Variant report

Variant	rs73978702
Chromosome Location	chr2:190385839-190385840
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190380308..190383170-chr2:190385325..190387858,2	K562	blood:
2	chr2:190385297..190387397-chr2:190391167..190392889,2	K562	blood:
3	chr2:190384894..190386815-chr2:190444070..190446490,2	K562	blood:
4	chr2:190379388..190384195-chr2:190384322..190387858,5	K562	blood:

Variant related genes	Relation type
ENSG00000138449	Chromatin interaction

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]
rs56941749	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]
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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190376000-190386000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:190379800-190386600	Weak transcription	Psoas Muscle	Psoas
3	chr2:190380400-190391800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:190380800-190386000	Weak transcription	Stomach Mucosa	stomach
5	chr2:190382000-190387200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr2:190383000-190386600	Weak transcription	HSMMtube	muscle
7	chr2:190383400-190387400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:190383600-190386600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:190384400-190389400	Enhancers	Liver	Liver
10	chr2:190384400-190390000	Enhancers	Fetal Intestine Large	intestine
11	chr2:190384400-190390000	Enhancers	Fetal Intestine Small	intestine
12	chr2:190384800-190393400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:190385000-190386600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:190385000-190387400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:190385200-190386200	Weak transcription	Fetal Lung	lung
16	chr2:190385600-190386400	Weak transcription	Ovary	ovary
17	chr2:190385600-190386400	Enhancers	A549	lung
18	chr2:190385600-190387800	Enhancers	K562	blood
19	chr2:190385800-190386000	Enhancers	Aorta	Aorta
20	chr2:190385800-190386400	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr2:190385800-190387000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:190385800-190387000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr2:190385800-190387600	Enhancers	Placenta	Placenta
24	chr2:190385800-190387800	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr2:190385800-190388000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:190385800-190388000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr2:190385800-190388000	Enhancers	Small Intestine	intestine

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