transcription	Fetal Heart	heart
16	chr1:97801200-97806600	Weak transcription	NHDF-Ad	bronchial
17	chr1:97801200-97822400	Weak transcription	Primary B cells from cord blood	blood
18	chr1:97801800-97806400	Weak transcription	Osteobl	bone
19	chr1:97802200-97823200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:97802200-97848600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:97803200-97806600	Weak transcription	NH-A	brain
22	chr1:97803200-97807000	Weak transcription	Ovary	ovary
23	chr1:97803200-97843200	Weak transcription	Spleen	Spleen
24	chr1:97803600-97806400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:97803600-97806600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:97804000-97806400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:97804200-97823400	Weak transcription	Esophagus	oesophagus
28	chr1:97804400-97806600	Weak transcription	Monocytes-CD14+_RO01746	blood

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