Variant report

Variant	rs683255
Chromosome Location	chr6:150694239-150694240
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	chr6:150693974..150695744-chr6:150700976..150703493,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11969964	0.94[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.81[MEX][hapmap];0.90[MKK][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12530375	0.80[JPT][hapmap]
rs1339104	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1339105	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1339106	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1339107	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1339109	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1339110	0.94[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs1416481	0.80[JPT][hapmap]
rs1556881	0.81[CHD][hapmap];0.87[JPT][hapmap]
rs2064213	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2076284	0.80[JPT][hapmap]
rs2076285	0.80[JPT][hapmap]
rs2076286	0.80[JPT][hapmap]
rs2076287	0.81[CHD][hapmap];0.87[JPT][hapmap]
rs2076288	0.87[JPT][hapmap]
rs2076289	0.87[JPT][hapmap]
rs2076290	0.87[JPT][hapmap]
rs2076291	0.87[JPT][hapmap]
rs2076292	0.87[JPT][hapmap]
rs3734734	0.87[JPT][hapmap]
rs3823259	0.87[JPT][hapmap]
rs4407723	0.87[JPT][hapmap]
rs5029121	0.87[JPT][hapmap]
rs57538858	0.89[ASN][1000 genomes]
rs602842	0.89[CEU][hapmap];0.94[GIH][hapmap];0.93[JPT][hapmap];0.94[MEX][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs612200	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61253143	0.90[ASN][1000 genomes]
rs617594	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs618514	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62432478	0.87[ASN][1000 genomes]
rs62432481	0.86[ASN][1000 genomes]
rs62432482	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs62432483	0.91[ASN][1000 genomes]
rs62432484	0.90[ASN][1000 genomes]
rs629163	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs630632	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs632337	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs632829	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs640139	1.00[CEU][hapmap]
rs652210	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs653588	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs654101	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs654476	1.00[CEU][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs660382	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.96[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs671675	0.89[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7749131	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7749894	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7757136	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7757456	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7761373	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7761906	0.85[CHD][hapmap];0.87[JPT][hapmap]
rs7762616	0.80[JPT][hapmap]
rs7772485	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7774077	0.80[JPT][hapmap]
rs9371429	0.91[ASN][1000 genomes]
rs9371991	0.88[ASN][1000 genomes]
rs9384445	0.86[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs9384466	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9397292	0.89[CHB][hapmap];0.83[CHD][hapmap];0.87[JPT][hapmap];0.81[MEX][hapmap];0.87[ASN][1000 genomes]
rs9397303	0.81[CHD][hapmap];0.87[JPT][hapmap]
rs9397937	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9397944	0.87[JPT][hapmap]
rs9480323	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	esv2763602	chr6:150581193-150720666	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3370261	chr6:150692709-150694807	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs683255	ULBP2	cis	cerebellum	SCAN
rs683255	PPP1R14C	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150691000-150698200	Weak transcription	Stomach Mucosa	stomach
2	chr6:150691600-150700200	Weak transcription	Lung	lung
3	chr6:150691800-150695000	Enhancers	Liver	Liver
4	chr6:150692200-150694600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:150692200-150698200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:150692400-150695200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr6:150692800-150695000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:150692800-150695400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:150692800-150695600	Enhancers	Osteobl	bone
10	chr6:150693000-150695400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:150693000-150695400	Enhancers	NHDF-Ad	bronchial
12	chr6:150693200-150698400	Weak transcription	Fetal Intestine Large	intestine
13	chr6:150693400-150698000	Weak transcription	Fetal Intestine Small	intestine
14	chr6:150693400-150698400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:150693800-150694400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:150693800-150694400	Enhancers	HMEC	breast
17	chr6:150693800-150694600	Enhancers	NH-A	brain
18	chr6:150694000-150694600	Weak transcription	Right Atrium	heart
19	chr6:150694000-150694800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:150694000-150694800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:150694000-150694800	Enhancers	Brain Germinal Matrix	brain
22	chr6:150694000-150695000	Enhancers	Brain Cingulate Gyrus	brain
23	chr6:150694000-150695200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:150694000-150695600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr6:150694000-150698200	Weak transcription	Brain Hippocampus Middle	brain
26	chr6:150694200-150694800	Enhancers	Fetal Lung	lung

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