Variant report

Variant	rs56941749
Chromosome Location	chr2:190384533-190384534
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190379388..190384195-chr2:190384322..190387858,5	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1225102	1.00[AMR][1000 genomes]
rs55979997	1.00[AMR][1000 genomes]
rs56087520	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56207532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57804388	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59752566	1.00[AMR][1000 genomes]
rs73978670	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978671	0.85[AFR][1000 genomes]
rs73978672	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980205	0.81[AFR][1000 genomes];1.00[AMR][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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190376000-190386000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:190376600-190384800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:190378200-190385800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:190379800-190386600	Weak transcription	Psoas Muscle	Psoas
5	chr2:190380400-190391800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:190380800-190385800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:190380800-190385800	Weak transcription	Aorta	Aorta
8	chr2:190380800-190386000	Weak transcription	Stomach Mucosa	stomach
9	chr2:190381800-190385800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:190382000-190385800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:190382000-190387200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr2:190382800-190385200	Enhancers	K562	blood
13	chr2:190383000-190386600	Weak transcription	HSMMtube	muscle
14	chr2:190383200-190385800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:190383400-190387400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:190383600-190386600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:190383800-190385000	Enhancers	Ovary	ovary
18	chr2:190383800-190385200	Enhancers	Fetal Lung	lung
19	chr2:190384000-190384800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr2:190384000-190384800	Enhancers	Placenta	Placenta
21	chr2:190384200-190385200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:190384400-190384800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:190384400-190389400	Enhancers	Liver	Liver
24	chr2:190384400-190390000	Enhancers	Fetal Intestine Large	intestine
25	chr2:190384400-190390000	Enhancers	Fetal Intestine Small	intestine

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