Variant report

Variant	rs1320157
Chromosome Location	chr3:43285369-43285370
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10212591	0.93[AFR][1000 genomes]
rs11129997	1.00[AMR][1000 genomes]
rs11129998	1.00[AMR][1000 genomes]
rs1120779	1.00[MEX][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs11713302	1.00[AMR][1000 genomes]
rs12632805	0.89[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1320159	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1395373	1.00[MEX][hapmap]
rs1472807	1.00[MEX][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs1506618	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs1996496	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2036616	1.00[MEX][hapmap];0.80[YRI][hapmap]
rs2135510	1.00[AMR][1000 genomes]
rs2372353	1.00[AMR][1000 genomes]
rs2372357	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2372358	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2372359	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2888311	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs4234427	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4234466	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4339089	1.00[AMR][1000 genomes]
rs4346523	1.00[MEX][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs4405884	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4420837	1.00[AMR][1000 genomes]
rs4425230	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4470482	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4569634	1.00[MEX][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs4642093	1.00[MEX][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs4682673	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4682674	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4682681	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs4682684	1.00[AMR][1000 genomes]
rs4682884	1.00[MEX][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs4682889	1.00[AMR][1000 genomes]
rs4683365	0.89[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4683368	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs535994	1.00[ASW][hapmap]
rs552472	1.00[ASW][hapmap]
rs6441771	1.00[MEX][hapmap];0.80[YRI][hapmap]
rs6442145	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6765835	1.00[AMR][1000 genomes]
rs6766825	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6767741	1.00[AMR][1000 genomes]
rs6775392	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs6784075	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs6791682	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6793755	1.00[AMR][1000 genomes]
rs7616072	1.00[AMR][1000 genomes]
rs7636644	1.00[MEX][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs7648023	1.00[AMR][1000 genomes]
rs7651091	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs906156	1.00[MEX][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs906157	1.00[MEX][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs906158	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs937827	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs9755005	1.00[AMR][1000 genomes]
rs984345	1.00[AMR][1000 genomes]
rs9859465	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43284200-43285400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr3:43284200-43286400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr3:43284200-43289800	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr3:43284400-43288400	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr3:43284400-43289800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr3:43284400-43290000	Enhancers	Primary T cells fromperipheralblood	blood
7	chr3:43284400-43290000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr3:43284400-43290400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:43284400-43300400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:43284600-43287400	Enhancers	Fetal Muscle Leg	muscle
11	chr3:43284600-43289400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr3:43284600-43290000	Enhancers	Primary T cells from cord blood	blood
13	chr3:43284800-43285400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr3:43284800-43289400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr3:43285000-43285400	Bivalent Enhancer	Osteobl	bone
16	chr3:43285000-43285600	Weak transcription	Adipose Nuclei	Adipose
17	chr3:43285000-43285800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:43285000-43286000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr3:43285000-43286200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr3:43285000-43288000	Enhancers	HUVEC	blood vessel
21	chr3:43285000-43289600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr3:43285000-43289600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr3:43285200-43285400	Weak transcription	Thymus	Thymus
24	chr3:43285200-43285400	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
25	chr3:43285200-43285800	Enhancers	Lung	lung
26	chr3:43285200-43286400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:43285200-43286400	Enhancers	Spleen	Spleen
28	chr3:43285200-43286600	Enhancers	Primary hematopoietic stem cells	blood
29	chr3:43285200-43286800	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr3:43285200-43286800	Enhancers	Psoas Muscle	Psoas
31	chr3:43285200-43290000	Enhancers	Primary B cells from peripheral blood	blood

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