Variant report

Variant	rs12731010
Chromosome Location	chr1:114144746-114144747
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10127930	0.86[EUR][1000 genomes]
rs10489936	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1080307	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12723023	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12730675	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12730735	0.84[EUR][1000 genomes]
rs12731969	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12734625	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12735104	0.85[EUR][1000 genomes]
rs12739970	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12746609	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12748727	0.85[EUR][1000 genomes]
rs12752932	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12753075	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12753351	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12758546	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12760457	0.85[EUR][1000 genomes]
rs13374352	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17274550	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17274620	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17274634	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17359302	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17462614	0.84[EUR][1000 genomes]
rs17508163	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17508814	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17509390	0.85[EUR][1000 genomes]
rs1885454	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2040040	0.86[EUR][1000 genomes]
rs2359173	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2359174	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34042871	0.86[EUR][1000 genomes]
rs34258372	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34341173	0.85[EUR][1000 genomes]
rs34649199	0.86[EUR][1000 genomes]
rs34698891	0.81[EUR][1000 genomes]
rs34799402	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34877889	0.84[EUR][1000 genomes]
rs35320278	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35383900	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35836713	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36115604	0.85[EUR][1000 genomes]
rs3747998	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3748003	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3761931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3789595	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3789607	0.85[EUR][1000 genomes]
rs3789609	0.84[EUR][1000 genomes]
rs4581284	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55855422	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56257513	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61817579	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61817586	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61817617	0.86[EUR][1000 genomes]
rs61819423	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61819424	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61820162	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6668829	0.86[EUR][1000 genomes]
rs6674848	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs66782936	0.95[ASN][1000 genomes]
rs6703387	0.85[EUR][1000 genomes]
rs71662837	0.82[AMR][1000 genomes]
rs7533605	0.85[EUR][1000 genomes]
rs7549685	0.83[EUR][1000 genomes]
rs7555354	0.85[EUR][1000 genomes]
rs9803891	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012324	chr1:114135133-114206843	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114100600-114173400	Weak transcription	Gastric	stomach
2	chr1:114119200-114145200	Weak transcription	Lung	lung
3	chr1:114119200-114172400	Weak transcription	Pancreas	Pancrea
4	chr1:114119200-114173000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:114124400-114172400	Weak transcription	Aorta	Aorta
6	chr1:114126600-114157200	Weak transcription	HUVEC	blood vessel
7	chr1:114134600-114166400	Weak transcription	Hela-S3	cervix
8	chr1:114136800-114158800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:114137000-114145200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:114139800-114157400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:114139800-114160000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:114140000-114157400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:114140400-114157800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:114140600-114145400	Weak transcription	A549	lung
15	chr1:114140600-114150600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:114140600-114151000	Weak transcription	Ovary	ovary
17	chr1:114140600-114157000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:114140600-114162200	Weak transcription	NHDF-Ad	bronchial
19	chr1:114140600-114172800	Weak transcription	Colonic Mucosa	Colon
20	chr1:114140800-114145200	Weak transcription	Fetal Stomach	stomach
21	chr1:114140800-114162600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr1:114141000-114145200	Weak transcription	Fetal Intestine Small	intestine
23	chr1:114141000-114157800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:114141000-114162600	Weak transcription	Fetal Intestine Large	intestine
25	chr1:114141200-114145000	Weak transcription	Fetal Brain Female	brain
26	chr1:114141200-114156800	Weak transcription	Fetal Heart	heart
27	chr1:114141200-114162200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr1:114141400-114157000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:114141400-114162400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:114141600-114150600	Weak transcription	Liver	Liver
31	chr1:114141800-114145000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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