Variant report

Variant	rs62161975
Chromosome Location	chr2:114217145-114217146
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11793698	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12349815	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2262066	0.90[AMR][1000 genomes]
rs2592413	1.00[ASN][1000 genomes]
rs2785419	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2998944	1.00[ASN][1000 genomes]
rs3897365	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4025634	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60676041	1.00[ASN][1000 genomes]
rs61270964	1.00[ASN][1000 genomes]
rs61352486	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62530930	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62530932	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62530933	0.80[AMR][1000 genomes]
rs62530938	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62531965	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62531967	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62532006	1.00[ASN][1000 genomes]
rs62532015	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62532024	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62532038	0.80[AMR][1000 genomes]
rs7040250	1.00[ASN][1000 genomes]
rs7040668	1.00[ASN][1000 genomes]
rs7048876	0.86[EUR][1000 genomes]
rs73370593	1.00[ASN][1000 genomes]
rs73638080	1.00[ASN][1000 genomes]
rs7867257	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757826	chr2:114074949-114253780	Enhancers Strong transcription Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2759085	chr2:114074949-114428678	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1002255	chr2:114120037-114236620	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv18442	chr2:114167656-114267309	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv1802875	chr2:114167899-114317895	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv10130	chr2:114171428-114254459	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv834334	chr2:114175740-114338827	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv874902	chr2:114179202-114300577	Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv979105	chr2:114192364-114228793	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv961492	chr2:114192364-114236951	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv874903	chr2:114207677-114291917	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114196000-114219600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:114196000-114221400	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr2:114196000-114221600	Weak transcription	Fetal Thymus	thymus
4	chr2:114196000-114224800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:114196000-114226600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:114196000-114227800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:114196200-114219800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:114196200-114220400	Weak transcription	Osteobl	bone
9	chr2:114196200-114220800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr2:114196200-114221200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:114196200-114221800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:114196200-114222000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:114196200-114223400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:114196200-114230800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr2:114196200-114234000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:114196200-114238400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:114196200-114242200	Weak transcription	Fetal Intestine Small	intestine
18	chr2:114196200-114255400	Weak transcription	Adipose Nuclei	Adipose
19	chr2:114196400-114222200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:114196600-114222000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:114196600-114222000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr2:114196600-114228600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:114196600-114234800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:114196600-114235400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:114196600-114241200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:114196600-114247000	Weak transcription	Liver	Liver
27	chr2:114200400-114221200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:114202800-114256400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:114203000-114219800	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr2:114203000-114229800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:114203000-114230200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:114204600-114219600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:114204600-114223800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:114204600-114230400	Weak transcription	Dnd41	blood
35	chr2:114204600-114234400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:114211800-114219000	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr2:114215400-114219800	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr2:114216200-114225000	Weak transcription	Rectal Mucosa Donor 29	rectum

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