Variant report

Variant	rs6473144
Chromosome Location	chr8:51365441-51365442
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10090266	0.85[CHB][hapmap]
rs10090468	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10101856	0.85[CHB][hapmap]
rs1017841	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10808829	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs10957914	0.81[CHB][hapmap]
rs10957915	0.92[CHB][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10957916	0.92[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1114500	0.81[CHB][hapmap]
rs11775411	0.89[CEU][hapmap];0.91[CHB][hapmap];0.88[YRI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11783146	0.95[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11995834	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap]
rs12216754	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs12541766	0.85[CHB][hapmap]
rs12545254	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12546744	0.93[EUR][1000 genomes]
rs12546758	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.87[EUR][1000 genomes]
rs13248847	0.87[EUR][1000 genomes]
rs13258865	0.88[CEU][hapmap];0.81[CHB][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13266691	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13274680	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1383818	1.00[CHB][hapmap];0.88[YRI][hapmap]
rs1383820	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1471577	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1471578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1481469	0.85[CHB][hapmap]
rs1481472	0.87[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1481475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1481476	0.85[CHB][hapmap]
rs1481477	0.85[CHB][hapmap]
rs1483636	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1483644	0.81[CHB][hapmap]
rs1483645	0.81[EUR][1000 genomes]
rs1542613	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1542615	0.87[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs192844	1.00[CHB][hapmap];0.89[YRI][hapmap];0.80[ASN][1000 genomes]
rs1967007	0.82[AMR][1000 genomes]
rs1971259	0.87[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2062038	0.93[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2068238	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.87[EUR][1000 genomes]
rs2128000	0.81[CHB][hapmap]
rs2251415	0.81[CHB][hapmap]
rs2392627	0.92[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2392699	0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2467205	0.81[CHB][hapmap]
rs2623207	0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.81[EUR][1000 genomes]
rs2623215	0.81[EUR][1000 genomes]
rs2623224	0.87[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap]
rs2625736	0.81[CHB][hapmap]
rs2625739	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2625750	0.81[EUR][1000 genomes]
rs2625751	0.81[EUR][1000 genomes]
rs2625753	0.81[EUR][1000 genomes]
rs310557	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs310558	0.81[CHB][hapmap]
rs310562	0.82[YRI][hapmap]
rs310570	0.89[CEU][hapmap]
rs310574	0.86[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap]
rs310576	0.83[YRI][hapmap]
rs3919897	0.85[CHB][hapmap]
rs4440649	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs4442158	0.81[CHB][hapmap]
rs4538902	0.85[CHB][hapmap]
rs4577970	1.00[CHB][hapmap];0.82[YRI][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4873147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4873149	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4873457	0.92[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4873458	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4873459	0.89[CEU][hapmap];0.81[CHB][hapmap];0.98[EUR][1000 genomes]
rs6473124	0.85[CHB][hapmap]
rs6983589	0.93[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7007612	0.86[EUR][1000 genomes]
rs7015139	0.92[CHB][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7817955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826421	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap]
rs7827319	0.81[CHB][hapmap]
rs7836540	0.83[ASN][1000 genomes]
rs7842092	0.93[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9298323	0.92[CHB][hapmap];0.84[YRI][hapmap];0.91[ASN][1000 genomes]
rs9643435	0.85[CHB][hapmap]
rs9650165	0.92[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9650166	0.93[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs996523	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap]
rs996524	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916392	chr8:50827638-51395140	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv948436	chr8:51115028-51917504	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv831312	chr8:51239772-51422844	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv916262	chr8:51322341-51437077	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51361800-51365600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr8:51363600-51365800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:51364000-51365800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
4	chr8:51364200-51365600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr8:51364800-51366200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:51364800-51369800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:51365000-51365600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr8:51365000-51365800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
9	chr8:51365400-51365600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
10	chr8:51365400-51365600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell

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