Variant report

Variant	rs4775086
Chromosome Location	chr15:58969292-58969293
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:58957306..58961861-chr15:58967060..58970416,4	K562	blood:
2	chr15:58960075..58965033-chr15:58965459..58970416,5	K562	blood:
3	chr15:58967419..58970451-chr15:59040340..59042776,3	K562	blood:

Variant related genes	Relation type
ENSG00000270986	Chromatin interaction
ENSG00000137845	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11854073	0.85[ASW][hapmap];0.83[GIH][hapmap];0.82[MKK][hapmap]
rs12911961	0.85[AFR][1000 genomes]
rs1427281	0.83[GIH][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1427282	0.82[MKK][hapmap]
rs1469343	0.95[YRI][hapmap]
rs1834747	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28864995	0.85[ASW][hapmap];0.83[GIH][hapmap];0.80[MKK][hapmap]
rs347117	0.83[GIH][hapmap];0.82[MKK][hapmap]
rs383902	0.83[GIH][hapmap]
rs4775087	0.83[GIH][hapmap];0.82[MKK][hapmap]
rs605928	0.83[ASW][hapmap];0.87[LWK][hapmap];0.98[MKK][hapmap];0.95[YRI][hapmap]
rs6494029	0.82[MKK][hapmap]
rs6494035	0.83[AFR][1000 genomes]
rs6494036	0.81[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs653765	0.85[ASW][hapmap];0.83[GIH][hapmap];0.87[LWK][hapmap];0.97[MKK][hapmap];0.95[YRI][hapmap]
rs714696	0.80[AMR][1000 genomes]
rs7161889	0.83[GIH][hapmap];0.82[MKK][hapmap]
rs7166356	0.95[YRI][hapmap]
rs7177678	0.85[ASW][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7183336	0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8032140	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8043406	0.87[LWK][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap]
rs972801	0.85[ASW][hapmap];0.81[GIH][hapmap];0.82[MKK][hapmap]

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	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv904269	chr15:58906145-58992591	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic 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	87 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4775086	ADAM10,HSP90AB4P	cis	intralobular white matter	BrainEAC

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58905000-58983200	Weak transcription	Esophagus	oesophagus
2	chr15:58905400-58971800	Weak transcription	Spleen	Spleen
3	chr15:58905600-58976400	Weak transcription	Gastric	stomach
4	chr15:58906400-58976400	Weak transcription	Small Intestine	intestine
5	chr15:58921600-58976600	Weak transcription	Right Ventricle	heart
6	chr15:58921800-58970400	Weak transcription	Stomach Mucosa	stomach
7	chr15:58923400-58971800	Weak transcription	Pancreas	Pancrea
8	chr15:58923400-58982800	Weak transcription	Lung	lung
9	chr15:58933000-58987000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr15:58934200-58976400	Weak transcription	Psoas Muscle	Psoas
11	chr15:58936000-58977000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr15:58936200-58991400	Weak transcription	HMEC	breast
13	chr15:58947800-58971800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr15:58947800-58976400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr15:58949400-58976400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr15:58951200-58987000	Weak transcription	NHEK	skin
17	chr15:58951600-58976400	Weak transcription	GM12878-XiMat	blood
18	chr15:58951600-58981800	Weak transcription	Fetal Brain Male	brain
19	chr15:58955000-58971800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:58955200-58971800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr15:58955200-58971800	Weak transcription	Fetal Muscle Leg	muscle
22	chr15:58955200-58971800	Weak transcription	Fetal Stomach	stomach
23	chr15:58955200-58971800	Weak transcription	Left Ventricle	heart
24	chr15:58955200-58976400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr15:58955200-58988400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr15:58955400-58971200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr15:58955400-58976200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr15:58955800-58970800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr15:58955800-58972000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr15:58956600-58974800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr15:58956600-58974800	Weak transcription	Adipose Nuclei	Adipose
32	chr15:58956600-58984400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr15:58956600-58984600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr15:58956600-58987400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr15:58956800-58974200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr15:58956800-58980000	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr15:58956800-58982000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr15:58957000-58972400	Weak transcription	Placenta	Placenta
39	chr15:58957000-58976600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr15:58957400-58984400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr15:58957600-58989200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr15:58958800-58989000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr15:58959600-58976400	Weak transcription	NH-A	brain
44	chr15:58959800-58970200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr15:58959800-58973800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr15:58960200-58970800	Weak transcription	HUVEC	blood vessel
47	chr15:58960200-58971800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr15:58960200-58976400	Weak transcription	HSMMtube	muscle
49	chr15:58960400-58971800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr15:58960400-58972200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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