Variant report

Variant	rs988317
Chromosome Location	chr2:20263287-20263288
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20263163..20266090-chr2:20292667..20294337,2	MCF-7	breast:
2	chr2:20262539..20265067-chr2:20270708..20273020,3	K562	blood:
3	chr2:20214721..20216712-chr2:20262631..20264995,2	K562	blood:

rs_ID	r²[population]
rs10191137	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10201104	0.83[AMR][1000 genomes]
rs10210388	0.83[AMR][1000 genomes]
rs13412576	0.83[AMR][1000 genomes]
rs13421480	0.83[AMR][1000 genomes]

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20252400-20266000	Weak transcription	Pancreas	Pancrea
2	chr2:20253200-20264400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:20260600-20264200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:20260600-20266600	Enhancers	Fetal Muscle Leg	muscle
5	chr2:20261400-20263400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:20261400-20265600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:20261600-20263400	Enhancers	HSMM	muscle
8	chr2:20261800-20263400	Enhancers	Rectal Smooth Muscle	rectum
9	chr2:20261800-20266800	Enhancers	Placenta	Placenta
10	chr2:20262000-20265600	Enhancers	HepG2	liver
11	chr2:20262200-20265600	Weak transcription	Colonic Mucosa	Colon
12	chr2:20262200-20265800	Weak transcription	Right Ventricle	heart
13	chr2:20262400-20263400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:20262400-20263400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:20262400-20263400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr2:20262400-20264000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:20262600-20263400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:20262600-20263400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:20262600-20263400	Enhancers	Osteobl	bone
20	chr2:20262600-20263800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:20262600-20265600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:20262800-20263400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:20262800-20264000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:20262800-20264800	Weak transcription	HSMMtube	muscle
25	chr2:20262800-20265600	Weak transcription	Adipose Nuclei	Adipose
26	chr2:20262800-20265600	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:20262800-20265600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:20262800-20265600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:20262800-20267600	Weak transcription	Fetal Kidney	kidney
30	chr2:20262800-20267600	Weak transcription	Fetal Lung	lung
31	chr2:20263200-20263400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:20263200-20265800	Weak transcription	Fetal Stomach	stomach
33	chr2:20263200-20265800	Weak transcription	Stomach Smooth Muscle	stomach

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