Variant report

Variant	rs17053280
Chromosome Location	chr6:128795887-128795888
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12333125	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1417900	0.95[CEU][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055907	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35801729	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6569535	1.00[CHD][hapmap]
rs6921395	0.86[CEU][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6923822	1.00[CHD][hapmap]
rs7751265	1.00[CHD][hapmap]
rs9321120	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9482889	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9491960	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9491965	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]
rs9491973	1.00[CEU][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9491976	0.93[AMR][1000 genomes];0.91[EUR][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
rs17053280	AKAP7	cis	parietal	SCAN
rs17053280	MOXD1	cis	parietal	SCAN

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128787600-128799200	Weak transcription	HepG2	liver
2	chr6:128788000-128799000	Weak transcription	Liver	Liver
3	chr6:128790600-128796400	Weak transcription	Stomach Mucosa	stomach
4	chr6:128791200-128796000	Weak transcription	Gastric	stomach
5	chr6:128791200-128800000	Weak transcription	Aorta	Aorta
6	chr6:128792800-128796000	Enhancers	Brain Cingulate Gyrus	brain
7	chr6:128793000-128799400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr6:128793400-128796600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:128793400-128799000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr6:128793400-128799400	Weak transcription	Fetal Intestine Small	intestine
11	chr6:128793400-128803800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:128793600-128799000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr6:128794400-128796800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr6:128794400-128798200	Weak transcription	Brain Angular Gyrus	brain
15	chr6:128794400-128799200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr6:128794800-128796800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:128794800-128797000	Enhancers	Brain Hippocampus Middle	brain
18	chr6:128794800-128797200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr6:128794800-128797400	Enhancers	HMEC	breast
20	chr6:128795000-128796000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr6:128795000-128796200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:128795000-128796800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:128795000-128797400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:128795200-128796000	Enhancers	Brain Anterior Caudate	brain
25	chr6:128795200-128796000	Enhancers	Placenta Amnion	Placenta Amnion
26	chr6:128795200-128796200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:128795200-128796800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr6:128795200-128797400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:128795200-128797800	Enhancers	NHEK	skin
30	chr6:128795400-128796000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:128795400-128796200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr6:128795400-128796600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr6:128795400-128797600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:128795400-128799000	Weak transcription	Right Ventricle	heart
35	chr6:128795400-128799200	Enhancers	Brain Substantia Nigra	brain
36	chr6:128795400-128811600	Weak transcription	HSMMtube	muscle
37	chr6:128795600-128796000	Enhancers	HSMM	muscle
38	chr6:128795600-128796400	Enhancers	Osteobl	bone
39	chr6:128795600-128797400	Enhancers	Fetal Heart	heart
40	chr6:128795600-128799200	Enhancers	NHDF-Ad	bronchial
41	chr6:128795600-128801600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr6:128795800-128796000	Enhancers	H9 Cell Line	embryonic stem cell
43	chr6:128795800-128796000	Enhancers	Rectal Smooth Muscle	rectum
44	chr6:128795800-128796200	Enhancers	HUVEC	blood vessel
45	chr6:128795800-128796200	Enhancers	NH-A	brain
46	chr6:128795800-128796400	Enhancers	Pancreas	Pancrea
47	chr6:128795800-128796400	Enhancers	Small Intestine	intestine
48	chr6:128795800-128796600	Enhancers	Left Ventricle	heart
49	chr6:128795800-128797400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:128795800-128797400	Enhancers	Brain Inferior Temporal Lobe	brain

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