Variant report

Variant	rs1604069
Chromosome Location	chr3:46112185-46112186
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	chr3:46106956..46110561-chr3:46110945..46113902,3	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs11130085	0.92[ASN][1000 genomes]
rs11130086	0.91[ASN][1000 genomes]
rs1118879	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11917890	0.92[ASN][1000 genomes]
rs11929281	0.92[ASN][1000 genomes]
rs12485978	0.92[ASN][1000 genomes]
rs12496322	0.92[ASN][1000 genomes]
rs12629632	0.92[ASN][1000 genomes]
rs12637023	0.93[ASN][1000 genomes]
rs13059919	0.84[ASN][1000 genomes]
rs13060901	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13065737	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13073861	0.89[ASN][1000 genomes]
rs13077099	0.92[ASN][1000 genomes]
rs13077923	0.88[ASN][1000 genomes]
rs13078053	0.89[ASN][1000 genomes]
rs13082280	0.90[ASN][1000 genomes]
rs13098271	0.85[ASN][1000 genomes]
rs13434029	0.90[ASN][1000 genomes]
rs13434336	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1392290	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1491959	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1500005	0.85[ASN][1000 genomes]
rs1546077	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1546078	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1602579	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17078577	0.93[ASN][1000 genomes]
rs1909595	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1909596	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1976366	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1976367	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2036292	0.84[ASN][1000 genomes]
rs2131091	0.88[ASN][1000 genomes]
rs2201984	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2220678	0.88[ASN][1000 genomes]
rs2373150	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2373151	0.90[ASN][1000 genomes]
rs2373153	0.85[ASN][1000 genomes]
rs2373154	0.81[ASN][1000 genomes]
rs34067839	0.88[ASN][1000 genomes]
rs34381514	0.85[ASN][1000 genomes]
rs34906043	0.85[ASN][1000 genomes]
rs35359253	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35435608	0.85[ASN][1000 genomes]
rs35462017	0.92[ASN][1000 genomes]
rs35567508	0.89[ASN][1000 genomes]
rs35657218	0.85[ASN][1000 genomes]
rs36111470	0.88[ASN][1000 genomes]
rs3851347	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4314213	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4318588	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4333119	0.85[ASN][1000 genomes]
rs4682806	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4682809	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4682810	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4683168	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4683175	0.93[ASN][1000 genomes]
rs4683178	0.92[ASN][1000 genomes]
rs56307311	0.88[ASN][1000 genomes]
rs59521415	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61079448	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6441944	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6764042	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6766515	0.80[EUR][1000 genomes]
rs6776028	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6784214	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6794103	0.92[ASN][1000 genomes]
rs6794475	0.85[ASN][1000 genomes]
rs6795629	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6800484	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6805094	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6809381	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7610518	0.92[ASN][1000 genomes]
rs7616464	0.85[ASN][1000 genomes]
rs7623190	0.80[EUR][1000 genomes]
rs7623460	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7631598	0.86[ASN][1000 genomes]
rs7642701	0.85[ASN][1000 genomes]
rs9311386	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9311387	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9637425	0.93[ASN][1000 genomes]
rs9824886	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9849015	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9870445	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9876587	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9990063	0.83[EUR][1000 genomes];0.97[ASN][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	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

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46103400-46113600	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr3:46103800-46113200	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr3:46103800-46114200	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr3:46104000-46113400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr3:46104200-46113600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr3:46104600-46114000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr3:46107400-46113800	Enhancers	Primary T cells from cord blood	blood
8	chr3:46107600-46112200	Weak transcription	GM12878-XiMat	blood
9	chr3:46107600-46112800	Enhancers	Dnd41	blood
10	chr3:46107600-46114200	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr3:46109800-46112200	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr3:46109800-46112400	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr3:46110400-46112200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr3:46111000-46112800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr3:46111600-46113600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr3:46111800-46112200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
17	chr3:46111800-46113000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:46112000-46112200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:46112000-46112200	Enhancers	Stomach Mucosa	stomach
20	chr3:46112000-46112400	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr3:46112000-46112600	Enhancers	Primary hematopoietic stem cells	blood
22	chr3:46112000-46112600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr3:46112000-46113000	Enhancers	Monocytes-CD14+_RO01746	blood

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