Variant report

Variant	rs2433279
Chromosome Location	chr1:93907909-93907910
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93903697..93905547-chr1:93907055..93909310,2	MCF-7	breast:
2	chr1:93906923..93909332-chr1:93912549..93915542,3	MCF-7	breast:
3	chr1:93899795..93902659-chr1:93905298..93908245,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137942	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11164936	0.83[ASN][1000 genomes]
rs11164939	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11164941	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12034656	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1593516	0.92[ASN][1000 genomes]
rs17109958	0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs237438	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs2624436	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3767966	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4847431	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs61780647	0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs61784068	0.91[ASN][1000 genomes]
rs6541379	0.82[AMR][1000 genomes]
rs7543847	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][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	nsv871640	chr1:93807122-93953469	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93901000-93912800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:93901200-93912200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:93901800-93912800	Weak transcription	NH-A	brain
4	chr1:93904200-93912200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:93906400-93912000	Weak transcription	HepG2	liver
6	chr1:93907000-93908000	Enhancers	Fetal Intestine Small	intestine
7	chr1:93907200-93908600	Enhancers	Fetal Intestine Large	intestine
8	chr1:93907200-93908600	Enhancers	Stomach Mucosa	stomach
9	chr1:93907200-93909400	Enhancers	Hela-S3	cervix
10	chr1:93907200-93909600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:93907600-93908000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:93907600-93908000	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr1:93907600-93908200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:93907600-93908400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:93907600-93908400	Enhancers	NHDF-Ad	bronchial
16	chr1:93907600-93908600	Enhancers	Duodenum Mucosa	Duodenum
17	chr1:93907600-93908600	Enhancers	K562	blood
18	chr1:93907800-93908000	Enhancers	Placenta Amnion	Placenta Amnion
19	chr1:93907800-93908200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr1:93907800-93908200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:93907800-93908200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:93907800-93908200	Enhancers	Adipose Nuclei	Adipose
23	chr1:93907800-93908200	Enhancers	Pancreas	Pancrea
24	chr1:93907800-93908200	Enhancers	HMEC	breast
25	chr1:93907800-93908200	Enhancers	HSMM	muscle
26	chr1:93907800-93908400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr1:93907800-93908400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:93907800-93908400	Flanking Active TSS	A549	lung
29	chr1:93907800-93908600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr1:93907800-93908600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr1:93907800-93908600	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr1:93907800-93908800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:93907800-93908800	Enhancers	NHEK	skin

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