Variant report

Variant	rs4417750
Chromosome Location	chr2:190381931-190381932
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10206036	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692009	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4461290	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs744653	0.80[EUR][1000 genomes];1.00[ASN][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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190376000-190386000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:190376400-190382000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:190376600-190384800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:190377400-190383000	Weak transcription	Fetal Lung	lung
5	chr2:190378200-190385800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:190378400-190382000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr2:190379600-190382400	Enhancers	K562	blood
8	chr2:190379800-190386600	Weak transcription	Psoas Muscle	Psoas
9	chr2:190380000-190382000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr2:190380400-190391800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:190380800-190382600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:190380800-190385800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:190380800-190385800	Weak transcription	Aorta	Aorta
14	chr2:190380800-190386000	Weak transcription	Stomach Mucosa	stomach
15	chr2:190381000-190383800	Weak transcription	Ovary	ovary
16	chr2:190381800-190382000	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr2:190381800-190385800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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