Variant report

Variant	rs7539162
Chromosome Location	chr1:171878160-171878161
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10465518	1.00[EUR][1000 genomes]
rs10910941	1.00[AMR][1000 genomes]
rs12059659	1.00[EUR][1000 genomes]
rs12059900	1.00[AMR][1000 genomes]
rs12060632	1.00[AMR][1000 genomes]
rs12062104	1.00[AMR][1000 genomes]
rs12067192	1.00[AMR][1000 genomes]
rs12070381	1.00[AMR][1000 genomes]
rs12071915	1.00[AMR][1000 genomes]
rs12072055	1.00[AMR][1000 genomes]
rs12075392	1.00[AMR][1000 genomes]
rs12083356	1.00[AMR][1000 genomes]
rs12089487	1.00[AMR][1000 genomes]
rs12093037	1.00[AMR][1000 genomes]
rs12093751	1.00[AMR][1000 genomes]
rs12097783	1.00[AMR][1000 genomes]
rs13353039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16843624	1.00[AMR][1000 genomes]
rs16843652	1.00[EUR][1000 genomes]
rs16843714	1.00[EUR][1000 genomes]
rs16843740	1.00[EUR][1000 genomes]
rs16843770	1.00[EUR][1000 genomes]
rs16843814	1.00[EUR][1000 genomes]
rs16843874	1.00[EUR][1000 genomes]
rs56813784	1.00[EUR][1000 genomes]
rs56888227	1.00[EUR][1000 genomes]
rs58009573	1.00[EUR][1000 genomes]
rs58346902	1.00[EUR][1000 genomes]
rs59671783	1.00[EUR][1000 genomes]
rs60165186	1.00[EUR][1000 genomes]
rs60893096	1.00[EUR][1000 genomes]
rs61510803	1.00[EUR][1000 genomes]
rs6663676	1.00[AMR][1000 genomes]
rs6668588	1.00[AMR][1000 genomes]
rs7541042	1.00[EUR][1000 genomes]
rs9724787	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	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv831893	chr1:171802450-171985000	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171862200-171882600	Weak transcription	Aorta	Aorta
2	chr1:171868600-171880800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:171868800-171884000	Weak transcription	Fetal Lung	lung
4	chr1:171868800-171885000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:171869400-171879400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:171871200-171879000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:171872200-171883000	Weak transcription	Lung	lung
8	chr1:171872600-171879400	Weak transcription	NHEK	skin
9	chr1:171872600-171879600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:171874000-171878600	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:171874200-171878800	Weak transcription	Brain Angular Gyrus	brain
12	chr1:171874600-171879000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:171874600-171879600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:171874800-171878800	Weak transcription	Brain Anterior Caudate	brain
15	chr1:171876800-171879600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:171877800-171878800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr1:171877800-171879800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:171878000-171878200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr1:171878000-171878200	Enhancers	Brain Substantia Nigra	brain
20	chr1:171878000-171878800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:171878000-171878800	Enhancers	Small Intestine	intestine
22	chr1:171878000-171880200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr1:171878000-171880200	Enhancers	Brain Cingulate Gyrus	brain
24	chr1:171878000-171880400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr1:171878000-171880400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:171878000-171881000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:171878000-171881000	Enhancers	HSMMtube	muscle

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