Variant report

Variant	rs10914039
Chromosome Location	chr1:180529511-180529512
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10913989	1.00[AMR][1000 genomes]
rs10913993	1.00[AMR][1000 genomes]
rs10913997	1.00[AMR][1000 genomes]
rs10914015	1.00[AMR][1000 genomes]
rs10914025	1.00[AMR][1000 genomes]
rs10914026	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12060882	1.00[AMR][1000 genomes]
rs12065345	1.00[AMR][1000 genomes]
rs12065470	1.00[AMR][1000 genomes]
rs12068605	1.00[AMR][1000 genomes]
rs12076376	1.00[AMR][1000 genomes]
rs12078865	1.00[AMR][1000 genomes]
rs12080367	1.00[AMR][1000 genomes]
rs12080976	1.00[AMR][1000 genomes]
rs12091034	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12095564	1.00[AMR][1000 genomes]
rs12096761	1.00[AMR][1000 genomes]
rs12098212	1.00[AMR][1000 genomes]
rs12354363	1.00[AMR][1000 genomes]
rs16856167	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73051243	1.00[AMR][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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180516600-180536800	Weak transcription	Psoas Muscle	Psoas
2	chr1:180521800-180530200	Weak transcription	Right Atrium	heart
3	chr1:180525200-180534400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:180529000-180529600	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr1:180529000-180531800	Enhancers	K562	blood
6	chr1:180529200-180529600	Enhancers	Fetal Intestine Large	intestine
7	chr1:180529200-180529800	Enhancers	Fetal Intestine Small	intestine
8	chr1:180529200-180530000	Enhancers	HepG2	liver
9	chr1:180529200-180530400	Enhancers	Duodenum Mucosa	Duodenum
10	chr1:180529200-180530400	Flanking Active TSS	A549	lung
11	chr1:180529200-180530400	Enhancers	HSMM	muscle
12	chr1:180529200-180530800	Enhancers	Hela-S3	cervix
13	chr1:180529200-180530800	Enhancers	NH-A	brain
14	chr1:180529200-180531000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:180529200-180531000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:180529200-180531000	Enhancers	HMEC	breast
17	chr1:180529200-180532800	Enhancers	HSMMtube	muscle
18	chr1:180529200-180533000	Enhancers	Osteobl	bone
19	chr1:180529400-180529600	Enhancers	Left Ventricle	heart
20	chr1:180529400-180529600	Enhancers	Pancreas	Pancrea
21	chr1:180529400-180529800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:180529400-180529800	Enhancers	Stomach Mucosa	stomach
23	chr1:180529400-180530000	Enhancers	Fetal Brain Female	brain
24	chr1:180529400-180530200	Flanking Active TSS	Fetal Heart	heart
25	chr1:180529400-180530800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:180529400-180531000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:180529400-180531200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:180529400-180532800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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