Variant report

Variant	rs12717181
Chromosome Location	chr6:128793162-128793163
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:128790806..128793680-chr6:128840428..128843028,2	MCF-7	breast:
2	chr6:128785920..128790312-chr6:128790830..128794424,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152894	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10155795	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12332836	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13196790	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13201242	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13216847	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1341597	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1341599	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1891150	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28531950	0.82[EUR][1000 genomes]
rs28550449	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34337200	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35242805	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35395689	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35419289	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36120502	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58050191	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61143917	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71568904	1.00[EUR][1000 genomes]
rs71568905	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71568906	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7760626	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7775722	0.82[EUR][1000 genomes]
rs9491950	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9491951	0.82[EUR][1000 genomes]
rs9491964	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9491970	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9491971	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9491972	0.83[AMR][1000 genomes];0.96[EUR][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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128773400-128795200	Weak transcription	HSMMtube	muscle
2	chr6:128780400-128795400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr6:128785600-128794400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:128785600-128795200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:128785600-128795400	Weak transcription	A549	lung
6	chr6:128786800-128795600	Weak transcription	HSMM	muscle
7	chr6:128787200-128794800	Weak transcription	Right Ventricle	heart
8	chr6:128787200-128795800	Weak transcription	Left Ventricle	heart
9	chr6:128787200-128795800	Weak transcription	Pancreas	Pancrea
10	chr6:128787400-128793200	Weak transcription	Fetal Intestine Large	intestine
11	chr6:128787600-128794800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:128787600-128794800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr6:128787600-128795200	Weak transcription	NHEK	skin
14	chr6:128787600-128799200	Weak transcription	HepG2	liver
15	chr6:128788000-128799000	Weak transcription	Liver	Liver
16	chr6:128788400-128795400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:128788800-128795000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:128790600-128796400	Weak transcription	Stomach Mucosa	stomach
19	chr6:128791000-128793400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr6:128791200-128795600	Weak transcription	Fetal Heart	heart
21	chr6:128791200-128796000	Weak transcription	Gastric	stomach
22	chr6:128791200-128800000	Weak transcription	Aorta	Aorta
23	chr6:128791800-128793600	Enhancers	Brain Hippocampus Middle	brain
24	chr6:128792400-128794200	Enhancers	Brain Substantia Nigra	brain
25	chr6:128792800-128793400	Enhancers	Brain Anterior Caudate	brain
26	chr6:128792800-128793400	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr6:128792800-128793400	Enhancers	Fetal Intestine Small	intestine
28	chr6:128792800-128793400	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr6:128792800-128793600	Enhancers	Brain Germinal Matrix	brain
30	chr6:128792800-128793600	Enhancers	Small Intestine	intestine
31	chr6:128792800-128794400	Enhancers	Brain Angular Gyrus	brain
32	chr6:128792800-128796000	Enhancers	Brain Cingulate Gyrus	brain
33	chr6:128793000-128793200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr6:128793000-128793400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:128793000-128799400	Weak transcription	Rectal Mucosa Donor 29	rectum

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