Variant report

Variant	rs17050285
Chromosome Location	chr4:119839165-119839166
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10021334	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11098462	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17050270	0.94[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.91[YRI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28542234	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57021447	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62326836	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62326841	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7349616	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs736692	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs736693	0.93[ASW][hapmap];0.94[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.96[TSI][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs736694	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7654417	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7661292	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7676506	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17050285	PRSS12	cis	parietal	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119826800-119839600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:119831400-119840400	Weak transcription	Right Ventricle	heart
3	chr4:119831600-119847200	Weak transcription	Right Atrium	heart
4	chr4:119832800-119840200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:119833000-119845600	Weak transcription	Aorta	Aorta
6	chr4:119836600-119841600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:119837400-119839200	Enhancers	Colon Smooth Muscle	Colon
8	chr4:119837600-119841800	Enhancers	Osteobl	bone
9	chr4:119838000-119839400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:119838000-119840600	Enhancers	Stomach Smooth Muscle	stomach
11	chr4:119838000-119841400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:119838200-119839200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:119838200-119840200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:119838200-119840400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:119838200-119851600	Enhancers	Rectal Smooth Muscle	rectum
16	chr4:119838400-119839200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:119838400-119842000	Weak transcription	Left Ventricle	heart
18	chr4:119838600-119839200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:119838600-119839400	Enhancers	HUVEC	blood vessel
20	chr4:119838600-119839400	Enhancers	NHDF-Ad	bronchial
21	chr4:119838600-119840000	Enhancers	Hela-S3	cervix
22	chr4:119838600-119840000	Enhancers	NHEK	skin
23	chr4:119838600-119840400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:119838600-119840400	Weak transcription	Ovary	ovary
25	chr4:119838800-119839600	Enhancers	NH-A	brain
26	chr4:119838800-119840600	Enhancers	HSMMtube	muscle
27	chr4:119838800-119841400	Enhancers	NHLF	lung
28	chr4:119839000-119839200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr4:119839000-119839200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:119839000-119840200	Weak transcription	Fetal Stomach	stomach
31	chr4:119839000-119840600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:119839000-119840600	Enhancers	HSMM	muscle

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