Variant report

Variant	rs2372359
Chromosome Location	chr3:43298974-43298975
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10212591	0.85[AFR][1000 genomes]
rs11129997	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11129998	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11130003	0.80[YRI][hapmap]
rs1120779	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11713302	1.00[AMR][1000 genomes]
rs12632805	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1320157	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1320159	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1395373	1.00[MEX][hapmap]
rs1472807	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs1506618	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs1996496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2036616	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes]
rs2135510	1.00[AMR][1000 genomes]
rs2372353	1.00[AMR][1000 genomes]
rs2372357	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2372358	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2888311	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4234427	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4234466	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4339089	1.00[AMR][1000 genomes]
rs4346523	1.00[ASW][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs4405884	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4420837	1.00[AMR][1000 genomes]
rs4425230	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4470482	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4569634	1.00[ASW][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs4618196	1.00[AMR][1000 genomes]
rs4642093	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4682673	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4682674	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4682681	1.00[ASW][hapmap];1.00[LWK][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4682684	1.00[AMR][1000 genomes]
rs4682884	1.00[ASW][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs4682889	1.00[AMR][1000 genomes]
rs4683365	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4683368	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6441771	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes]
rs6442145	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6765835	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6766825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6767741	1.00[AMR][1000 genomes]
rs6775392	1.00[ASW][hapmap];0.84[LWK][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs6784075	1.00[AMR][1000 genomes]
rs6791682	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6793755	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7616072	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7632743	1.00[ASW][hapmap]
rs7636644	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7648023	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7651091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs906156	1.00[ASW][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs906157	1.00[ASW][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs906158	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs937827	1.00[ASW][hapmap];1.00[AMR][1000 genomes]
rs9755005	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs984345	1.00[AMR][1000 genomes]
rs9859465	0.86[AFR][1000 genomes];1.00[AMR][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	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:36 , 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	chr3:43290400-43299400	Weak transcription	Right Atrium	heart
3	chr3:43290800-43300800	Weak transcription	Brain Anterior Caudate	brain
4	chr3:43294200-43300800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:43296200-43300600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr3:43296400-43300000	Enhancers	Primary hematopoietic stem cells	blood
7	chr3:43296400-43300400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr3:43296400-43300400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:43296600-43299600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr3:43296800-43305800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:43297200-43299800	Enhancers	Spleen	Spleen
12	chr3:43297200-43300200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr3:43297400-43299400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr3:43297400-43299800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr3:43297400-43299800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr3:43297400-43299800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr3:43297800-43299800	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr3:43297800-43301000	Enhancers	Primary B cells from peripheral blood	blood
19	chr3:43298000-43299000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr3:43298000-43299000	Bivalent Enhancer	HepG2	liver
21	chr3:43298000-43299800	Enhancers	Primary T cells fromperipheralblood	blood
22	chr3:43298200-43299600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr3:43298200-43299600	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr3:43298200-43300000	Enhancers	Fetal Thymus	thymus
25	chr3:43298400-43299000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr3:43298400-43299400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr3:43298400-43299600	Enhancers	Primary T cells from cord blood	blood
28	chr3:43298400-43299600	Enhancers	Thymus	Thymus
29	chr3:43298400-43299800	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr3:43298400-43299800	Enhancers	Left Ventricle	heart
31	chr3:43298400-43300600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:43298600-43299600	Enhancers	Adipose Nuclei	Adipose
33	chr3:43298800-43299200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr3:43298800-43299200	Weak transcription	Lung	lung
35	chr3:43298800-43299600	Weak transcription	Esophagus	oesophagus
36	chr3:43298800-43300000	Enhancers	Primary B cells from cord blood	blood

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