Variant report

Variant	rs12441351
Chromosome Location	chr15:50155937-50155938
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	chr15:50155057..50157653-chr15:50158605..50160734,2	K562	blood:
2	chr15:50152463..50154135-chr15:50155726..50157493,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11634538	1.00[ASW][hapmap];0.96[CEU][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap]
rs11635995	0.80[AMR][1000 genomes]
rs11855340	0.84[AMR][1000 genomes]
rs12440711	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12442880	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1395882	0.96[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs17487348	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2413968	1.00[ASW][hapmap];0.96[CEU][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap]
rs2413969	1.00[ASW][hapmap];0.96[CEU][hapmap];0.87[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.81[AMR][1000 genomes]
rs2413970	0.83[AMR][1000 genomes]
rs4404008	0.85[AMR][1000 genomes]
rs4526969	0.83[AMR][1000 genomes]
rs4551980	0.93[JPT][hapmap]
rs4774546	0.81[AMR][1000 genomes]
rs62020397	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7182178	0.80[CHD][hapmap];0.93[JPT][hapmap]
rs7342629	0.92[CEU][hapmap];0.89[CHB][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8039234	0.83[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12441351	SPG11	cis	parietal	SCAN
rs12441351	EID1	cis	parietal	SCAN

Chromatin state (count:35 , 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	chr15:50144400-50159800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr15:50145600-50200400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:50146400-50160000	Strong transcription	Primary hematopoietic stem cells	blood
7	chr15:50147200-50158400	Enhancers	NHDF-Ad	bronchial
8	chr15:50149400-50198000	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr15:50149600-50160600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:50149600-50160800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr15:50151600-50156600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr15:50152000-50157400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr15:50152800-50157800	Weak transcription	Fetal Muscle Leg	muscle
14	chr15:50154800-50156000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:50155000-50156600	Enhancers	HMEC	breast
16	chr15:50155000-50156800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr15:50155000-50157400	Enhancers	Osteobl	bone
18	chr15:50155000-50158600	Enhancers	Hela-S3	cervix
19	chr15:50155200-50156800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr15:50155400-50156000	Enhancers	Aorta	Aorta
21	chr15:50155400-50156000	Enhancers	Placenta	Placenta
22	chr15:50155400-50156000	Enhancers	Right Atrium	heart
23	chr15:50155400-50156400	Enhancers	HSMMtube	muscle
24	chr15:50155400-50156800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr15:50155400-50157000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr15:50155400-50157400	Enhancers	NHLF	lung
27	chr15:50155600-50156000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr15:50155600-50156000	Enhancers	Ovary	ovary
29	chr15:50155600-50156200	Enhancers	Adipose Nuclei	Adipose
30	chr15:50155600-50156200	Enhancers	HSMM	muscle
31	chr15:50155600-50156400	Enhancers	A549	lung
32	chr15:50155800-50156000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr15:50155800-50156000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr15:50155800-50156200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr15:50155800-50157200	Weak transcription	Primary monocytes fromperipheralblood	blood

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