Variant report

Variant	rs12237752
Chromosome Location	chr9:12796333-12796334
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:12793649..12798936-chr9:12813991..12818779,7	MCF-7	breast:
2	chr9:12794075..12796517-chr9:12813544..12816073,2	MCF-7	breast:
3	chr9:12773433..12781932-chr9:12782481..12798090,47	MCF-7	breast:
4	chr9:12775140..12777800-chr9:12796207..12799105,2	K562	blood:
5	chr9:12789292..12791495-chr9:12794969..12797067,2	MCF-7	breast:
6	chr9:12794123..12798425-chr9:12799018..12802796,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235448	Chromatin interaction
ENSG00000153714	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10122949	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10809846	0.91[ASN][1000 genomes]
rs10960803	0.91[ASN][1000 genomes]
rs13289069	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34919266	0.91[ASN][1000 genomes]
rs71474394	0.91[ASN][1000 genomes]
rs9298684	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs957224	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034393	chr9:12278703-12798236	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv869288	chr9:12286919-12816766	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv498136	chr9:12387840-12984158	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	esv2422212	chr9:12448789-13127738	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1030835	chr9:12717405-12840928	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv892573	chr9:12730636-12874703	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv892574	chr9:12754969-12918226	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12785400-12808800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:12785800-12797200	Weak transcription	Aorta	Aorta
3	chr9:12785800-12798200	Weak transcription	HSMMtube	muscle
4	chr9:12785800-12802200	Weak transcription	Left Ventricle	heart
5	chr9:12785800-12813600	Weak transcription	Fetal Intestine Large	intestine
6	chr9:12786000-12797000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr9:12786000-12813600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr9:12786000-12813600	Weak transcription	Fetal Intestine Small	intestine
9	chr9:12786400-12798400	Weak transcription	Brain Hippocampus Middle	brain
10	chr9:12787000-12796800	Weak transcription	NHEK	skin
11	chr9:12789200-12798600	Enhancers	NHDF-Ad	bronchial
12	chr9:12790400-12796800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr9:12791000-12797200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr9:12792000-12817200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr9:12792600-12798200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr9:12793600-12796800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr9:12794400-12796400	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr9:12794400-12798600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:12794600-12796800	Enhancers	Fetal Lung	lung
20	chr9:12794800-12796400	Weak transcription	Colon Smooth Muscle	Colon
21	chr9:12794800-12796600	Weak transcription	Osteobl	bone
22	chr9:12794800-12796800	Weak transcription	Stomach Mucosa	stomach
23	chr9:12794800-12811800	Weak transcription	Hela-S3	cervix
24	chr9:12795000-12796400	Weak transcription	A549	lung
25	chr9:12795000-12796800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr9:12795000-12796800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr9:12795000-12809400	Weak transcription	HepG2	liver
28	chr9:12795800-12796600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr9:12795800-12796800	Weak transcription	NHLF	lung
30	chr9:12795800-12797200	Weak transcription	Adipose Nuclei	Adipose
31	chr9:12795800-12802200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr9:12795800-12813400	Weak transcription	Fetal Kidney	kidney
33	chr9:12795800-12813800	Weak transcription	Fetal Stomach	stomach
34	chr9:12796200-12797200	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr9:12796200-12797800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr9:12796200-12798800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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