Variant report

Variant	rs35206230
Chromosome Location	chr15:75097780-75097781
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	chr15:75090844..75093273-chr15:75095406..75098069,2	K562	blood:
2	chr15:75096057..75099661-chr15:75118891..75121480,3	K562	blood:

Variant related genes	Relation type
ENSG00000103653	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11072507	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11072508	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11630478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11632414	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11635664	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12591513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12898997	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12903541	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12903896	0.82[AMR][1000 genomes]
rs12905199	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12909307	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12917376	0.98[ASN][1000 genomes]
rs1378940	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1378941	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1378942	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2168518	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2470890	0.84[AMR][1000 genomes]
rs2472304	0.84[AMR][1000 genomes]
rs2960192	0.84[AMR][1000 genomes]
rs34862454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784789	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4886410	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62006567	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904380	chr15:74869438-75142761	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv833055	chr15:74988344-75166288	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs35206230	SCAMP5	cis	lung	GTEx
rs35206230	COX5A	Cis_1M	lymphoblastoid	RTeQTL
rs35206230	SCAMP5	cis	Artery Tibial	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75082400-75098400	Weak transcription	Fetal Kidney	kidney
2	chr15:75086000-75107400	Weak transcription	Fetal Brain Male	brain
3	chr15:75086200-75098000	Strong transcription	Fetal Stomach	stomach
4	chr15:75087200-75100200	Weak transcription	Right Atrium	heart
5	chr15:75090000-75097800	Strong transcription	Brain Germinal Matrix	brain
6	chr15:75091400-75097800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr15:75091800-75097800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr15:75092400-75097800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr15:75092800-75099000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr15:75093000-75100400	Weak transcription	Stomach Mucosa	stomach
11	chr15:75093000-75100600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr15:75093200-75098000	Strong transcription	Fetal Intestine Small	intestine
13	chr15:75093400-75097800	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr15:75093400-75097800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr15:75093400-75097800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:75093600-75097800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr15:75094000-75098000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:75094400-75099200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr15:75094600-75098800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr15:75094600-75099400	Weak transcription	Small Intestine	intestine
21	chr15:75094600-75100400	Weak transcription	HepG2	liver
22	chr15:75094600-75101200	Weak transcription	Colon Smooth Muscle	Colon
23	chr15:75094800-75099400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr15:75094800-75099400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr15:75094800-75099600	Weak transcription	Hela-S3	cervix
26	chr15:75095800-75101400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr15:75095800-75101600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr15:75096000-75109000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr15:75096200-75100400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr15:75096200-75105200	Weak transcription	Fetal Lung	lung
31	chr15:75096200-75109600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr15:75096400-75099200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr15:75096400-75104800	Weak transcription	Right Ventricle	heart
34	chr15:75096600-75098200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr15:75096600-75098400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr15:75096600-75098600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr15:75096600-75099000	Weak transcription	Aorta	Aorta
38	chr15:75096600-75099200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr15:75096600-75099400	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr15:75096600-75099400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr15:75096600-75100200	Weak transcription	Placenta	Placenta
42	chr15:75096600-75102400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr15:75096600-75107200	Weak transcription	Gastric	stomach
44	chr15:75096600-75107400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr15:75096800-75098600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr15:75096800-75098600	Weak transcription	Brain Hippocampus Middle	brain
47	chr15:75096800-75098600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr15:75096800-75098600	Weak transcription	Brain Substantia Nigra	brain
49	chr15:75096800-75098800	Weak transcription	Adipose Nuclei	Adipose
50	chr15:75096800-75098800	Weak transcription	Brain Angular Gyrus	brain

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