Variant report

Variant	rs7817596
Chromosome Location	chr8:113823578-113823579
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10081489	0.82[CHB][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap]
rs10106945	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10216504	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10216505	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12334432	0.82[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13261060	0.82[CHB][hapmap];0.85[ASN][1000 genomes]
rs1549354	0.90[CHB][hapmap]
rs1991136	0.90[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1991137	0.90[CHB][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2113666	0.90[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2161925	0.82[CHB][hapmap]
rs2194598	0.85[ASN][1000 genomes]
rs231279	0.82[CHB][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs231281	0.86[CHB][hapmap];0.83[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs231285	1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs231286	0.82[CHB][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs231289	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs231316	1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs231319	1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2355821	0.90[CHB][hapmap]
rs2432742	0.90[CHB][hapmap];1.00[ASN][1000 genomes]
rs2446470	0.89[ASN][1000 genomes]
rs2446471	0.89[ASN][1000 genomes]
rs4876480	0.90[CHB][hapmap]
rs57897007	0.80[ASN][1000 genomes]
rs61291053	0.82[ASN][1000 genomes]
rs61584754	0.87[ASN][1000 genomes]
rs6999481	0.89[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7004983	0.88[JPT][hapmap]
rs7005129	0.82[CHB][hapmap];0.85[ASN][1000 genomes]
rs72678452	0.80[ASN][1000 genomes]
rs72678454	0.80[ASN][1000 genomes]
rs72680285	0.87[ASN][1000 genomes]
rs73700769	0.80[ASN][1000 genomes]
rs7817836	0.82[CHB][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7832050	0.82[CHB][hapmap]
rs889987	0.82[CHB][hapmap];0.85[ASN][1000 genomes]
rs9297478	0.88[JPT][hapmap]
rs9297479	0.90[CHB][hapmap]
rs9297480	0.90[CHB][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2753595	chr8:113283214-114190390	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv534270	chr8:113585830-113979075	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
3	esv2754315	chr8:113736824-114048824	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv524089	chr8:113761143-113852777	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv891326	chr8:113777669-114091732	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113819800-113825600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:113821600-113824000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:113821600-113824200	Weak transcription	Fetal Intestine Large	intestine
4	chr8:113821600-113824400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:113822400-113824200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:113822400-113824200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:113822400-113824200	Weak transcription	Fetal Intestine Small	intestine
8	chr8:113822400-113825400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:113822600-113825400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:113822800-113825200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr8:113822800-113825400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr8:113822800-113825400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:113822800-113825600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr8:113823000-113825600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:113823200-113824200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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