Variant report

Variant	rs4252006
Chromosome Location	chr2:113885591-113885592
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113881539..113883723-chr2:113885379..113887857,3	K562	blood:
2	chr2:113874258..113877773-chr2:113883397..113886122,3	MCF-7	breast:
3	chr2:113882796..113885709-chr2:113913605..113916421,2	MCF-7	breast:
4	chr2:113885182..113887115-chr2:113914110..113915669,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136689	Chromatin interaction
ENSG00000125637	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17043041	1.00[CHD][hapmap]
rs3738910	1.00[JPT][hapmap]
rs4251954	1.00[AMR][1000 genomes]
rs4251994	1.00[AMR][1000 genomes]
rs4252022	1.00[AMR][1000 genomes]
rs4252023	1.00[AMR][1000 genomes]
rs4252028	1.00[AMR][1000 genomes]
rs72950894	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1007254	chr2:113726982-113887782	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv535894	chr2:113726982-113887782	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1003928	chr2:113846503-113887782	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1013513	chr2:113876914-113893482	Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4252006	POTEB	trans	lymphoblastoid	seeQTL

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113875400-113887400	Weak transcription	Spleen	Spleen
2	chr2:113876000-113887400	Weak transcription	Gastric	stomach
3	chr2:113876000-113896200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:113882600-113886000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr2:113882600-113890000	Weak transcription	Lung	lung
6	chr2:113882800-113889200	Weak transcription	Stomach Mucosa	stomach
7	chr2:113882800-113891200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:113883200-113885800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:113883200-113886400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:113883200-113888600	Weak transcription	HMEC	breast
11	chr2:113883400-113891000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:113883800-113886200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr2:113884600-113885800	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr2:113884600-113885800	Enhancers	Placenta	Placenta
15	chr2:113885000-113885600	Active TSS	Primary monocytes fromperipheralblood	blood
16	chr2:113885000-113885600	Weak transcription	Primary T cells from cord blood	blood
17	chr2:113885000-113885600	Active TSS	Monocytes-CD14+_RO01746	blood
18	chr2:113885000-113886400	Active TSS	Liver	Liver
19	chr2:113885000-113886400	Flanking Bivalent TSS/Enh	HepG2	liver
20	chr2:113885000-113890400	Strong transcription	NHEK	skin
21	chr2:113885200-113885600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:113885200-113885600	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr2:113885200-113886400	Active TSS	Fetal Muscle Leg	muscle
24	chr2:113885200-113887800	Active TSS	Primary hematopoietic stem cells	blood
25	chr2:113885200-113887800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:113885200-113892200	Strong transcription	Esophagus	oesophagus
27	chr2:113885400-113885800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:113885400-113886600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr2:113885400-113890400	Weak transcription	Fetal Thymus	thymus

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