Variant report

Variant	rs16962994
Chromosome Location	chr15:50152948-50152949
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:50152597..50155381-chr15:50174380..50176402,2	MCF-7	breast:
2	chr15:50152463..50154135-chr15:50155726..50157493,2	K562	blood:
3	chr15:50148243..50150121-chr15:50151281..50153807,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10519242	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1059850	1.00[CEU][hapmap];0.94[GIH][hapmap];0.93[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1059851	1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs1059852	1.00[JPT][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs11070733	0.83[ASN][1000 genomes]
rs11630021	1.00[JPT][hapmap];0.86[MEX][hapmap];0.84[MKK][hapmap];0.87[TSI][hapmap]
rs11632077	1.00[JPT][hapmap]
rs11632116	1.00[JPT][hapmap]
rs11633343	0.80[MEX][hapmap]
rs11633465	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11633470	1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11633571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11633714	1.00[JPT][hapmap];0.80[MEX][hapmap]
rs11633744	1.00[JPT][hapmap];0.80[MEX][hapmap];0.83[TSI][hapmap]
rs11633759	1.00[JPT][hapmap]
rs11853881	1.00[JPT][hapmap]
rs12185124	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12372951	0.86[EUR][1000 genomes]
rs12907836	0.85[MEX][hapmap]
rs12909447	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12914231	1.00[JPT][hapmap]
rs12915207	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13329598	1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs16962999	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17486425	1.00[JPT][hapmap]
rs17486446	1.00[JPT][hapmap];0.80[MEX][hapmap]
rs17486663	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17487811	1.00[JPT][hapmap]
rs2413975	1.00[JPT][hapmap]
rs28550208	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28706888	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34404202	0.80[EUR][1000 genomes]
rs4275793	0.81[EUR][1000 genomes]
rs4347574	1.00[MEX][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes]
rs4494482	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4494483	1.00[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.87[TSI][hapmap];0.86[YRI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4544192	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.87[TSI][hapmap];0.86[YRI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493383	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7170482	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7172585	0.83[ASN][1000 genomes]
rs7497350	0.92[GIH][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8025533	1.00[JPT][hapmap];0.80[MEX][hapmap]
rs8031452	1.00[JPT][hapmap]
rs8036570	1.00[JPT][hapmap]
rs8038434	1.00[CHB][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.83[ASN][1000 genomes]
rs8041979	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8042458	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.85[TSI][hapmap];0.80[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	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv833003	chr15:50100372-50273309	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs16962994	EIF3J	cis	cerebellum	SCAN
rs16962994	CATSPER2	cis	cerebellum	SCAN
rs16962994	CATSPER2P1	cis	cerebellum	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50135200-50181400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr15:50135800-50187400	Weak transcription	Liver	Liver
3	chr15:50138200-50189800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr15:50140200-50155600	Weak transcription	Ovary	ovary
5	chr15:50144400-50159800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:50145600-50200400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:50146400-50160000	Strong transcription	Primary hematopoietic stem cells	blood
8	chr15:50147200-50158400	Enhancers	NHDF-Ad	bronchial
9	chr15:50147400-50153400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr15:50147400-50153400	Enhancers	Osteobl	bone
11	chr15:50149400-50155400	Weak transcription	Placenta	Placenta
12	chr15:50149400-50198000	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr15:50149600-50153400	Enhancers	Hela-S3	cervix
14	chr15:50149600-50153800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr15:50149600-50160600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr15:50149600-50160800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr15:50150000-50155800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr15:50151200-50153000	Enhancers	NHLF	lung
19	chr15:50151200-50153400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr15:50151600-50156600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr15:50151800-50155600	Weak transcription	A549	lung
22	chr15:50152000-50155000	Weak transcription	HMEC	breast
23	chr15:50152000-50157400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr15:50152400-50155400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr15:50152400-50155400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr15:50152400-50155600	Weak transcription	Adipose Nuclei	Adipose
27	chr15:50152800-50153600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr15:50152800-50154800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr15:50152800-50155200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr15:50152800-50155400	Weak transcription	Right Atrium	heart
31	chr15:50152800-50155600	Weak transcription	HSMM	muscle
32	chr15:50152800-50157800	Weak transcription	Fetal Muscle Leg	muscle

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