Variant report

Variant	rs1992417
Chromosome Location	chr4:143736804-143736805
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:143728679..143731015-chr4:143735952..143738151,2	MCF-7	breast:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10024696	0.84[EUR][1000 genomes]
rs10519666	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857399	0.84[EUR][1000 genomes]
rs11723982	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11724017	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11726381	0.84[AMR][1000 genomes]
rs11933763	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12233703	0.82[EUR][1000 genomes]
rs12509304	0.88[AMR][1000 genomes]
rs12640389	0.84[EUR][1000 genomes]
rs13117185	0.84[EUR][1000 genomes]
rs1373031	0.84[EUR][1000 genomes]
rs1441411	0.80[ASN][1000 genomes]
rs1441417	0.86[ASN][1000 genomes]
rs1443183	0.84[EUR][1000 genomes]
rs1443187	0.89[EUR][1000 genomes]
rs1444949	0.81[AMR][1000 genomes]
rs1465962	0.84[EUR][1000 genomes]
rs17016768	0.84[AMR][1000 genomes]
rs17016777	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17016779	0.88[AMR][1000 genomes]
rs17016789	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17732408	0.84[AMR][1000 genomes]
rs17732791	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1822360	0.84[EUR][1000 genomes]
rs1822361	0.84[EUR][1000 genomes]
rs1838082	0.84[EUR][1000 genomes]
rs1867214	0.84[EUR][1000 genomes]
rs1961836	0.82[EUR][1000 genomes]
rs1965828	0.84[EUR][1000 genomes]
rs1992418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1992652	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2589994	0.84[EUR][1000 genomes]
rs3113593	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs331939	0.84[EUR][1000 genomes]
rs331940	0.83[EUR][1000 genomes]
rs331942	0.84[EUR][1000 genomes]
rs331944	0.81[AMR][1000 genomes]
rs331945	0.81[AMR][1000 genomes]
rs331946	0.81[AMR][1000 genomes]
rs331947	0.81[AMR][1000 genomes]
rs331951	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs331960	0.82[AMR][1000 genomes]
rs331962	0.81[AMR][1000 genomes]
rs331964	0.81[AMR][1000 genomes]
rs331965	0.81[AMR][1000 genomes]
rs34831472	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4690726	0.84[EUR][1000 genomes]
rs56011189	0.81[AMR][1000 genomes]
rs56332157	0.81[AMR][1000 genomes]
rs60263370	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6537127	0.81[EUR][1000 genomes]
rs6823627	0.81[AMR][1000 genomes]
rs6839158	0.80[ASN][1000 genomes]
rs6846609	0.82[AMR][1000 genomes]
rs72728641	0.84[AMR][1000 genomes]
rs72728649	0.84[AMR][1000 genomes]
rs72728651	0.84[AMR][1000 genomes]
rs72728654	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72728667	0.88[AMR][1000 genomes]
rs72728681	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72728686	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728700	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72730409	0.82[ASN][1000 genomes]
rs73850583	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7667183	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7668552	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7668786	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7679151	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7685997	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7688275	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7695461	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[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	nsv880174	chr4:143639498-143848024	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143698800-143738600	Weak transcription	Aorta	Aorta
2	chr4:143724000-143737000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:143731800-143738400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:143732000-143744600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr4:143732600-143737200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr4:143732600-143738600	Weak transcription	Esophagus	oesophagus
7	chr4:143732600-143745000	Weak transcription	Left Ventricle	heart
8	chr4:143732600-143749600	Weak transcription	Right Ventricle	heart
9	chr4:143733800-143737000	Weak transcription	Dnd41	blood
10	chr4:143735000-143738400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:143735400-143738400	Weak transcription	Fetal Heart	heart
12	chr4:143735800-143738400	Weak transcription	Colon Smooth Muscle	Colon
13	chr4:143736000-143740600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:143736200-143738400	Enhancers	NHDF-Ad	bronchial
15	chr4:143736400-143738600	Weak transcription	Small Intestine	intestine
16	chr4:143736400-143739000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:143736600-143737000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:143736600-143737800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:143736600-143738400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:143736600-143739000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr4:143736600-143739000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr4:143736600-143739000	Enhancers	Osteobl	bone
23	chr4:143736800-143737400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:143736800-143738400	Enhancers	Hela-S3	cervix
25	chr4:143736800-143739000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:143736800-143739000	Enhancers	Primary hematopoietic stem cells	blood

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