Variant report

Variant	rs56070243
Chromosome Location	chr12:118570868-118570869
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:118497651..118499895-chr12:118570277..118572267,2	MCF-7	breast:
2	chr12:118558694..118561471-chr12:118568462..118574858,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176834	Chromatin interaction
ENSG00000176871	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12423154	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12423959	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2017414	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2936840	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3847652	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61943518	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61943519	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61943521	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73217996	0.86[ASN][1000 genomes]
rs7956285	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7961197	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7970036	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118542600-118572800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr12:118542600-118573400	Weak transcription	Primary T cells from cord blood	blood
3	chr12:118552800-118572800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:118552800-118573400	Weak transcription	Aorta	Aorta
5	chr12:118553000-118573000	Weak transcription	Fetal Brain Female	brain
6	chr12:118558800-118572800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr12:118559200-118572600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:118559200-118572600	Weak transcription	NHEK	skin
9	chr12:118559200-118572800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:118559200-118573000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:118559200-118573000	Weak transcription	Fetal Kidney	kidney
12	chr12:118559200-118573400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:118559200-118573400	Weak transcription	Fetal Intestine Small	intestine
14	chr12:118559400-118572600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:118559400-118572800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:118560800-118572800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:118561600-118572800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:118561600-118573000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:118563200-118573400	Weak transcription	Lung	lung
20	chr12:118564200-118572800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:118564400-118573200	Weak transcription	Fetal Stomach	stomach
22	chr12:118565000-118572800	Weak transcription	Gastric	stomach
23	chr12:118565200-118572800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:118566800-118573200	Weak transcription	Right Atrium	heart
25	chr12:118567400-118573200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:118569400-118572600	Enhancers	Liver	Liver
27	chr12:118569800-118572600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr12:118569800-118572800	Weak transcription	Placenta	Placenta
29	chr12:118569800-118573400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr12:118569800-118573600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr12:118570000-118572600	Weak transcription	Hela-S3	cervix
32	chr12:118570000-118573000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr12:118570200-118572200	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr12:118570200-118572200	Weak transcription	GM12878-XiMat	blood
35	chr12:118570200-118572400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr12:118570200-118572600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:118570200-118572600	Weak transcription	Brain Hippocampus Middle	brain
38	chr12:118570200-118572600	Weak transcription	Brain Substantia Nigra	brain
39	chr12:118570200-118572600	Weak transcription	A549	lung
40	chr12:118570200-118572800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:118570200-118572800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:118570200-118572800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr12:118570200-118572800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:118570200-118572800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:118570200-118572800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr12:118570200-118572800	Weak transcription	Fetal Muscle Leg	muscle
47	chr12:118570200-118572800	Weak transcription	Ovary	ovary
48	chr12:118570200-118572800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr12:118570200-118572800	Weak transcription	NHDF-Ad	bronchial
50	chr12:118570200-118573000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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