Variant report

Variant	rs4332968
Chromosome Location	chr2:100319273-100319274
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10175788	0.82[ASN][1000 genomes]
rs10182690	0.84[ASN][1000 genomes]
rs10191816	0.91[ASN][1000 genomes]
rs10199818	0.89[ASN][1000 genomes]
rs11123790	0.80[EUR][1000 genomes]
rs11123793	0.93[ASN][1000 genomes]
rs11123794	0.91[ASN][1000 genomes]
rs11123795	0.91[ASN][1000 genomes]
rs11682978	0.91[ASN][1000 genomes]
rs11690403	0.91[ASN][1000 genomes]
rs11888741	0.89[ASN][1000 genomes]
rs12712054	0.80[EUR][1000 genomes]
rs12712059	0.91[ASN][1000 genomes]
rs13010551	0.89[ASN][1000 genomes]
rs13030932	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13407928	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13428668	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1404175	0.91[ASN][1000 genomes]
rs1404176	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1404177	0.91[ASN][1000 genomes]
rs1464757	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1996984	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2030691	0.82[ASN][1000 genomes]
rs2030692	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2030693	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2049400	0.94[CEU][hapmap]
rs2115601	0.84[ASN][1000 genomes]
rs2163044	0.84[ASN][1000 genomes]
rs2309690	0.89[ASN][1000 genomes]
rs2309729	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2871316	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34116173	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34369751	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3863005	0.91[ASN][1000 genomes]
rs3863006	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3915083	0.91[ASN][1000 genomes]
rs4850910	0.80[EUR][1000 genomes]
rs4850914	0.88[ASN][1000 genomes]
rs4851220	0.80[EUR][1000 genomes]
rs4851221	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4851225	0.89[ASN][1000 genomes]
rs4851226	0.89[ASN][1000 genomes]
rs4851228	0.91[ASN][1000 genomes]
rs4851229	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4851230	0.91[ASN][1000 genomes]
rs4851232	0.82[ASN][1000 genomes]
rs4851234	0.82[ASN][1000 genomes]
rs62150081	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6542890	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6705966	0.84[ASN][1000 genomes]
rs6721652	0.82[ASN][1000 genomes]
rs6732358	0.84[ASN][1000 genomes]
rs6738724	0.80[EUR][1000 genomes]
rs6739478	0.91[ASN][1000 genomes]
rs6739601	0.89[ASN][1000 genomes]
rs6741990	0.91[ASN][1000 genomes]
rs6744510	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6745568	0.80[EUR][1000 genomes]
rs6746146	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6748557	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6756009	0.91[ASN][1000 genomes]
rs6756821	0.82[ASN][1000 genomes]
rs6757262	0.91[ASN][1000 genomes]
rs6758027	0.91[ASN][1000 genomes]
rs7559975	0.91[ASN][1000 genomes]
rs7561009	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7565155	0.84[ASN][1000 genomes]
rs7573572	0.84[ASN][1000 genomes]
rs7579222	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7582469	0.91[ASN][1000 genomes]
rs7584365	0.89[ASN][1000 genomes]
rs7602699	0.82[ASN][1000 genomes]
rs7604536	0.84[ASN][1000 genomes]
rs868665	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9308826	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9308827	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9308829	0.84[ASN][1000 genomes]
rs9678859	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
3	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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100264000-100328600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:100286600-100336800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:100303600-100336800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:100309200-100320800	Weak transcription	Gastric	stomach
5	chr2:100309200-100323200	Weak transcription	Spleen	Spleen
6	chr2:100310800-100323400	Strong transcription	Primary B cells from cord blood	blood
7	chr2:100312000-100320800	Weak transcription	Left Ventricle	heart
8	chr2:100312400-100321800	Weak transcription	Fetal Brain Female	brain
9	chr2:100313600-100321800	Strong transcription	Primary B cells from peripheral blood	blood
10	chr2:100315000-100320600	Weak transcription	Fetal Heart	heart
11	chr2:100315000-100322600	Weak transcription	Adipose Nuclei	Adipose
12	chr2:100315000-100336800	Weak transcription	Aorta	Aorta
13	chr2:100315400-100322800	Weak transcription	Fetal Kidney	kidney
14	chr2:100316000-100320200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:100316000-100320400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:100316000-100320400	Weak transcription	Osteobl	bone
17	chr2:100316200-100320200	Weak transcription	NH-A	brain
18	chr2:100316200-100327200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:100316800-100321800	Weak transcription	Dnd41	blood
20	chr2:100317600-100320200	Weak transcription	Ovary	ovary
21	chr2:100317800-100320200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:100317800-100320800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:100317800-100320800	Weak transcription	Pancreas	Pancrea
24	chr2:100317800-100322800	Weak transcription	Fetal Muscle Leg	muscle
25	chr2:100317800-100323200	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:100317800-100326800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:100317800-100327200	Weak transcription	Right Atrium	heart
28	chr2:100318400-100322400	Weak transcription	Fetal Lung	lung
29	chr2:100318600-100320400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:100318600-100320400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:100318600-100321400	Weak transcription	Primary T cells from cord blood	blood
32	chr2:100318800-100320000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:100318800-100321800	Weak transcription	Fetal Brain Male	brain

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