Variant report

Variant	rs72680432
Chromosome Location	chr4:121772135-121772136
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10006287	0.87[ASN][1000 genomes]
rs1015219	0.88[ASN][1000 genomes]
rs10518380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11943025	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12499872	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12501569	0.82[AFR][1000 genomes]
rs12501914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12503895	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12507367	0.82[AMR][1000 genomes]
rs12510578	0.90[ASN][1000 genomes]
rs12511422	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12639719	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12639772	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12640648	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12644850	0.86[ASN][1000 genomes]
rs12644883	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12648660	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1397771	0.87[ASN][1000 genomes]
rs1450461	0.91[ASN][1000 genomes]
rs1470695	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1511302	0.85[ASN][1000 genomes]
rs1511314	0.82[AFR][1000 genomes]
rs1588524	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1597491	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs168226	0.91[ASN][1000 genomes]
rs17051252	0.85[ASN][1000 genomes]
rs17051254	0.85[ASN][1000 genomes]
rs17051259	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17051271	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17051275	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs171068	0.91[ASN][1000 genomes]
rs1809075	0.91[ASN][1000 genomes]
rs2167208	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2667171	0.91[ASN][1000 genomes]
rs28488919	0.87[ASN][1000 genomes]
rs28810489	0.87[ASN][1000 genomes]
rs343182	0.88[ASN][1000 genomes]
rs343185	0.91[ASN][1000 genomes]
rs343189	0.91[ASN][1000 genomes]
rs3806807	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3827584	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4833187	0.82[AFR][1000 genomes]
rs4833688	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4833689	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57023921	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72678319	0.85[ASN][1000 genomes]
rs72678324	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72678335	0.87[ASN][1000 genomes]
rs72680418	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72680433	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680442	0.82[AFR][1000 genomes]
rs72680445	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680451	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72680462	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72680468	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72680474	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72680476	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72680477	0.90[ASN][1000 genomes]
rs72680480	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72680484	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72680490	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72680497	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72680498	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs896060	0.91[ASN][1000 genomes]
rs994831	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1013704	chr4:121657648-121791601	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121755800-121774600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr4:121756800-121779800	Weak transcription	Aorta	Aorta
3	chr4:121758200-121774600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:121759600-121775400	Weak transcription	Gastric	stomach
5	chr4:121760400-121775800	Weak transcription	Lung	lung
6	chr4:121761200-121778200	Weak transcription	Fetal Muscle Leg	muscle
7	chr4:121761200-121783600	Weak transcription	Pancreas	Pancrea
8	chr4:121761400-121774600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:121761400-121777600	Weak transcription	Left Ventricle	heart
10	chr4:121763400-121778800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:121763600-121776600	Weak transcription	Fetal Stomach	stomach
12	chr4:121763800-121776600	Weak transcription	Fetal Heart	heart
13	chr4:121765800-121786600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:121766000-121776600	Weak transcription	Fetal Intestine Small	intestine
15	chr4:121766000-121786600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:121766200-121790800	Weak transcription	Ovary	ovary
17	chr4:121766400-121776600	Weak transcription	Fetal Intestine Large	intestine
18	chr4:121769000-121774600	Weak transcription	Fetal Kidney	kidney
19	chr4:121769000-121779600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:121769200-121779600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr4:121769600-121772200	Enhancers	NHDF-Ad	bronchial
22	chr4:121770200-121772200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:121770800-121772200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:121771000-121777000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:121771400-121781200	Weak transcription	HSMM	muscle
26	chr4:121771600-121774200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:121771600-121774400	Weak transcription	NHLF	lung
28	chr4:121771600-121783200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr4:121771800-121774000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:121771800-121774000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr4:121771800-121774000	Weak transcription	Osteobl	bone
32	chr4:121771800-121774400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:121771800-121774800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:121771800-121779600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:121771800-121786800	Weak transcription	Fetal Lung	lung

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