Variant report

Variant	rs9491965
Chromosome Location	chr6:128801302-128801303
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1012629	0.89[TSI][hapmap]
rs12333125	1.00[ASN][1000 genomes]
rs1417900	0.82[CEU][hapmap];0.86[GIH][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17053280	0.86[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055907	0.86[CEU][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17460940	0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs35801729	1.00[ASN][1000 genomes]
rs55848328	0.82[EUR][1000 genomes]
rs62425728	0.81[EUR][1000 genomes]
rs6569535	1.00[CHD][hapmap]
rs6921395	1.00[ASN][1000 genomes]
rs6923822	1.00[CHD][hapmap]
rs7751265	1.00[CHD][hapmap]
rs9321120	1.00[ASN][1000 genomes]
rs9482886	0.81[EUR][1000 genomes]
rs9482889	0.86[CEU][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9491959	0.81[EUR][1000 genomes]
rs9491960	0.86[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9491973	0.86[CEU][hapmap];1.00[CHD][hapmap];0.85[MEX][hapmap];0.90[TSI][hapmap];1.00[ASN][1000 genomes]
rs9491976	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9492001	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv886649	chr6:128399657-128808054	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1020071	chr6:128579774-129048919	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv538441	chr6:128579774-129048919	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv830800	chr6:128710631-128878435	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9491965	MOXD1	cis	parietal	SCAN
rs9491965	AKAP7	cis	parietal	SCAN

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128793400-128803800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:128795400-128811600	Weak transcription	HSMMtube	muscle
3	chr6:128795600-128801600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:128796000-128803800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:128796000-128811400	Weak transcription	HSMM	muscle
6	chr6:128796600-128803600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:128796800-128803400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr6:128797200-128811600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr6:128797400-128804800	Weak transcription	Fetal Heart	heart
10	chr6:128797400-128808200	Weak transcription	NH-A	brain
11	chr6:128797400-128822000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:128797800-128808200	Weak transcription	NHEK	skin
13	chr6:128799000-128801400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:128799200-128801400	Enhancers	HepG2	liver
15	chr6:128799200-128802200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr6:128799800-128802000	Enhancers	HMEC	breast
17	chr6:128799800-128802400	Enhancers	Brain Cingulate Gyrus	brain
18	chr6:128799800-128802800	Enhancers	Brain Substantia Nigra	brain
19	chr6:128799800-128811000	Weak transcription	Fetal Lung	lung
20	chr6:128799800-128812600	Weak transcription	Fetal Stomach	stomach
21	chr6:128800000-128803200	Enhancers	Brain Hippocampus Middle	brain
22	chr6:128800200-128801400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:128800200-128801400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr6:128800200-128802000	Enhancers	Liver	Liver
25	chr6:128800200-128802000	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr6:128800200-128802000	Enhancers	Right Atrium	heart
27	chr6:128800200-128803200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr6:128800200-128805000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr6:128800200-128807800	Weak transcription	Primary T cells from cord blood	blood
30	chr6:128800200-128807800	Weak transcription	Left Ventricle	heart
31	chr6:128800200-128808400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:128800200-128808400	Weak transcription	Pancreas	Pancrea
33	chr6:128800200-128810600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:128800200-128811600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr6:128800200-128812600	Weak transcription	Colonic Mucosa	Colon
36	chr6:128800200-128812800	Weak transcription	Aorta	Aorta
37	chr6:128800400-128801400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr6:128800400-128803800	Weak transcription	Ovary	ovary
39	chr6:128800400-128805400	Enhancers	Brain Anterior Caudate	brain
40	chr6:128800400-128808200	Weak transcription	Osteobl	bone
41	chr6:128800400-128811600	Weak transcription	Colon Smooth Muscle	Colon
42	chr6:128800400-128811600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr6:128800400-128811600	Weak transcription	Right Ventricle	heart
44	chr6:128800600-128807600	Weak transcription	Fetal Intestine Small	intestine
45	chr6:128800800-128802000	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr6:128800800-128803200	Weak transcription	Brain Angular Gyrus	brain
47	chr6:128800800-128806600	Weak transcription	Small Intestine	intestine
48	chr6:128801000-128801400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:128801000-128801800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr6:128801000-128802000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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