Variant report

Variant	rs13384930
Chromosome Location	chr2:190476087-190476088
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190442674..190450266-chr2:190472603..190483585,23	K562	blood:
2	chr2:190470661..190472275-chr2:190474479..190476655,2	MCF-7	breast:
3	chr2:190441425..190452696-chr2:190467093..190481176,34	K562	blood:
4	chr2:188410825..188412949-chr2:190475105..190477931,2	K562	blood:
5	chr2:190468548..190471787-chr2:190473209..190476617,5	K562	blood:

Variant related genes	Relation type
ENSG00000138449	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13396993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13403567	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13403679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13410922	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190469600-190477600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:190470800-190477600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:190472800-190477800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr2:190473400-190476800	Enhancers	Hela-S3	cervix
5	chr2:190473800-190478000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:190474000-190477400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:190474400-190477400	Weak transcription	HSMM	muscle
8	chr2:190474400-190477400	Weak transcription	NHEK	skin
9	chr2:190474600-190476600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:190474600-190476800	Weak transcription	Ovary	ovary
11	chr2:190474600-190477800	Enhancers	Fetal Heart	heart
12	chr2:190474800-190476800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:190474800-190476800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:190474800-190476800	Weak transcription	Placenta	Placenta
15	chr2:190474800-190477200	Weak transcription	Stomach Mucosa	stomach
16	chr2:190474800-190477400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:190475000-190476800	Weak transcription	Fetal Lung	lung
18	chr2:190475000-190477200	Weak transcription	Osteobl	bone
19	chr2:190475000-190477400	Weak transcription	NHDF-Ad	bronchial
20	chr2:190475200-190476800	Weak transcription	NHLF	lung
21	chr2:190475200-190477200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:190475400-190476800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr2:190475400-190477200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:190475400-190477600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:190475600-190476600	Weak transcription	HepG2	liver
26	chr2:190475600-190476800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:190475800-190476800	Weak transcription	A549	lung
28	chr2:190475800-190477800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:190476000-190476400	Weak transcription	K562	blood
30	chr2:190476000-190477800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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