Variant report

Variant	rs11692210
Chromosome Location	chr2:62734185-62734186
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:62732738-62734302	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr2:62732023-62734199	A549	lung:	n/a	chr2:62732906-62732915 chr2:62733706-62733715

No.	Distal block	Cell Line	Cell type
1	chr2:62732196..62734647-chr2:62932204..62934327,2	K562	blood:
2	chr2:62733287..62736036-chr2:62952497..62954456,3	MCF-7	breast:
3	chr2:62732443..62734653-chr2:62900758..62903078,2	MCF-7	breast:
4	chr2:62730719..62734296-chr2:62930912..62935708,9	MCF-7	breast:
5	chr2:62731472..62734976-chr2:62932827..62936526,3	K562	blood:
6	chr2:62731742..62734497-chr2:62931519..62934102,3	MCF-7	breast:

Variant related genes	Relation type
TMEM17	TF binding region
ENSG00000115504	Chromatin interaction
ENSG00000252436	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11678340	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11682732	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11690138	0.83[AMR][1000 genomes]
rs12989129	0.81[AMR][1000 genomes]
rs12993270	0.81[AMR][1000 genomes]
rs12998202	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13035483	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34264648	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34282247	0.80[AMR][1000 genomes]
rs36006708	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4075354	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4514865	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66636810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72805589	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72805590	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][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	nsv535766	chr2:62177655-62929746	Bivalent/Poised TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv916190	chr2:62233785-63006200	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv932487	chr2:62258290-63006200	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv2751	chr2:62691264-62737131	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62732600-62734200	Active TSS	K562	blood
2	chr2:62732600-62734600	Active TSS	Liver	Liver
3	chr2:62732600-62734800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:62732800-62734200	Active TSS	A549	lung
5	chr2:62733000-62734400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:62733200-62734400	Active TSS	HMEC	breast
7	chr2:62733400-62734200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:62733600-62734200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:62733600-62734200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:62733600-62734200	Flanking Active TSS	Fetal Intestine Large	intestine
11	chr2:62733800-62734200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:62733800-62734200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr2:62733800-62734200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:62733800-62734200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr2:62733800-62734200	Flanking Active TSS	NHEK	skin
16	chr2:62734000-62734200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:62734000-62734200	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr2:62734000-62734200	Enhancers	Adipose Nuclei	Adipose
19	chr2:62734000-62734200	Enhancers	Stomach Smooth Muscle	stomach
20	chr2:62734000-62734200	Enhancers	HSMMtube	muscle
21	chr2:62734000-62734200	Enhancers	HUVEC	blood vessel
22	chr2:62734000-62734200	Enhancers	NHDF-Ad	bronchial
23	chr2:62734000-62734400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:62734000-62734400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr2:62734000-62734400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr2:62734000-62734400	Enhancers	Fetal Stomach	stomach
27	chr2:62734000-62734400	Active TSS	NHLF	lung
28	chr2:62734000-62734400	Enhancers	Osteobl	bone
29	chr2:62734000-62734800	Enhancers	Fetal Intestine Small	intestine
30	chr2:62734000-62735000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:62734000-62735800	Weak transcription	HepG2	liver
32	chr2:62734000-62736600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:62734000-62736600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:62734000-62740000	Weak transcription	Ovary	ovary

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