Variant report

Variant	rs1002330
Chromosome Location	chr17:46253515-46253516
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46240659..46244208-chr17:46251439..46255142,4	MCF-7	breast:
2	chr17:46252245..46255136-chr17:46259026..46261295,2	K562	blood:

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs1010228	0.80[ASN][1000 genomes]
rs1010230	0.80[ASN][1000 genomes]
rs10445339	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10445377	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10853098	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11079809	0.80[ASN][1000 genomes]
rs11079814	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11870056	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11872095	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12150533	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12452956	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12603115	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12603380	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12936369	0.82[ASN][1000 genomes]
rs12941830	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12947089	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12948810	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12952670	0.82[EUR][1000 genomes]
rs1316657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1377201	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1452662	0.80[ASN][1000 genomes]
rs1452663	0.80[ASN][1000 genomes]
rs1452665	0.80[ASN][1000 genomes]
rs1452666	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1452667	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16953927	0.80[ASN][1000 genomes]
rs16953941	0.80[ASN][1000 genomes]
rs17620033	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17681336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1860862	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1860863	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1860866	0.80[ASN][1000 genomes]
rs2021752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2021811	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2041572	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2060876	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs208005	0.84[ASN][1000 genomes]
rs208008	0.84[ASN][1000 genomes]
rs208009	0.84[ASN][1000 genomes]
rs208011	0.82[ASN][1000 genomes]
rs208012	0.82[ASN][1000 genomes]
rs208019	0.84[ASN][1000 genomes]
rs2109982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2109983	0.80[ASN][1000 genomes]
rs2123341	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2278868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2305433	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2325784	0.83[ASN][1000 genomes]
rs2325804	0.84[ASN][1000 genomes]
rs2325885	0.80[ASN][1000 genomes]
rs2938483	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34949267	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34980108	0.80[ASN][1000 genomes]
rs36071506	0.80[ASN][1000 genomes]
rs3744346	0.80[ASN][1000 genomes]
rs3792692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3805363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3805370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3805371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3815472	0.84[ASN][1000 genomes]
rs3897986	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3944039	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4793779	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4794447	0.89[ASN][1000 genomes]
rs4794505	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4794517	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4794525	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55696440	0.82[ASN][1000 genomes]
rs55982346	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62066407	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62066447	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6504108	0.96[ASN][1000 genomes]
rs66683298	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs67446770	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71356521	0.82[ASN][1000 genomes]
rs7209730	0.80[ASN][1000 genomes]
rs7210149	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7213876	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7219967	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7220619	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7220768	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7220922	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7222136	0.80[ASN][1000 genomes]
rs7223867	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7224461	0.80[ASN][1000 genomes]
rs7225435	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7225550	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7225865	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs741058	0.80[ASN][1000 genomes]
rs7501770	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs758999	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8069064	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8069263	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8072282	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8075270	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8079616	0.84[ASN][1000 genomes]
rs882380	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs954226	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9807087	0.80[ASN][1000 genomes]
rs9903692	0.82[ASN][1000 genomes]
rs9909933	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv908576	chr17:46147807-46260366	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 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	chr17:46239200-46253800	Weak transcription	Primary B cells from peripheral blood	blood
2	chr17:46247000-46258600	Weak transcription	Primary B cells from cord blood	blood
3	chr17:46247800-46254400	Weak transcription	Fetal Thymus	thymus
4	chr17:46250200-46255200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr17:46251000-46257400	Enhancers	HSMMtube	muscle
6	chr17:46251200-46253600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr17:46251200-46254400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr17:46251200-46267200	Strong transcription	Primary T cells from cord blood	blood
9	chr17:46251200-46277400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr17:46251800-46253600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr17:46251800-46254200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr17:46251800-46256000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr17:46251800-46267400	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr17:46252000-46271400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr17:46252200-46253800	Genic enhancers	GM12878-XiMat	blood
16	chr17:46252200-46254600	Enhancers	Osteobl	bone
17	chr17:46252400-46254000	Enhancers	Primary hematopoietic stem cells	blood
18	chr17:46252400-46254200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr17:46252400-46254200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr17:46252400-46254600	Enhancers	NH-A	brain
21	chr17:46252600-46257000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr17:46252600-46271000	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr17:46252800-46260200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr17:46253000-46253800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr17:46253000-46253800	Enhancers	HMEC	breast
26	chr17:46253000-46253800	Enhancers	NHDF-Ad	bronchial
27	chr17:46253000-46254600	Enhancers	Fetal Muscle Leg	muscle
28	chr17:46253000-46257600	Strong transcription	Thymus	Thymus
29	chr17:46253000-46260200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr17:46253200-46253600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr17:46253200-46253800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr17:46253200-46254000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr17:46253200-46270800	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr17:46253400-46253600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr17:46253400-46254000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr17:46253400-46255000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr17:46253400-46257400	Enhancers	HSMM	muscle
38	chr17:46253400-46260800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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