Variant report

Variant	rs17413763
Chromosome Location	chr8:4182085-4182086
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10103330	0.81[CHB][hapmap]
rs10282904	1.00[YRI][hapmap]
rs10503246	1.00[YRI][hapmap]
rs10503254	0.81[CHB][hapmap]
rs12546471	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs13269120	0.81[CHB][hapmap]
rs1504757	1.00[YRI][hapmap]
rs1519167	1.00[YRI][hapmap]
rs1566861	0.81[CHB][hapmap]
rs1647304	1.00[YRI][hapmap]
rs1647305	1.00[YRI][hapmap]
rs1647306	1.00[YRI][hapmap]
rs1700091	1.00[YRI][hapmap]
rs1700093	1.00[YRI][hapmap]
rs17336085	1.00[YRI][hapmap]
rs17413749	0.82[CHB][hapmap]
rs2036548	0.82[ASN][1000 genomes]
rs2174358	0.81[ASN][1000 genomes]
rs6993956	1.00[YRI][hapmap]
rs7010404	1.00[YRI][hapmap]
rs779118	1.00[YRI][hapmap]
rs779130	1.00[YRI][hapmap]
rs889994	1.00[YRI][hapmap]
rs9314523	0.81[CHB][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949269	chr8:3556145-4246903	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv530863	chr8:3710810-4381378	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv530531	chr8:3942575-4605088	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1034771	chr8:3969767-4255716	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv889939	chr8:4033186-4718648	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1032488	chr8:4072826-4328057	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1019677	chr8:4095786-4328057	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1032152	chr8:4114483-4186701	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1015485	chr8:4127704-4272847	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv34054	chr8:4165205-4450873	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17413763	XKR5	cis	parietal	SCAN
rs17413763	FLJ10661	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4171000-4188800	Weak transcription	Pancreas	Pancrea
2	chr8:4180800-4182400	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr8:4181200-4183000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:4181800-4182200	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr8:4182000-4183200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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