Variant report

Variant	rs72896619
Chromosome Location	chr4:110342808-110342809
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 132 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs10000545	0.98[ASN][1000 genomes]
rs10002595	0.98[ASN][1000 genomes]
rs10005355	0.94[ASN][1000 genomes]
rs10155127	0.94[ASN][1000 genomes]
rs10516557	1.00[EUR][1000 genomes]
rs10516558	0.94[ASN][1000 genomes]
rs11098033	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11098035	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11929713	0.94[ASN][1000 genomes]
rs11930655	0.90[ASN][1000 genomes]
rs11933971	0.98[ASN][1000 genomes]
rs11934486	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11935440	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11935629	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11937053	1.00[EUR][1000 genomes]
rs11938593	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11941344	0.98[ASN][1000 genomes]
rs11941636	1.00[EUR][1000 genomes]
rs11942140	0.92[ASN][1000 genomes]
rs11942291	0.90[ASN][1000 genomes]
rs11942858	0.98[ASN][1000 genomes]
rs11942928	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11943384	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11943430	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11944375	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11944427	0.96[ASN][1000 genomes]
rs11944659	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12639832	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12639835	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12640049	0.92[ASN][1000 genomes]
rs12640161	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12642304	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12643055	0.94[ASN][1000 genomes]
rs12643844	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12643881	1.00[EUR][1000 genomes]
rs12644055	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12647695	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12648138	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12648965	0.94[ASN][1000 genomes]
rs12650654	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12650873	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13103034	0.98[ASN][1000 genomes]
rs13123618	0.98[ASN][1000 genomes]
rs13125368	0.90[ASN][1000 genomes]
rs13128124	0.94[ASN][1000 genomes]
rs13134239	0.94[ASN][1000 genomes]
rs13141701	0.94[ASN][1000 genomes]
rs13142698	1.00[ASN][1000 genomes]
rs13143825	0.94[ASN][1000 genomes]
rs13145066	0.94[ASN][1000 genomes]
rs1509314	0.96[ASN][1000 genomes]
rs1509315	0.98[ASN][1000 genomes]
rs17040410	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17040436	0.98[ASN][1000 genomes]
rs17040439	0.98[ASN][1000 genomes]
rs17040446	1.00[EUR][1000 genomes]
rs17040454	0.93[EUR][1000 genomes]
rs17040461	0.98[ASN][1000 genomes]
rs17040488	0.94[ASN][1000 genomes]
rs17040510	0.94[ASN][1000 genomes]
rs17040519	0.93[EUR][1000 genomes]
rs28521972	0.90[ASN][1000 genomes]
rs28527792	0.93[EUR][1000 genomes]
rs28611124	0.93[EUR][1000 genomes]
rs28681408	0.94[ASN][1000 genomes]
rs34153531	0.94[ASN][1000 genomes]
rs34224638	0.94[ASN][1000 genomes]
rs34274964	0.94[ASN][1000 genomes]
rs34377662	0.87[ASN][1000 genomes]
rs34441811	0.98[ASN][1000 genomes]
rs34482781	0.98[ASN][1000 genomes]
rs34636377	0.87[ASN][1000 genomes]
rs34836476	0.98[ASN][1000 genomes]
rs35110951	0.94[ASN][1000 genomes]
rs35359830	0.98[ASN][1000 genomes]
rs35473144	0.90[ASN][1000 genomes]
rs35594044	0.94[ASN][1000 genomes]
rs35762958	0.94[ASN][1000 genomes]
rs35791246	0.98[ASN][1000 genomes]
rs35940980	0.94[ASN][1000 genomes]
rs36009064	0.90[ASN][1000 genomes]
rs36115572	0.94[ASN][1000 genomes]
rs3775962	0.94[ASN][1000 genomes]
rs60957336	0.98[ASN][1000 genomes]
rs61004219	0.98[ASN][1000 genomes]
rs61242473	0.92[ASN][1000 genomes]
rs61439452	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61553525	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6533428	0.86[ASN][1000 genomes]
rs6533429	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66642182	0.98[ASN][1000 genomes]
rs66667140	0.94[ASN][1000 genomes]
rs67473696	0.92[ASN][1000 genomes]
rs68041341	0.94[ASN][1000 genomes]
rs6812469	0.94[ASN][1000 genomes]
rs6815455	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6817954	0.94[ASN][1000 genomes]
rs6818911	0.94[ASN][1000 genomes]
rs6821051	0.81[EUR][1000 genomes]
rs6821221	0.81[EUR][1000 genomes]
rs6823032	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6827006	0.94[ASN][1000 genomes]
rs6833753	0.92[ASN][1000 genomes]
rs6835683	0.94[ASN][1000 genomes]
rs6837199	0.94[ASN][1000 genomes]
rs6841198	0.94[ASN][1000 genomes]
rs6845371	0.94[ASN][1000 genomes]
rs6848452	0.94[ASN][1000 genomes]
rs6851517	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6852037	0.94[ASN][1000 genomes]
rs6856291	0.94[ASN][1000 genomes]
rs6856446	0.94[ASN][1000 genomes]
rs71603033	0.87[ASN][1000 genomes]
rs72892766	0.80[EUR][1000 genomes]
rs72896622	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72896625	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72896629	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72896632	0.92[ASN][1000 genomes]
rs73838809	0.94[ASN][1000 genomes]
rs7436583	0.96[ASN][1000 genomes]
rs7436745	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7440371	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7440570	0.98[ASN][1000 genomes]
rs7675602	0.94[ASN][1000 genomes]
rs7679836	0.94[ASN][1000 genomes]
rs9985632	0.94[ASN][1000 genomes]
rs9994676	0.94[ASN][1000 genomes]
rs9994985	0.94[ASN][1000 genomes]
rs9999570	0.94[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	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv1793428	chr4:110340134-110355591	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110328800-110353600	Weak transcription	Brain Germinal Matrix	brain
2	chr4:110333200-110352800	Weak transcription	Fetal Intestine Small	intestine
3	chr4:110333400-110345400	Weak transcription	Fetal Stomach	stomach
4	chr4:110333800-110353400	Weak transcription	HSMM	muscle
5	chr4:110334400-110351600	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:110340200-110343800	Weak transcription	Right Atrium	heart
7	chr4:110340800-110343800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:110341000-110343400	Weak transcription	Fetal Kidney	kidney
9	chr4:110341200-110343800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:110341400-110343000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr4:110341400-110343200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:110341400-110343400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:110341400-110343400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:110341400-110350000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:110341600-110343200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:110341600-110343400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr4:110341600-110343400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:110341600-110343400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr4:110341600-110353200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:110341800-110343800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr4:110341800-110345200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:110342200-110353600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr4:110342600-110343000	Weak transcription	H9 Cell Line	embryonic stem cell

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