Variant report

Variant	rs9496381
Chromosome Location	chr6:142765034-142765035
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:142763089..142766069-chr6:142766128..142768909,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs13437156	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1411147	1.00[AMR][1000 genomes]
rs6921559	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6939432	1.00[MEX][hapmap]
rs7760219	0.92[AFR][1000 genomes]
rs9484627	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9484628	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9484629	1.00[ASW][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9484634	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9484635	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9484636	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9484638	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9484640	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9484641	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9484644	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496336	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496350	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496351	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496359	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496362	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496363	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496375	1.00[ASW][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496376	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496383	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496385	1.00[AMR][1000 genomes]
rs9496386	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496387	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496393	1.00[AMR][1000 genomes]
rs9496407	1.00[AMR][1000 genomes]
rs9496408	1.00[AMR][1000 genomes]
rs9496410	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949088	chr6:142561402-143128849	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv3429097	chr6:142762259-142765357	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
3	esv3449614	chr6:142762709-142765207	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9496381	UGT2B17	trans	lymphoblastoid	seeQTL

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142735200-142765400	Weak transcription	Hela-S3	cervix
2	chr6:142735800-142765400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:142737600-142765600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr6:142737800-142765800	Weak transcription	Fetal Brain Male	brain
5	chr6:142738000-142774200	Weak transcription	NHEK	skin
6	chr6:142743200-142769200	Weak transcription	HMEC	breast
7	chr6:142748000-142782600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:142750000-142766000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:142751600-142780000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:142752400-142774600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:142753600-142774000	Strong transcription	Liver	Liver
12	chr6:142754000-142772800	Strong transcription	HepG2	liver
13	chr6:142755200-142765800	Weak transcription	Fetal Intestine Small	intestine
14	chr6:142755200-142766000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:142757200-142765400	Weak transcription	Fetal Intestine Large	intestine
16	chr6:142757200-142765400	Weak transcription	Fetal Stomach	stomach
17	chr6:142760000-142770600	Weak transcription	Lung	lung
18	chr6:142760400-142767800	Weak transcription	Esophagus	oesophagus
19	chr6:142760600-142765400	Weak transcription	HSMM	muscle
20	chr6:142760600-142765800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:142760800-142765400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:142762000-142765400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:142762200-142765400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:142762200-142773000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:142762400-142766000	Weak transcription	HUVEC	blood vessel
26	chr6:142762600-142765400	Weak transcription	Placenta	Placenta
27	chr6:142762800-142765800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr6:142762800-142766800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:142763200-142765400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr6:142763200-142765800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr6:142763200-142765800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr6:142763200-142765800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr6:142763200-142765800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr6:142763200-142765800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr6:142763200-142766000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr6:142763200-142766000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:142763400-142765600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr6:142764000-142766400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:142764200-142766600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:142764200-142767000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:142764400-142765400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr6:142764600-142766200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:142764600-142766400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:142764600-142766400	Strong transcription	Primary hematopoietic stem cells	blood
45	chr6:142764800-142766200	Enhancers	NHLF	lung
46	chr6:142764800-142767800	Enhancers	Fetal Lung	lung
47	chr6:142765000-142765600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:142765000-142765600	Weak transcription	A549	lung
49	chr6:142765000-142766400	Enhancers	Osteobl	bone

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