Variant report

Variant	rs7174985
Chromosome Location	chr15:74274948-74274949
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:74272863..74275185-chr15:74282100..74283789,2	K562	blood:
2	chr15:74269606..74273109-chr15:74273492..74276918,5	K562	blood:
3	chr15:74270540..74273109-chr15:74273687..74276918,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10851869	0.94[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11072460	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11636934	0.99[ASN][1000 genomes]
rs12101466	0.89[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs12102015	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs12904518	0.85[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap]
rs12909197	0.93[ASN][1000 genomes]
rs1550435	0.94[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2415188	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2507	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3816197	1.00[CEU][hapmap];0.90[MEX][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs3816198	0.83[EUR][1000 genomes]
rs4886820	0.84[AFR][1000 genomes]
rs4993000	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7171694	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs8039184	0.98[ASN][1000 genomes]
rs9630436	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758387	chr15:74215114-74464916	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv2760040	chr15:74215114-74464916	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv428308	chr15:74215114-74464916	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv833052	chr15:74250378-74377150	Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7174985	UACA	cis	parietal	SCAN
rs7174985	CYP11A1	cis	cerebellum	SCAN
rs7174985	PML	cis	parietal	SCAN

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74265800-74275800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:74267200-74277000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:74272600-74283800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:74272800-74275600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr15:74272800-74276000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr15:74272800-74281000	Enhancers	Primary hematopoietic stem cells	blood
7	chr15:74273000-74275800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:74273000-74276000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr15:74273200-74275800	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr15:74273200-74280000	Enhancers	Left Ventricle	heart
11	chr15:74273600-74275400	Enhancers	Fetal Thymus	thymus
12	chr15:74273800-74275000	Enhancers	Brain Substantia Nigra	brain
13	chr15:74273800-74275200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr15:74273800-74275400	Enhancers	Fetal Brain Female	brain
15	chr15:74273800-74275400	Enhancers	Thymus	Thymus
16	chr15:74273800-74275800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr15:74273800-74275800	Enhancers	Brain Cingulate Gyrus	brain
18	chr15:74273800-74275800	Enhancers	Fetal Muscle Trunk	muscle
19	chr15:74273800-74275800	Enhancers	Placenta	Placenta
20	chr15:74273800-74275800	Enhancers	Spleen	Spleen
21	chr15:74273800-74276000	Enhancers	Primary T cells fromperipheralblood	blood
22	chr15:74273800-74276000	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr15:74273800-74276000	Enhancers	Lung	lung
24	chr15:74273800-74276000	Enhancers	NHLF	lung
25	chr15:74273800-74276400	Enhancers	HUVEC	blood vessel
26	chr15:74273800-74276600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr15:74273800-74278000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr15:74273800-74278600	Enhancers	Primary B cells from peripheral blood	blood
29	chr15:74273800-74278600	Enhancers	NH-A	brain
30	chr15:74273800-74279600	Enhancers	Right Atrium	heart
31	chr15:74273800-74280200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr15:74273800-74283600	Enhancers	HMEC	breast
33	chr15:74273800-74283600	Enhancers	NHDF-Ad	bronchial
34	chr15:74273800-74283800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr15:74274000-74275000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr15:74274000-74275000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr15:74274000-74275000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr15:74274000-74275000	Enhancers	Aorta	Aorta
39	chr15:74274000-74275000	Enhancers	Fetal Kidney	kidney
40	chr15:74274000-74275000	Enhancers	Pancreas	Pancrea
41	chr15:74274000-74275000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr15:74274000-74275000	Flanking Active TSS	GM12878-XiMat	blood
43	chr15:74274000-74275000	Flanking Active TSS	Osteobl	bone
44	chr15:74274000-74275200	Enhancers	Liver	Liver
45	chr15:74274000-74275200	Enhancers	Psoas Muscle	Psoas
46	chr15:74274000-74275800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr15:74274000-74275800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr15:74274000-74275800	Enhancers	Brain Anterior Caudate	brain
49	chr15:74274000-74275800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr15:74274000-74275800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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