Variant report

Variant	rs4482220
Chromosome Location	chr15:49101831-49101832
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:49039044..49041114-chr15:49100426..49102723,2	K562	blood:
2	chr15:49047786..49050157-chr15:49100805..49102732,2	K562	blood:
3	chr15:49101522..49103022-chr17:41381796..41383746,2	K562	blood:
4	chr15:49101522..49104522-chr17:41464836..41468062,3	K562	blood:
5	chr15:49100652..49102647-chr15:49106614..49108971,2	K562	blood:
6	chr15:49101173..49102721-chr15:49142074..49143991,2	K562	blood:
7	chr15:49038876..49041114-chr15:49099874..49102723,2	K562	blood:

Variant related genes	Relation type
ENSG00000236383	Chromatin interaction
ENSG00000188825	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12899937	0.98[ASN][1000 genomes]
rs12902606	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12906456	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[ASN][1000 genomes]
rs12909029	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1426199	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[ASN][1000 genomes]
rs17382306	0.81[CEU][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17382534	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[ASN][1000 genomes]
rs17383295	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs17383671	1.00[JPT][hapmap]
rs17466389	0.82[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2899424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34026160	0.98[ASN][1000 genomes]
rs34780506	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs35744700	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62009451	0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833001	chr15:49043643-49204765	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4482220	TMEM62	cis	parietal	SCAN
rs4482220	FBN1	cis	parietal	SCAN
rs4482220	DUOX2	cis	cerebellum	SCAN
rs4482220	COPS2	cis	parietal	SCAN

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49059800-49102200	Weak transcription	Spleen	Spleen
2	chr15:49074200-49102600	Weak transcription	Lung	lung
3	chr15:49074600-49102200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:49074600-49102400	Weak transcription	Esophagus	oesophagus
5	chr15:49074600-49102600	Weak transcription	Gastric	stomach
6	chr15:49074800-49102200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr15:49075400-49102200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr15:49081600-49102400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr15:49082200-49102200	Weak transcription	Placenta	Placenta
10	chr15:49085400-49102200	Weak transcription	Fetal Stomach	stomach
11	chr15:49085600-49102000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr15:49085600-49102000	Weak transcription	Fetal Lung	lung
13	chr15:49086800-49102600	Weak transcription	Right Ventricle	heart
14	chr15:49087200-49102000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr15:49087200-49102200	Weak transcription	Brain Anterior Caudate	brain
16	chr15:49087200-49102200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr15:49087400-49102000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr15:49087600-49102200	Weak transcription	Primary B cells from cord blood	blood
19	chr15:49088600-49102200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr15:49089800-49102000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr15:49089800-49102000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr15:49089800-49102200	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr15:49090000-49102000	Weak transcription	NHEK	skin
24	chr15:49090400-49102600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr15:49092200-49102000	Weak transcription	Brain Substantia Nigra	brain
26	chr15:49093400-49102000	Weak transcription	Fetal Intestine Small	intestine
27	chr15:49093400-49102200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr15:49093400-49102200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr15:49093800-49102000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr15:49093800-49102200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr15:49095600-49102000	Weak transcription	HSMM	muscle
32	chr15:49095600-49102200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr15:49095600-49102400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr15:49096400-49102000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr15:49096400-49102000	Weak transcription	HMEC	breast
36	chr15:49096400-49102400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr15:49096600-49102000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr15:49096600-49102200	Weak transcription	Ovary	ovary
39	chr15:49096800-49102000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr15:49096800-49102000	Weak transcription	Fetal Thymus	thymus
41	chr15:49097400-49102000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr15:49097400-49102200	Weak transcription	Fetal Intestine Large	intestine
43	chr15:49097400-49102200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr15:49097800-49102000	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr15:49098800-49102000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr15:49098800-49102000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr15:49098800-49102200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr15:49098800-49102200	Weak transcription	Adipose Nuclei	Adipose
49	chr15:49098800-49102200	Weak transcription	Fetal Muscle Leg	muscle
50	chr15:49098800-49102400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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