Variant report

Variant	rs1393903
Chromosome Location	chr8:68421170-68421171
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1032815	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10957388	0.90[EUR][1000 genomes]
rs11776371	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11779485	0.82[EUR][1000 genomes]
rs11779486	0.82[EUR][1000 genomes]
rs11780191	0.82[EUR][1000 genomes]
rs11781706	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13251265	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13263838	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13271535	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13276447	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13278805	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1393898	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1393899	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1393900	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1393901	0.90[EUR][1000 genomes]
rs1393902	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1503363	0.84[EUR][1000 genomes]
rs1503364	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1503365	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1503366	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1503368	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1503369	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16933333	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17429185	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1827524	0.90[EUR][1000 genomes]
rs1875714	0.90[EUR][1000 genomes]
rs1994221	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2014477	0.82[EUR][1000 genomes]
rs34035500	0.82[EUR][1000 genomes]
rs34397090	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34709633	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34860297	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35007850	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35392939	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35523866	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4737834	0.80[EUR][1000 genomes]
rs4737835	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4737838	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60625302	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6472309	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6472312	0.84[EUR][1000 genomes]
rs66468629	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67614695	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6994135	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6996113	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7008297	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7010517	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7014478	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7815069	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7820882	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7821010	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7821161	0.81[EUR][1000 genomes]
rs7821969	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7822207	0.80[EUR][1000 genomes]
rs7827961	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs905529	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024135	chr8:68235792-68629789	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv539642	chr8:68235792-68629789	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2752264	chr8:68244546-68647201	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68402600-68423000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr8:68417200-68424600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr8:68417400-68424800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr8:68418800-68424600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:68418800-68426000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:68419000-68422800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:68419000-68423200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:68419200-68422600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:68419200-68422800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:68419200-68423000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr8:68419200-68423200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr8:68419200-68424000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:68419200-68424200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:68419200-68424200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:68420000-68421600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr8:68420000-68422600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr8:68420800-68421800	Enhancers	HUES48 Cell Line	embryonic stem cell

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