Variant report

Variant	rs13078053
Chromosome Location	chr3:46146984-46146985
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46145999..46148966-chr3:46149561..46152328,4	K562	blood:
2	chr3:46145905..46148811-chr3:46150645..46152455,3	MCF-7	breast:
3	chr3:46145999..46148622-chr3:46149561..46152053,3	K562	blood:

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs1072755	0.84[CEU][hapmap]
rs11130080	0.89[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap]
rs11130085	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11130086	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1118879	0.92[ASN][1000 genomes]
rs11917890	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11929281	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12485978	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs12495073	0.85[CEU][hapmap];0.82[ASN][1000 genomes]
rs12496322	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12629632	0.92[ASN][1000 genomes]
rs12630101	0.84[CEU][hapmap];0.86[JPT][hapmap]
rs12635657	0.85[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs12637023	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12639598	0.88[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap]
rs13059919	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13060901	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs13065737	0.92[ASN][1000 genomes]
rs13066048	0.85[CEU][hapmap]
rs13073861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13077099	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13077923	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13082280	0.90[ASN][1000 genomes]
rs13434029	0.90[ASN][1000 genomes]
rs13434336	0.90[ASN][1000 genomes]
rs1392290	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs1491959	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs1500005	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1546077	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs1546078	0.93[ASN][1000 genomes]
rs1546079	0.81[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs1552489	0.84[CEU][hapmap]
rs1602579	0.92[ASN][1000 genomes]
rs1604069	0.89[ASN][1000 genomes]
rs17078577	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1909595	0.86[ASN][1000 genomes]
rs1909596	0.89[ASN][1000 genomes]
rs1976366	0.93[ASN][1000 genomes]
rs1976367	0.93[ASN][1000 genomes]
rs1994490	0.86[JPT][hapmap]
rs2036292	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2054866	0.84[CEU][hapmap]
rs2131091	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2220678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2248228	0.92[CEU][hapmap]
rs2373150	0.90[ASN][1000 genomes]
rs2373151	0.90[ASN][1000 genomes]
rs2373153	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2373154	0.84[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs34067839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34381514	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35359253	0.92[ASN][1000 genomes]
rs35462017	0.92[ASN][1000 genomes]
rs35567508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36111470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3733100	0.87[JPT][hapmap];1.00[YRI][hapmap]
rs3774634	0.85[CEU][hapmap]
rs3774639	0.84[CEU][hapmap]
rs3796375	0.88[CEU][hapmap];0.86[JPT][hapmap]
rs3821884	0.86[JPT][hapmap]
rs3851347	0.87[CHB][hapmap]
rs4318588	0.90[ASN][1000 genomes]
rs4333119	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4535265	0.84[CEU][hapmap]
rs4682806	0.91[ASN][1000 genomes]
rs4682809	0.93[ASN][1000 genomes]
rs4682810	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs4683148	0.80[CEU][hapmap]
rs4683157	0.85[CEU][hapmap]
rs4683175	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4683176	0.82[EUR][1000 genomes]
rs4683178	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56307311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59521415	0.92[ASN][1000 genomes]
rs61079448	0.92[ASN][1000 genomes]
rs6441944	0.92[ASN][1000 genomes]
rs6764042	0.86[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs6772051	0.84[ASN][1000 genomes]
rs6776028	0.88[ASN][1000 genomes]
rs6780163	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs6784214	0.93[ASN][1000 genomes]
rs6794103	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6794475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6795629	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs6800484	0.90[ASN][1000 genomes]
rs6805094	0.80[ASN][1000 genomes]
rs6808074	0.84[ASN][1000 genomes]
rs6809381	0.95[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs730983	0.89[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap]
rs737452	0.88[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap]
rs751552	0.88[CEU][hapmap];0.86[JPT][hapmap]
rs751553	0.88[CEU][hapmap];0.86[JPT][hapmap]
rs7610518	0.92[ASN][1000 genomes]
rs7616464	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7623460	0.85[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs7631598	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7643426	0.81[CHB][hapmap]
rs9311386	0.89[ASN][1000 genomes]
rs9311387	0.89[ASN][1000 genomes]
rs936938	0.85[CEU][hapmap]
rs9637425	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9824886	0.90[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs9831315	0.81[CEU][hapmap]
rs9870445	0.89[ASN][1000 genomes]
rs9876587	0.89[ASN][1000 genomes]
rs9990063	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46129200-46147400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:46129400-46154200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr3:46131400-46152200	Weak transcription	Pancreas	Pancrea
4	chr3:46139200-46150600	Weak transcription	Lung	lung
5	chr3:46140400-46149200	Weak transcription	NHLF	lung
6	chr3:46140400-46150000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr3:46140600-46150000	Weak transcription	Hela-S3	cervix
8	chr3:46140600-46150000	Weak transcription	HMEC	breast
9	chr3:46140800-46150000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr3:46141000-46148800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr3:46141000-46150200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr3:46142800-46147400	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr3:46143200-46150600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:46143400-46147400	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr3:46143800-46153000	Enhancers	Fetal Thymus	thymus
16	chr3:46144200-46147400	Enhancers	Primary T cells fromperipheralblood	blood
17	chr3:46144800-46149200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr3:46144800-46150600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:46145000-46147800	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr3:46145200-46152400	Enhancers	Dnd41	blood
21	chr3:46145800-46147400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr3:46145800-46147800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr3:46146000-46147400	Enhancers	Primary B cells from peripheral blood	blood
24	chr3:46146000-46147400	Enhancers	Esophagus	oesophagus
25	chr3:46146000-46147400	Enhancers	Fetal Stomach	stomach
26	chr3:46146000-46147400	Enhancers	GM12878-XiMat	blood
27	chr3:46146000-46148000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr3:46146200-46147200	Enhancers	Primary B cells from cord blood	blood
29	chr3:46146200-46148000	Enhancers	Fetal Lung	lung
30	chr3:46146200-46150200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr3:46146400-46150400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:46146400-46150600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr3:46146600-46147400	Enhancers	Spleen	Spleen
34	chr3:46146600-46150200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr3:46146800-46147200	Enhancers	Primary T cells from cord blood	blood
36	chr3:46146800-46147600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr3:46146800-46149200	Weak transcription	Placenta	Placenta
38	chr3:46146800-46164400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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