Variant report

Variant	rs2421949
Chromosome Location	chr1:171878522-171878523
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12121064	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123946	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12130277	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133814	0.93[ASN][1000 genomes]
rs12134649	0.87[ASN][1000 genomes]
rs12135871	1.00[ASN][1000 genomes]
rs12136630	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12137824	1.00[ASN][1000 genomes]
rs12137825	1.00[ASN][1000 genomes]
rs12140482	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12140603	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12141726	1.00[ASN][1000 genomes]
rs12141865	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12143501	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3817923	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61805807	1.00[ASN][1000 genomes]
rs6673009	1.00[ASN][1000 genomes]
rs74126507	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74126515	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74126524	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74126528	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543247	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][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:29 , 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	chr1:171878000-171878800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:171878000-171878800	Enhancers	Small Intestine	intestine
20	chr1:171878000-171880200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr1:171878000-171880200	Enhancers	Brain Cingulate Gyrus	brain
22	chr1:171878000-171880400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr1:171878000-171880400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:171878000-171881000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:171878000-171881000	Enhancers	HSMMtube	muscle
26	chr1:171878200-171878600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:171878200-171878600	Weak transcription	Brain Substantia Nigra	brain
28	chr1:171878200-171880200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr1:171878400-171879400	Weak transcription	H1 Cell Line	embryonic stem cell

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