Variant report

Variant	rs10183116
Chromosome Location	chr2:100308700-100308701
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10167100	0.86[EUR][1000 genomes]
rs10182731	0.82[EUR][1000 genomes]
rs10185240	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10189976	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10205134	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11123791	0.87[EUR][1000 genomes]
rs11123792	0.87[EUR][1000 genomes]
rs11676683	0.87[EUR][1000 genomes]
rs13387031	0.80[AMR][1000 genomes]
rs13400157	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13431170	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13431191	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1524366	0.87[EUR][1000 genomes]
rs1916959	0.86[EUR][1000 genomes]
rs2030689	0.86[EUR][1000 genomes]
rs2177540	0.92[ASN][1000 genomes]
rs2309724	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2309725	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4410333	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4611689	0.87[EUR][1000 genomes]
rs4850911	0.86[EUR][1000 genomes]
rs4850912	0.87[EUR][1000 genomes]
rs6542886	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6542889	0.93[ASN][1000 genomes]
rs6709165	0.87[EUR][1000 genomes]
rs6719965	0.87[EUR][1000 genomes]
rs6720070	0.86[EUR][1000 genomes]
rs6734773	0.87[EUR][1000 genomes]
rs6758962	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72817062	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7557598	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7560182	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7566953	0.87[EUR][1000 genomes]
rs870560	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9308828	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9679019	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100253200-100308800	Weak transcription	Gastric	stomach
2	chr2:100264000-100328600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:100286600-100336800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:100291200-100310800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:100294600-100318400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:100295600-100311800	Weak transcription	Fetal Brain Female	brain
7	chr2:100296200-100311600	Weak transcription	Fetal Brain Male	brain
8	chr2:100297000-100312400	Weak transcription	Fetal Lung	lung
9	chr2:100299600-100310800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:100303600-100336800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:100305000-100309600	Enhancers	Fetal Muscle Leg	muscle
12	chr2:100305200-100318000	Weak transcription	Primary T cells from cord blood	blood
13	chr2:100306000-100313600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:100306000-100317200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:100306200-100308800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:100307200-100309600	Strong transcription	Primary B cells from cord blood	blood
17	chr2:100307400-100309200	Enhancers	HSMMtube	muscle
18	chr2:100307400-100309400	Enhancers	Placenta	Placenta
19	chr2:100307600-100309000	Enhancers	Left Ventricle	heart
20	chr2:100307800-100309000	Enhancers	Esophagus	oesophagus
21	chr2:100307800-100309400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr2:100307800-100313600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr2:100308000-100309200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:100308000-100309200	Enhancers	Spleen	Spleen
25	chr2:100308200-100309000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:100308400-100308800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr2:100308400-100309000	Enhancers	Adipose Nuclei	Adipose
28	chr2:100308400-100309200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:100308400-100309200	Enhancers	Fetal Muscle Trunk	muscle
30	chr2:100308400-100309200	Enhancers	Right Atrium	heart
31	chr2:100308600-100308800	Enhancers	Psoas Muscle	Psoas
32	chr2:100308600-100308800	Enhancers	Thymus	Thymus
33	chr2:100308600-100309000	Enhancers	Lung	lung
34	chr2:100308600-100309200	Enhancers	Ovary	ovary

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