Variant report

Variant	rs12332836
Chromosome Location	chr6:128765400-128765401
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:128764883..128766764-chr6:128769188..128770820,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182404	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12717181	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1341597	1.00[EUR][1000 genomes]
rs1341599	0.82[EUR][1000 genomes]
rs1891150	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28531950	1.00[EUR][1000 genomes]
rs61143917	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71568904	0.82[EUR][1000 genomes]
rs7775722	1.00[EUR][1000 genomes]
rs9491950	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9491951	1.00[EUR][1000 genomes]
rs9491964	0.82[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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128740800-128777000	Weak transcription	Fetal Intestine Small	intestine
2	chr6:128753200-128777000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:128754800-128767000	Weak transcription	NHEK	skin
4	chr6:128756400-128776600	Weak transcription	Fetal Intestine Large	intestine
5	chr6:128758800-128766600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:128759800-128765400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:128759800-128767200	Weak transcription	HMEC	breast
8	chr6:128759800-128767400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:128759800-128786800	Weak transcription	Left Ventricle	heart
10	chr6:128760000-128765600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr6:128760000-128766800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:128760000-128767000	Weak transcription	Fetal Brain Female	brain
13	chr6:128760200-128769800	Weak transcription	Brain Angular Gyrus	brain
14	chr6:128760800-128765600	Weak transcription	Colon Smooth Muscle	Colon
15	chr6:128760800-128767400	Weak transcription	Brain Anterior Caudate	brain
16	chr6:128761400-128775600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr6:128761400-128778000	Weak transcription	Small Intestine	intestine
18	chr6:128762800-128767200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:128762800-128774800	Weak transcription	Ovary	ovary
20	chr6:128763000-128771800	Weak transcription	Fetal Kidney	kidney
21	chr6:128763200-128773200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr6:128763600-128765400	Weak transcription	Fetal Lung	lung
23	chr6:128763600-128767000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr6:128763600-128775200	Weak transcription	Psoas Muscle	Psoas
25	chr6:128763800-128767000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr6:128764000-128766600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr6:128764800-128766000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:128764800-128766000	Enhancers	Rectal Smooth Muscle	rectum
29	chr6:128765000-128765400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:128765000-128765400	Enhancers	Stomach Mucosa	stomach
31	chr6:128765000-128765600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:128765000-128765600	Enhancers	Pancreas	Pancrea
33	chr6:128765000-128766800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr6:128765200-128765400	Enhancers	Gastric	stomach
35	chr6:128765200-128765800	Enhancers	Fetal Stomach	stomach
36	chr6:128765200-128765800	Enhancers	HepG2	liver
37	chr6:128765400-128765600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr6:128765400-128765800	Enhancers	Fetal Lung	lung
39	chr6:128765400-128769200	Weak transcription	Gastric	stomach

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