Variant report

Variant	rs9311384
Chromosome Location	chr3:46103974-46103975
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46103249..46106082-chr3:46119956..46121890,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1388605	1.00[JPT][hapmap]
rs1388608	0.90[ASN][1000 genomes]
rs1392293	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1546076	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1809733	1.00[JPT][hapmap]
rs2036293	1.00[ASN][1000 genomes]
rs2133666	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2373148	0.81[CEU][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs4321566	0.81[ASN][1000 genomes]
rs4490404	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4493468	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683171	1.00[ASN][1000 genomes]
rs4683172	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683173	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6764189	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6786959	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6809223	0.83[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs7622333	0.83[CEU][hapmap]
rs7638309	0.83[CEU][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs9311383	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9311385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9820016	1.00[CHD][hapmap];1.00[JPT][hapmap]

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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2756987	chr3:46016464-46120400	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2759145	chr3:46016464-46120400	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv1805205	chr3:46032847-46111081	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46096400-46106200	Weak transcription	Lung	lung
2	chr3:46099000-46105400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr3:46101000-46106400	Weak transcription	Primary B cells from cord blood	blood
4	chr3:46101200-46104200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr3:46101600-46107000	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr3:46101800-46104200	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr3:46102200-46105200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:46102400-46105200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:46102600-46105600	Enhancers	Adipose Nuclei	Adipose
10	chr3:46102800-46105200	Enhancers	Aorta	Aorta
11	chr3:46103400-46104200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:46103400-46105200	Enhancers	Left Ventricle	heart
13	chr3:46103400-46113600	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr3:46103600-46104400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr3:46103600-46104400	Enhancers	Right Atrium	heart
16	chr3:46103600-46104400	Enhancers	Spleen	Spleen
17	chr3:46103600-46105000	Enhancers	Right Ventricle	heart
18	chr3:46103600-46105400	Enhancers	Ovary	ovary
19	chr3:46103600-46107000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr3:46103800-46105000	Enhancers	Psoas Muscle	Psoas
21	chr3:46103800-46105200	Enhancers	Fetal Heart	heart
22	chr3:46103800-46106000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr3:46103800-46106800	Enhancers	GM12878-XiMat	blood
24	chr3:46103800-46113200	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr3:46103800-46114200	Enhancers	Primary T helper naive cells from peripheral blood	blood

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