Variant report

Variant	rs10783223
Chromosome Location	chr12:48341722-48341723
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48339969..48342316-chr12:48356625..48358827,2	MCF-7	breast:
2	chr12:48264048..48264830-chr12:48341419..48342254,2	MCF-7	breast:
3	chr12:48290096..48306593-chr12:48332606..48350271,44	MCF-7	breast:
4	chr12:48294459..48300703-chr12:48338090..48345573,18	MCF-7	breast:
5	chr12:48298743..48300449-chr12:48341597..48344109,2	K562	blood:
6	chr12:48337310..48342034-chr12:48342237..48346016,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134291	Chromatin interaction
ENSG00000111424	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10783222	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11168325	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4073726	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4340112	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4459375	0.84[EUR][1000 genomes]
rs7970376	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48335800-48346000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr12:48336600-48343200	Weak transcription	Right Ventricle	heart
3	chr12:48337800-48343200	Weak transcription	Pancreas	Pancrea
4	chr12:48338400-48342400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:48338400-48348800	Enhancers	HMEC	breast
6	chr12:48338800-48343200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:48339000-48341800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:48339200-48342400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:48339800-48341800	Enhancers	Fetal Lung	lung
10	chr12:48340200-48341800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:48340400-48341800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:48340400-48344200	Enhancers	Esophagus	oesophagus
13	chr12:48340800-48341800	Enhancers	Fetal Muscle Leg	muscle
14	chr12:48340800-48341800	Enhancers	Fetal Stomach	stomach
15	chr12:48340800-48343000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:48340800-48343000	Weak transcription	NHDF-Ad	bronchial
17	chr12:48341000-48341800	Enhancers	Duodenum Mucosa	Duodenum
18	chr12:48341000-48343000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr12:48341000-48343000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:48341000-48343000	Weak transcription	Fetal Intestine Large	intestine
21	chr12:48341000-48343000	Weak transcription	A549	lung
22	chr12:48341000-48343000	Weak transcription	Osteobl	bone
23	chr12:48341000-48343200	Weak transcription	Spleen	Spleen
24	chr12:48341000-48344200	Enhancers	HSMM	muscle
25	chr12:48341200-48341800	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr12:48341200-48341800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:48341200-48341800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:48341200-48342200	Weak transcription	HepG2	liver
29	chr12:48341200-48342800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:48341200-48342800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr12:48341200-48343400	Enhancers	NHEK	skin
32	chr12:48341200-48343800	Enhancers	HSMMtube	muscle
33	chr12:48341200-48347600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:48341400-48342800	Weak transcription	Colonic Mucosa	Colon
35	chr12:48341400-48343000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:48341400-48343000	Weak transcription	Fetal Intestine Small	intestine
37	chr12:48341400-48343200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr12:48341400-48343800	Enhancers	Fetal Muscle Trunk	muscle
39	chr12:48341600-48342000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:48341600-48342400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:48341600-48342400	Weak transcription	Ovary	ovary
42	chr12:48341600-48342800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:48341600-48342800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:48341600-48342800	Weak transcription	Placenta	Placenta
45	chr12:48341600-48342800	Weak transcription	Hela-S3	cervix
46	chr12:48341600-48342800	Weak transcription	NHLF	lung
47	chr12:48341600-48343000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:48341600-48343400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:48341600-48343400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr12:48341600-48343400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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