Variant report

Variant	rs7163636
Chromosome Location	chr15:75346760-75346761
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:75346214..75349388-chr15:75495384..75499059,5	K562	blood:
2	chr15:75345292..75348855-chr15:75495155..75497587,4	K562	blood:

Variant related genes	Relation type
ENSG00000167173	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11854975	0.86[EUR][1000 genomes]
rs12101482	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12148488	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.91[LWK][hapmap];0.88[MEX][hapmap];0.85[MKK][hapmap];0.95[TSI][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12593566	0.89[YRI][hapmap]
rs12899062	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12900654	0.89[YRI][hapmap]
rs12904227	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12909515	0.87[AFR][1000 genomes]
rs12917120	0.93[YRI][hapmap]
rs13056	0.92[YRI][hapmap]
rs1867148	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1867149	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1867151	0.82[AFR][1000 genomes]
rs2083730	0.89[LWK][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes]
rs2120019	0.93[YRI][hapmap]
rs2304899	0.92[CHB][hapmap];0.82[CHD][hapmap];0.91[LWK][hapmap];1.00[YRI][hapmap]
rs2304902	0.81[EUR][1000 genomes]
rs2304903	0.83[YRI][hapmap]
rs34582157	0.81[ASN][1000 genomes]
rs35078352	0.84[EUR][1000 genomes]
rs3812944	0.84[CHB][hapmap];0.89[LWK][hapmap];1.00[YRI][hapmap]
rs3812945	0.82[TSI][hapmap]
rs4886417	0.80[EUR][1000 genomes]
rs4886651	0.89[LWK][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes]
rs4886652	0.82[AFR][1000 genomes]
rs4886655	0.85[EUR][1000 genomes]
rs6495141	0.81[AFR][1000 genomes]
rs6495143	0.89[YRI][hapmap];0.80[AFR][1000 genomes]
rs6495144	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6495150	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6495151	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67168917	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7163362	0.82[EUR][1000 genomes]
rs7167261	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7181261	0.82[EUR][1000 genomes]
rs8028632	0.93[YRI][hapmap]
rs8030089	0.93[YRI][hapmap]
rs8039755	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv569993	chr15:75242155-75483752	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv457205	chr15:75336729-75447773	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv569994	chr15:75336729-75447773	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS 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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7163636	SCAMP5	cis	lung	GTEx
rs7163636	SCAMP5	cis	Artery Tibial	GTEx
rs7163636	CYP11A1	cis	cerebellum	SCAN
rs7163636	ULK3	cis	multi-tissue	Pritchard
rs7163636	ULK3	cis	parietal	SCAN

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75328800-75350400	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr15:75329200-75350400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:75329400-75346800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr15:75336000-75350400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:75337200-75353600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:75339600-75351800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr15:75340000-75350400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr15:75340000-75350600	Weak transcription	NH-A	brain
9	chr15:75340000-75350600	Weak transcription	Osteobl	bone
10	chr15:75340000-75353400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr15:75340000-75353400	Weak transcription	NHDF-Ad	bronchial
12	chr15:75340000-75360600	Weak transcription	Gastric	stomach
13	chr15:75340200-75350200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr15:75340200-75350400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr15:75340200-75350600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr15:75340200-75351800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr15:75340200-75353000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr15:75340200-75353600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr15:75340200-75359400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr15:75340400-75350200	Weak transcription	HMEC	breast
21	chr15:75340400-75353800	Weak transcription	Liver	Liver
22	chr15:75340800-75357600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr15:75341000-75356400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr15:75341200-75357800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr15:75341600-75350800	Weak transcription	A549	lung
26	chr15:75342000-75350200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr15:75342000-75350400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr15:75342000-75350800	Weak transcription	Dnd41	blood
29	chr15:75342000-75357200	Weak transcription	Small Intestine	intestine
30	chr15:75342200-75350400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr15:75342200-75350400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr15:75342200-75350400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr15:75342200-75357600	Weak transcription	Aorta	Aorta
34	chr15:75342400-75347000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr15:75342400-75350200	Weak transcription	NHEK	skin
36	chr15:75342400-75357400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr15:75342600-75348000	Weak transcription	GM12878-XiMat	blood
38	chr15:75342600-75353200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr15:75342600-75357000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr15:75342600-75357600	Weak transcription	Hela-S3	cervix
41	chr15:75342600-75364800	Weak transcription	Primary T cells from cord blood	blood
42	chr15:75342800-75350400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr15:75342800-75350800	Weak transcription	Esophagus	oesophagus
44	chr15:75342800-75357400	Weak transcription	Thymus	Thymus
45	chr15:75342800-75361600	Weak transcription	Brain Hippocampus Middle	brain
46	chr15:75343000-75351000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr15:75343000-75354000	Weak transcription	Brain Angular Gyrus	brain
48	chr15:75343000-75354600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr15:75343200-75357400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr15:75343800-75346800	Weak transcription	Primary monocytes fromperipheralblood	blood

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