Variant report

Variant	rs12647695
Chromosome Location	chr4:110334582-110334583
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 130 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs10000545	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10002595	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10005355	0.90[ASN][1000 genomes]
rs10028250	0.81[ASN][1000 genomes]
rs10155127	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10516557	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs10516558	0.90[ASN][1000 genomes]
rs11098033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11098035	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11929713	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11930655	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11933971	0.94[ASN][1000 genomes]
rs11934486	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11935440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11935629	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11937053	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs11938593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11941344	0.94[ASN][1000 genomes]
rs11941636	0.85[EUR][1000 genomes]
rs11942140	0.96[ASN][1000 genomes]
rs11942291	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11942858	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11942928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11943384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11943430	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11944375	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11944427	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11944659	0.96[ASN][1000 genomes]
rs12639832	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12639835	0.85[EUR][1000 genomes]
rs12640049	0.96[ASN][1000 genomes]
rs12640161	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12642304	0.90[ASN][1000 genomes]
rs12643055	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12643844	0.90[ASN][1000 genomes]
rs12643881	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12644055	0.82[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12648138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12648965	1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs12650654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12650873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13103034	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13123618	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13125368	0.86[ASN][1000 genomes]
rs13128124	0.90[ASN][1000 genomes]
rs13134239	0.90[ASN][1000 genomes]
rs13141701	0.90[ASN][1000 genomes]
rs13142698	1.00[CHB][hapmap];0.85[JPT][hapmap];0.96[ASN][1000 genomes]
rs13143825	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs13145066	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1509314	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1509315	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17040410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17040436	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17040439	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17040446	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs17040454	1.00[CEU][hapmap]
rs17040461	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17040488	0.90[ASN][1000 genomes]
rs17040510	0.86[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs17585970	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17619262	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28521972	0.86[ASN][1000 genomes]
rs28681408	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs34153531	0.90[ASN][1000 genomes]
rs34224638	0.90[ASN][1000 genomes]
rs34274964	0.90[ASN][1000 genomes]
rs34377662	0.83[ASN][1000 genomes]
rs34441811	0.94[ASN][1000 genomes]
rs34482781	0.94[ASN][1000 genomes]
rs34636377	0.83[ASN][1000 genomes]
rs34836476	0.94[ASN][1000 genomes]
rs35110951	0.90[ASN][1000 genomes]
rs35359830	0.94[ASN][1000 genomes]
rs35473144	0.86[ASN][1000 genomes]
rs35594044	0.90[ASN][1000 genomes]
rs35762958	0.90[ASN][1000 genomes]
rs35791246	0.94[ASN][1000 genomes]
rs35940980	0.90[ASN][1000 genomes]
rs36009064	0.86[ASN][1000 genomes]
rs36115572	0.90[ASN][1000 genomes]
rs3775962	0.90[ASN][1000 genomes]
rs60957336	0.94[ASN][1000 genomes]
rs61004219	0.94[ASN][1000 genomes]
rs61242473	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61439452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61553525	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6533428	0.95[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6533429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66642182	0.94[ASN][1000 genomes]
rs66667140	0.90[ASN][1000 genomes]
rs67473696	0.88[ASN][1000 genomes]
rs68041341	0.90[ASN][1000 genomes]
rs6812469	0.90[ASN][1000 genomes]
rs6815455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6817954	0.90[ASN][1000 genomes]
rs6818911	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6823032	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6827006	0.90[ASN][1000 genomes]
rs6833753	0.88[ASN][1000 genomes]
rs6835683	0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6837199	0.98[ASN][1000 genomes]
rs6841198	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6845371	0.90[ASN][1000 genomes]
rs6848452	0.98[ASN][1000 genomes]
rs6851517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6852037	0.90[ASN][1000 genomes]
rs6856291	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6856446	0.90[ASN][1000 genomes]
rs71603033	0.83[ASN][1000 genomes]
rs72896619	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72896622	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72896625	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72896629	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72896632	0.88[ASN][1000 genomes]
rs73838809	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7436583	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7436745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7440371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7440570	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7675602	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7679836	0.90[ASN][1000 genomes]
rs7687245	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9985632	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9985964	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9994676	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9994985	0.90[ASN][1000 genomes]
rs9999570	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[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	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

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110328800-110353600	Weak transcription	Brain Germinal Matrix	brain
2	chr4:110330400-110339600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr4:110330800-110335800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:110332200-110335400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:110332400-110335600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:110332400-110340400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:110332600-110335200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:110332800-110336000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr4:110333200-110352800	Weak transcription	Fetal Intestine Small	intestine
10	chr4:110333400-110345400	Weak transcription	Fetal Stomach	stomach
11	chr4:110333600-110334600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:110333800-110334600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:110333800-110334800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr4:110333800-110335000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:110333800-110353400	Weak transcription	HSMM	muscle
16	chr4:110334000-110334800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:110334200-110335800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr4:110334400-110334600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:110334400-110335800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr4:110334400-110351600	Weak transcription	Fetal Muscle Leg	muscle

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