Variant report

Variant	rs6905941
Chromosome Location	chr6:128307725-128307726
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:128306119..128308919-chr6:128317530..128320441,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11154433	0.95[CEU][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12055782	0.86[CEU][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13197257	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs13200150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13218577	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13219424	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2326670	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28360516	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34601789	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3903663	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs45582334	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4563733	0.83[AMR][1000 genomes]
rs6936878	0.85[CEU][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9375542	0.82[AMR][1000 genomes]
rs9375543	0.80[MEX][hapmap]
rs9375544	0.85[CEU][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9388610	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs9388612	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9402011	0.81[CEU][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv604642	chr6:128278798-128351143	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv7967	chr6:128304971-128315423	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
3	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6905941	ENPP3	cis	cerebellum	SCAN
rs6905941	HEY2	cis	cerebellum	SCAN

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128287200-128309000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:128287600-128308600	Weak transcription	Esophagus	oesophagus
3	chr6:128288600-128321800	Weak transcription	Small Intestine	intestine
4	chr6:128289000-128431000	Weak transcription	Psoas Muscle	Psoas
5	chr6:128290000-128308200	Strong transcription	HepG2	liver
6	chr6:128293600-128374400	Weak transcription	Pancreas	Pancrea
7	chr6:128293800-128307800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:128294400-128330600	Weak transcription	NHDF-Ad	bronchial
9	chr6:128297400-128334000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:128297800-128308200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr6:128297800-128312600	Weak transcription	Colonic Mucosa	Colon
12	chr6:128298000-128352600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr6:128298200-128313800	Weak transcription	Colon Smooth Muscle	Colon
14	chr6:128298200-128334600	Weak transcription	Fetal Heart	heart
15	chr6:128299000-128317200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:128300000-128317000	Weak transcription	Primary T cells from cord blood	blood
17	chr6:128300400-128312800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr6:128300600-128308600	Strong transcription	HSMM	muscle
19	chr6:128300800-128313000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:128300800-128326400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:128301000-128325200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr6:128302600-128308200	Strong transcription	NH-A	brain
23	chr6:128302600-128319600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr6:128302600-128331400	Weak transcription	Gastric	stomach
25	chr6:128302800-128308400	Weak transcription	Right Ventricle	heart
26	chr6:128302800-128309600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr6:128302800-128313400	Weak transcription	Brain Angular Gyrus	brain
28	chr6:128302800-128321600	Weak transcription	Brain Hippocampus Middle	brain
29	chr6:128302800-128325400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr6:128302800-128327800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:128302800-128343800	Weak transcription	Ovary	ovary
32	chr6:128303000-128312600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr6:128303000-128321800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:128303400-128309800	Weak transcription	Fetal Muscle Leg	muscle
35	chr6:128303400-128313000	Weak transcription	Adipose Nuclei	Adipose
36	chr6:128303800-128320400	Weak transcription	Fetal Intestine Small	intestine
37	chr6:128304000-128309000	Strong transcription	Primary B cells from cord blood	blood
38	chr6:128304000-128309000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr6:128304000-128329200	Weak transcription	Fetal Lung	lung
40	chr6:128304200-128307800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:128304400-128309600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr6:128304600-128327600	Weak transcription	Fetal Stomach	stomach
43	chr6:128304600-128328600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr6:128304800-128321600	Weak transcription	Brain Substantia Nigra	brain
45	chr6:128305200-128326200	Weak transcription	Osteobl	bone
46	chr6:128305200-128353000	Weak transcription	Left Ventricle	heart
47	chr6:128305800-128307800	Strong transcription	Primary B cells from peripheral blood	blood
48	chr6:128305800-128308400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr6:128305800-128313800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr6:128305800-128319000	Weak transcription	Rectal Mucosa Donor 29	rectum

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