Variant report

Variant	rs7532508
Chromosome Location	chr1:85880468-85880469
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10782548	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17127710	0.87[ASN][1000 genomes]
rs233046	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233051	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs233080	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs233087	0.89[ASN][1000 genomes]
rs233111	0.90[CEU][hapmap];0.81[CHB][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233128	0.90[CEU][hapmap];0.82[CHB][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34278923	0.89[ASN][1000 genomes]
rs4949904	0.84[ASN][1000 genomes]
rs591917	1.00[CEU][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs648216	1.00[CEU][hapmap];0.87[EUR][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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1008877	chr1:85843238-85897570	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85873400-85882800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr1:85873600-85885000	Weak transcription	Fetal Intestine Large	intestine
3	chr1:85873800-85882000	Weak transcription	Fetal Intestine Small	intestine
4	chr1:85873800-85885400	Weak transcription	Fetal Stomach	stomach
5	chr1:85873800-85887600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:85874000-85903800	Weak transcription	NHLF	lung
7	chr1:85874200-85903600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:85874400-85903600	Weak transcription	HepG2	liver
9	chr1:85874400-85904200	Weak transcription	NH-A	brain
10	chr1:85875000-85882800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:85875400-85885600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:85877200-85885600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:85877400-85882400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:85877600-85882400	Weak transcription	Psoas Muscle	Psoas
15	chr1:85877600-85882800	Weak transcription	Aorta	Aorta
16	chr1:85877600-85882800	Weak transcription	Pancreas	Pancrea
17	chr1:85877600-85882800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr1:85877600-85885800	Weak transcription	HSMMtube	muscle
19	chr1:85877800-85882600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:85878000-85883800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:85878200-85880600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:85878200-85882600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:85878400-85883000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:85878800-85880600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:85879000-85882800	Weak transcription	Ovary	ovary
26	chr1:85879200-85885600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:85879800-85880600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:85880000-85882000	Weak transcription	HSMM	muscle
29	chr1:85880200-85880600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr1:85880200-85882600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr1:85880400-85882400	Weak transcription	HUVEC	blood vessel
32	chr1:85880400-85884400	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:85880400-85884400	Weak transcription	NHDF-Ad	bronchial
34	chr1:85880400-85887600	Weak transcription	Osteobl	bone

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