Variant report

Variant	rs9385460
Chromosome Location	chr6:128795348-128795349
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs9321119	0.85[ASN][1000 genomes]
rs9372892	0.81[ASN][1000 genomes]
rs9385459	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9398870	0.80[ASN][1000 genomes]
rs9402044	0.81[ASN][1000 genomes]
rs9402045	0.83[ASN][1000 genomes]

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

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128780400-128795400	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr6:128785600-128795400	Weak transcription	A549	lung
3	chr6:128786800-128795600	Weak transcription	HSMM	muscle
4	chr6:128787200-128795800	Weak transcription	Left Ventricle	heart
5	chr6:128787200-128795800	Weak transcription	Pancreas	Pancrea
6	chr6:128787600-128799200	Weak transcription	HepG2	liver
7	chr6:128788000-128799000	Weak transcription	Liver	Liver
8	chr6:128788400-128795400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:128790600-128796400	Weak transcription	Stomach Mucosa	stomach
10	chr6:128791200-128795600	Weak transcription	Fetal Heart	heart
11	chr6:128791200-128796000	Weak transcription	Gastric	stomach
12	chr6:128791200-128800000	Weak transcription	Aorta	Aorta
13	chr6:128792800-128796000	Enhancers	Brain Cingulate Gyrus	brain
14	chr6:128793000-128799400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr6:128793400-128795800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr6:128793400-128795800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr6:128793400-128796600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:128793400-128799000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr6:128793400-128799400	Weak transcription	Fetal Intestine Small	intestine
20	chr6:128793400-128803800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:128793600-128795800	Weak transcription	Fetal Intestine Large	intestine
22	chr6:128793600-128795800	Weak transcription	Small Intestine	intestine
23	chr6:128793600-128799000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr6:128794200-128795400	Weak transcription	Brain Substantia Nigra	brain
25	chr6:128794400-128796800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr6:128794400-128798200	Weak transcription	Brain Angular Gyrus	brain
27	chr6:128794400-128799200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr6:128794800-128795400	Enhancers	Right Ventricle	heart
29	chr6:128794800-128796800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:128794800-128797000	Enhancers	Brain Hippocampus Middle	brain
31	chr6:128794800-128797200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr6:128794800-128797400	Enhancers	HMEC	breast
33	chr6:128795000-128795800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:128795000-128796000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr6:128795000-128796200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:128795000-128796800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr6:128795000-128797400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:128795200-128795400	Enhancers	HSMMtube	muscle
39	chr6:128795200-128795600	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr6:128795200-128795600	Enhancers	Hela-S3	cervix
41	chr6:128795200-128796000	Enhancers	Brain Anterior Caudate	brain
42	chr6:128795200-128796000	Enhancers	Placenta Amnion	Placenta Amnion
43	chr6:128795200-128796200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:128795200-128796800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr6:128795200-128797400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr6:128795200-128797800	Enhancers	NHEK	skin

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