Variant report

Variant	rs67391479
Chromosome Location	chr15:43004351-43004352
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	chr15:43002992..43005620-chr15:43005783..43008129,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10400824	0.80[EUR][1000 genomes]
rs12102055	0.94[EUR][1000 genomes]
rs12906497	0.87[EUR][1000 genomes]
rs12912064	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12914570	0.81[ASN][1000 genomes]
rs12917018	0.87[EUR][1000 genomes]
rs16957020	0.81[EUR][1000 genomes]
rs16957091	0.88[EUR][1000 genomes]
rs16957104	0.89[EUR][1000 genomes]
rs1915241	0.88[EUR][1000 genomes]
rs1995939	0.91[EUR][1000 genomes]
rs2136900	0.89[EUR][1000 genomes]
rs2136901	0.81[EUR][1000 genomes]
rs2280048	0.89[EUR][1000 genomes]
rs2305084	0.84[EUR][1000 genomes]
rs2412740	0.91[EUR][1000 genomes]
rs28549876	0.87[EUR][1000 genomes]
rs28562951	0.88[EUR][1000 genomes]
rs28798437	0.80[EUR][1000 genomes]
rs3199486	0.91[EUR][1000 genomes]
rs34191150	0.81[EUR][1000 genomes]
rs35616173	0.81[EUR][1000 genomes]
rs3742987	0.88[EUR][1000 genomes]
rs4265781	0.87[EUR][1000 genomes]
rs4924690	0.86[EUR][1000 genomes]
rs4924691	0.81[EUR][1000 genomes]
rs6493059	0.82[EUR][1000 genomes]
rs6493061	0.80[EUR][1000 genomes]
rs6493063	0.82[EUR][1000 genomes]
rs7163030	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7166775	0.86[EUR][1000 genomes]
rs7167392	0.82[EUR][1000 genomes]
rs7169009	0.87[EUR][1000 genomes]
rs7169202	0.87[EUR][1000 genomes]
rs7175582	0.86[EUR][1000 genomes]
rs7182141	0.82[EUR][1000 genomes]
rs7182479	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8026233	0.87[EUR][1000 genomes]
rs8027427	0.87[EUR][1000 genomes]
rs8034664	0.88[EUR][1000 genomes]
rs8043472	0.86[EUR][1000 genomes]
rs9269	0.87[EUR][1000 genomes]
rs9783713	0.86[EUR][1000 genomes]
rs9919994	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv427959	chr15:42931181-43207353	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv457122	chr15:42948862-43062548	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv569238	chr15:42948862-43062548	Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv517553	chr15:42970899-43023482	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
6	esv2763096	chr15:42989603-43009399	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs67391479	CATSPER2	cis	brain	BrainEAC

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42908800-43015000	Weak transcription	Fetal Kidney	kidney
2	chr15:42975600-43011400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr15:42976600-43015200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:42977000-43011600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr15:42977000-43016600	Weak transcription	Hela-S3	cervix
6	chr15:42978200-43010400	Weak transcription	Thymus	Thymus
7	chr15:42978800-43012000	Weak transcription	NH-A	brain
8	chr15:42979200-43011000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr15:42979600-43010000	Weak transcription	GM12878-XiMat	blood
10	chr15:42979800-43010600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr15:42980400-43010400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr15:42981400-43015000	Weak transcription	HSMM	muscle
13	chr15:42981600-43009800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr15:42981600-43011000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr15:42981800-43010000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr15:42984000-43014800	Weak transcription	K562	blood
17	chr15:42986000-43018400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr15:42987200-43010000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr15:42987800-43008800	Weak transcription	Aorta	Aorta
20	chr15:42987800-43016400	Weak transcription	Esophagus	oesophagus
21	chr15:42988000-43010200	Weak transcription	Colonic Mucosa	Colon
22	chr15:42988200-43010200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr15:42988400-43008200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr15:42988400-43008600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr15:42988400-43009600	Weak transcription	Fetal Intestine Small	intestine
26	chr15:42988400-43010600	Weak transcription	NHLF	lung
27	chr15:42988600-43008400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr15:42989000-43008800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr15:42989000-43009000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr15:42989000-43010000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr15:42989000-43010400	Weak transcription	Placenta	Placenta
32	chr15:42989000-43011800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr15:42989200-43009600	Weak transcription	Left Ventricle	heart
34	chr15:42989200-43010200	Weak transcription	Brain Angular Gyrus	brain
35	chr15:42989200-43010200	Weak transcription	Ovary	ovary
36	chr15:42989800-43009000	Weak transcription	Right Ventricle	heart
37	chr15:42990000-43009000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr15:42991000-43008600	Weak transcription	NHDF-Ad	bronchial
39	chr15:42992400-43008600	Weak transcription	Fetal Brain Female	brain
40	chr15:42993400-43008400	Weak transcription	Brain Substantia Nigra	brain
41	chr15:42993400-43008800	Weak transcription	Primary B cells from cord blood	blood
42	chr15:42993400-43008800	Weak transcription	Brain Germinal Matrix	brain
43	chr15:42993400-43009000	Weak transcription	Brain Hippocampus Middle	brain
44	chr15:42993400-43010200	Weak transcription	Primary T cells from cord blood	blood
45	chr15:42993400-43010800	Weak transcription	Fetal Lung	lung
46	chr15:42993400-43015400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr15:42993600-43008800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr15:42994200-43010000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr15:42994400-43009200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr15:42995400-43009000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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