Variant report

Variant	rs7570328
Chromosome Location	chr2:190477529-190477530
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190477204..190481164-chr2:190482832..190486445,4	K562	blood:
2	chr2:190442674..190450266-chr2:190472603..190483585,23	K562	blood:
3	chr2:190476983..190479563-chr2:190480733..190482678,3	K562	blood:
4	chr2:190441425..190452696-chr2:190467093..190481176,34	K562	blood:
5	chr2:188410825..188412949-chr2:190475105..190477931,2	K562	blood:
6	chr2:190304755..190306689-chr2:190476838..190478787,2	K562	blood:

Variant related genes	Relation type
ENSG00000115368	Chromatin interaction
ENSG00000138449	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10931427	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4667291	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60339626	1.00[AMR][1000 genomes]
rs7562466	1.00[AMR][1000 genomes]
rs7599914	1.00[YRI][hapmap];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:43 , 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	chr2:190473800-190478000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:190474600-190477800	Enhancers	Fetal Heart	heart
6	chr2:190475400-190477600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:190475800-190477800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:190476000-190477800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:190476400-190477600	Enhancers	K562	blood
10	chr2:190476600-190477600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:190476800-190477600	Enhancers	Ovary	ovary
12	chr2:190476800-190477600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr2:190476800-190477800	Enhancers	Primary hematopoietic stem cells	blood
14	chr2:190476800-190477800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:190476800-190477800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:190476800-190477800	Enhancers	NHLF	lung
17	chr2:190476800-190478600	Flanking Active TSS	Hela-S3	cervix
18	chr2:190476800-190479600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:190476800-190480600	Enhancers	Placenta	Placenta
20	chr2:190477200-190477600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:190477200-190477600	Enhancers	Adipose Nuclei	Adipose
22	chr2:190477200-190477600	Enhancers	HUVEC	blood vessel
23	chr2:190477200-190477800	Enhancers	Liver	Liver
24	chr2:190477200-190477800	Enhancers	Duodenum Mucosa	Duodenum
25	chr2:190477200-190477800	Enhancers	Fetal Kidney	kidney
26	chr2:190477200-190477800	Enhancers	Osteobl	bone
27	chr2:190477200-190478400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:190477200-190478600	Enhancers	Fetal Intestine Small	intestine
29	chr2:190477200-190478800	Enhancers	Stomach Mucosa	stomach
30	chr2:190477200-190478800	Flanking Active TSS	A549	lung
31	chr2:190477400-190477600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:190477400-190477600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:190477400-190477600	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr2:190477400-190477800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr2:190477400-190477800	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr2:190477400-190477800	Enhancers	NH-A	brain
37	chr2:190477400-190477800	Enhancers	NHEK	skin
38	chr2:190477400-190478200	Flanking Active TSS	Fetal Lung	lung
39	chr2:190477400-190478200	Flanking Active TSS	HepG2	liver
40	chr2:190477400-190478400	Active TSS	Right Atrium	heart
41	chr2:190477400-190478600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:190477400-190478800	Enhancers	NHDF-Ad	bronchial
43	chr2:190477400-190479000	Enhancers	HSMM	muscle

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