Variant report

Variant	rs10514919
Chromosome Location	chr17:45342129-45342130
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45333610..45338031-chr17:45341654..45346712,6	K562	blood:
2	chr17:45342094..45343983-chr17:45358070..45360151,2	K562	blood:

Variant related genes	Relation type
ENSG00000238419	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11651904	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11656865	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11657517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11657963	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11658221	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11868894	0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11870620	0.95[ASN][1000 genomes]
rs12940207	0.86[ASN][1000 genomes]
rs12941431	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16941776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16941780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16941802	0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs16941908	0.84[JPT][hapmap]
rs1806687	0.85[AFR][1000 genomes]
rs2292864	0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2292866	0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs35265764	0.85[ASN][1000 genomes]
rs3785872	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs3892085	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4642	0.91[TSI][hapmap]
rs61131650	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62074423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7217710	0.82[TSI][hapmap]
rs7219925	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8066295	0.92[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8074094	0.92[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8080254	0.92[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs884696	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs999323	0.82[TSI][hapmap]

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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10514919	HSD17B1	cis	cerebellum	SCAN
rs10514919	KRT31	cis	parietal	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45333200-45344600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr17:45334000-45345800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr17:45335600-45343200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr17:45335800-45342600	Weak transcription	NHLF	lung
5	chr17:45335800-45343200	Weak transcription	Right Atrium	heart
6	chr17:45335800-45343600	Weak transcription	Aorta	Aorta
7	chr17:45336000-45346800	Weak transcription	Fetal Heart	heart
8	chr17:45336200-45342600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr17:45336200-45343400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr17:45336400-45342600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr17:45336400-45342800	Weak transcription	NH-A	brain
12	chr17:45336400-45342800	Weak transcription	Osteobl	bone
13	chr17:45338000-45352200	Weak transcription	Fetal Muscle Leg	muscle
14	chr17:45339400-45345000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr17:45339800-45343200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr17:45340200-45342800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr17:45340400-45342800	Weak transcription	Adipose Nuclei	Adipose
18	chr17:45340600-45342600	Weak transcription	Colon Smooth Muscle	Colon
19	chr17:45340600-45342800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr17:45340600-45343200	Weak transcription	Left Ventricle	heart
21	chr17:45340600-45343400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr17:45340600-45343400	Weak transcription	Spleen	Spleen
23	chr17:45340800-45342600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr17:45340800-45342800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr17:45341000-45345000	Enhancers	K562	blood
26	chr17:45341200-45342200	Enhancers	HSMMtube	muscle
27	chr17:45341400-45348800	Enhancers	NHDF-Ad	bronchial
28	chr17:45341600-45342800	Weak transcription	HUVEC	blood vessel
29	chr17:45341800-45342800	Weak transcription	Psoas Muscle	Psoas
30	chr17:45341800-45343600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr17:45342000-45342200	Enhancers	Right Ventricle	heart
32	chr17:45342000-45342800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr17:45342000-45344400	Enhancers	HSMM	muscle
34	chr17:45342000-45345200	Enhancers	Small Intestine	intestine

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