Variant report

Variant	rs3783570
Chromosome Location	chr2:113544007-113544008
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	chr2:113519458..113523816-chr2:113539890..113544534,4	K562	blood:

Variant related genes	Relation type
ENSG00000169607	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs3783583	1.00[AFR][1000 genomes]
rs41332549	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs61190947	0.85[AFR][1000 genomes]
rs72952121	0.92[AFR][1000 genomes]
rs72952124	0.92[AFR][1000 genomes]
rs73955265	0.85[AFR][1000 genomes]
rs884659	1.00[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][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	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113534000-113551800	Weak transcription	Fetal Heart	heart
2	chr2:113542000-113545200	Weak transcription	Adipose Nuclei	Adipose
3	chr2:113542200-113545600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:113542400-113545000	Weak transcription	Primary B cells from cord blood	blood
5	chr2:113542400-113545200	Enhancers	HUVEC	blood vessel
6	chr2:113542400-113546600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:113542400-113559200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:113542600-113544600	Weak transcription	K562	blood
9	chr2:113542600-113545000	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr2:113542600-113548600	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr2:113543000-113544200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:113543000-113544400	Enhancers	NHEK	skin
13	chr2:113543000-113545600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:113543000-113547800	Weak transcription	Hela-S3	cervix
15	chr2:113543000-113562200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:113543200-113544400	Weak transcription	HMEC	breast
17	chr2:113543200-113544600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr2:113543200-113548600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:113543400-113544600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:113543600-113548800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:113543600-113548800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:113543800-113545200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:113543800-113548600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:113544000-113545600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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