Variant report

Variant	rs4682675
Chromosome Location	chr3:43297435-43297436
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:43294226..43299346-chr3:43301138..43304009,5	K562	blood:
2	chr3:43286357..43288077-chr3:43294555..43297435,2	K562	blood:
3	chr3:43296454..43299346-chr3:43300698..43303972,3	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs11129996	0.95[ASN][1000 genomes]
rs12715387	0.94[ASN][1000 genomes]
rs12715388	0.94[ASN][1000 genomes]
rs13059783	0.94[ASN][1000 genomes]
rs13060695	0.94[ASN][1000 genomes]
rs13066699	0.94[ASN][1000 genomes]
rs13074235	0.90[ASN][1000 genomes]
rs13085652	0.94[ASN][1000 genomes]
rs1316296	0.95[EUR][1000 genomes]
rs1316297	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1320156	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1320158	0.94[ASN][1000 genomes]
rs1573931	0.95[ASN][1000 genomes]
rs17075317	0.92[CHB][hapmap];0.85[JPT][hapmap]
rs17075335	0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17075342	0.95[EUR][1000 genomes]
rs17075378	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17075381	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17075398	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1814902	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2372352	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2372354	0.91[ASN][1000 genomes]
rs2372355	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2372356	0.94[ASN][1000 genomes]
rs2888295	0.94[ASN][1000 genomes]
rs2888296	0.94[ASN][1000 genomes]
rs4016130	0.89[ASN][1000 genomes]
rs4260403	0.95[ASN][1000 genomes]
rs4404425	0.94[ASN][1000 genomes]
rs4419357	0.91[ASN][1000 genomes]
rs4444688	0.94[ASN][1000 genomes]
rs4585168	0.95[EUR][1000 genomes]
rs4637262	0.94[ASN][1000 genomes]
rs4682677	0.83[EUR][1000 genomes]
rs4682872	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4682874	0.88[EUR][1000 genomes]
rs4682875	0.89[EUR][1000 genomes]
rs4682876	0.87[EUR][1000 genomes]
rs4682879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683363	0.88[ASN][1000 genomes]
rs4683364	0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4683366	1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs4683367	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4683369	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6442144	0.91[ASN][1000 genomes]
rs6762503	0.92[ASN][1000 genomes]
rs6781696	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6798619	0.86[ASN][1000 genomes]
rs6805075	0.88[ASN][1000 genomes]
rs7611123	0.95[EUR][1000 genomes]
rs7621298	0.85[JPT][hapmap]
rs7621511	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7627198	0.94[ASN][1000 genomes]
rs7636673	0.89[ASN][1000 genomes]
rs7639584	0.92[ASN][1000 genomes]
rs7639605	0.89[ASN][1000 genomes]
rs7648154	0.83[ASN][1000 genomes]
rs9311334	0.88[ASN][1000 genomes]
rs9311335	0.94[ASN][1000 genomes]
rs9311336	0.94[ASN][1000 genomes]
rs9681394	0.82[CEU][hapmap];0.85[JPT][hapmap];0.88[EUR][1000 genomes]
rs9683242	1.00[CEU][hapmap];0.86[JPT][hapmap];0.95[EUR][1000 genomes]
rs9809273	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9820946	0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9822961	0.92[ASN][1000 genomes]
rs9826102	0.94[ASN][1000 genomes]
rs9826849	0.94[ASN][1000 genomes]
rs9827911	0.94[ASN][1000 genomes]
rs9833793	0.89[ASN][1000 genomes]
rs9852399	0.95[ASN][1000 genomes]
rs9853795	0.88[ASN][1000 genomes]
rs9858012	0.90[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs9860007	0.94[ASN][1000 genomes]
rs9860364	0.92[ASN][1000 genomes]
rs9861337	0.92[ASN][1000 genomes]
rs9861529	0.92[ASN][1000 genomes]
rs9875582	0.84[CHB][hapmap]

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	nsv834672	chr3:43132722-43306272	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2752008	chr3:43285369-43360879	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1009102	chr3:43285369-43369712	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr3:43284400-43300400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:43285800-43298400	Weak transcription	Left Ventricle	heart
3	chr3:43290400-43299400	Weak transcription	Right Atrium	heart
4	chr3:43290800-43300800	Weak transcription	Brain Anterior Caudate	brain
5	chr3:43294200-43300800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr3:43296200-43297800	Enhancers	Stomach Smooth Muscle	stomach
7	chr3:43296200-43300600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr3:43296400-43298800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:43296400-43298800	Enhancers	Lung	lung
10	chr3:43296400-43300000	Enhancers	Primary hematopoietic stem cells	blood
11	chr3:43296400-43300400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr3:43296400-43300400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:43296600-43299600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr3:43296800-43305800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:43297200-43299800	Enhancers	Spleen	Spleen
16	chr3:43297200-43300200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr3:43297400-43297600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:43297400-43297600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:43297400-43297600	Enhancers	Esophagus	oesophagus
20	chr3:43297400-43297600	Enhancers	Fetal Thymus	thymus
21	chr3:43297400-43298000	Enhancers	Primary B cells from cord blood	blood
22	chr3:43297400-43299400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr3:43297400-43299800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr3:43297400-43299800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr3:43297400-43299800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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