Variant report

Variant	rs17327171
Chromosome Location	chr4:119864599-119864600
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10017229	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs10518316	1.00[LWK][hapmap]
rs10518317	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13151719	0.87[EUR][1000 genomes]
rs17050208	0.83[LWK][hapmap]
rs17050228	0.86[CEU][hapmap];0.90[GIH][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes]
rs17050240	0.86[CEU][hapmap];0.89[EUR][1000 genomes]
rs17261234	0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2389694	0.87[EUR][1000 genomes]
rs4261974	0.86[CEU][hapmap];0.90[GIH][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes]
rs4299565	0.88[EUR][1000 genomes]
rs4834729	0.82[CEU][hapmap];1.00[GIH][hapmap]
rs67109496	0.88[EUR][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	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17327171	NUDT6	cis	cerebellum	SCAN
rs17327171	USP53	cis	cerebellum	SCAN
rs17327171	EXOSC9	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119858800-119871600	Weak transcription	Psoas Muscle	Psoas
2	chr4:119860800-119868200	Weak transcription	Fetal Heart	heart
3	chr4:119861600-119865200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr4:119862800-119864600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:119863000-119867600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr4:119863200-119865200	Enhancers	Rectal Smooth Muscle	rectum
7	chr4:119863200-119867400	Weak transcription	Fetal Stomach	stomach
8	chr4:119863400-119868200	Enhancers	Colon Smooth Muscle	Colon
9	chr4:119863400-119868400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr4:119863400-119869400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:119863400-119870000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:119863400-119871600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr4:119863600-119867400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr4:119863600-119868400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr4:119863600-119869600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:119863600-119871400	Weak transcription	Right Ventricle	heart
17	chr4:119863800-119864600	Enhancers	Aorta	Aorta
18	chr4:119864000-119865600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr4:119864000-119867400	Weak transcription	Ovary	ovary
20	chr4:119864000-119871400	Weak transcription	Left Ventricle	heart
21	chr4:119864200-119864600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr4:119864400-119864600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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