Variant report

Variant	rs13421625
Chromosome Location	chr2:190391137-190391138
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10173590	0.84[AFR][1000 genomes]
rs10181208	0.81[AFR][1000 genomes]
rs10188755	0.84[AFR][1000 genomes]
rs10208697	0.81[AFR][1000 genomes]
rs13387511	0.81[AFR][1000 genomes]
rs13417445	0.91[AFR][1000 genomes]
rs13432175	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190380400-190391800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:190384800-190393400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:190386600-190398200	Weak transcription	Aorta	Aorta
4	chr2:190387600-190391800	Weak transcription	HSMM	muscle
5	chr2:190387600-190392000	Weak transcription	Pancreas	Pancrea
6	chr2:190387600-190393400	Weak transcription	Right Atrium	heart
7	chr2:190387600-190397000	Weak transcription	Placenta	Placenta
8	chr2:190387800-190391400	Weak transcription	Fetal Kidney	kidney
9	chr2:190387800-190391600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:190387800-190391800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:190387800-190392000	Weak transcription	Brain Substantia Nigra	brain
12	chr2:190387800-190392000	Weak transcription	Fetal Heart	heart
13	chr2:190388000-190391400	Weak transcription	Adipose Nuclei	Adipose
14	chr2:190388000-190391400	Weak transcription	Fetal Lung	lung
15	chr2:190388000-190391600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:190388000-190391600	Weak transcription	Ovary	ovary
17	chr2:190388000-190391800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:190388000-190391800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:190388000-190391800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:190388000-190392000	Weak transcription	HSMMtube	muscle
21	chr2:190388200-190391800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:190388200-190391800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:190388400-190391600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:190388400-190393000	Weak transcription	A549	lung
25	chr2:190389200-190392000	Weak transcription	Stomach Mucosa	stomach
26	chr2:190389400-190391600	Weak transcription	Liver	Liver
27	chr2:190389600-190391400	Weak transcription	Colonic Mucosa	Colon
28	chr2:190389600-190392000	Weak transcription	Small Intestine	intestine
29	chr2:190389800-190392000	Weak transcription	HepG2	liver
30	chr2:190390000-190391400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr2:190390000-190392000	Weak transcription	Fetal Intestine Small	intestine
32	chr2:190390000-190397200	Weak transcription	Fetal Intestine Large	intestine
33	chr2:190390200-190391600	Weak transcription	Duodenum Mucosa	Duodenum

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