Variant report

Variant	rs8043020
Chromosome Location	chr15:83663005-83663006
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:83519425..83521228-chr15:83661730..83663571,2	K562	blood:
2	chr15:83661503..83663041-chr15:83669918..83672402,2	MCF-7	breast:
3	chr15:83656238..83660142-chr15:83661647..83663488,3	K562	blood:
4	chr15:83653421..83657652-chr15:83658187..83664048,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000103942	Chromatin interaction
ENSG00000169612	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1037403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11259960	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs11259963	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12050725	0.94[JPT][hapmap]
rs12148275	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs12441675	0.94[JPT][hapmap]
rs1568657	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs2046070	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2061947	0.94[JPT][hapmap];0.90[MEX][hapmap];0.82[MKK][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes]
rs2123157	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2123158	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2167602	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2381028	0.96[ASN][1000 genomes]
rs28451607	0.94[ASN][1000 genomes]
rs28510273	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4842859	0.91[ASN][1000 genomes]
rs4842928	0.90[ASN][1000 genomes]
rs4842935	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4843141	0.94[JPT][hapmap]
rs4843144	0.85[JPT][hapmap]
rs4843146	0.86[JPT][hapmap]
rs59108707	0.87[ASN][1000 genomes]
rs6603038	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6603041	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8025253	0.95[ASN][1000 genomes]
rs8034220	0.82[ASN][1000 genomes]
rs872598	0.89[JPT][hapmap]
rs872599	0.81[CHB][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]

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	nsv1040336	chr15:83578947-83768335	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv482308	chr15:83584918-83747362	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8043020	ZNF592	cis	cerebellum	SCAN
rs8043020	BTBD1	cis	parietal	SCAN

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83655400-83675400	Weak transcription	Spleen	Spleen
2	chr15:83655800-83668200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr15:83655800-83668200	Weak transcription	Brain Angular Gyrus	brain
4	chr15:83655800-83673600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr15:83655800-83675600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr15:83655800-83679200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr15:83656000-83668600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr15:83656000-83669000	Weak transcription	Left Ventricle	heart
9	chr15:83656000-83669000	Weak transcription	Right Atrium	heart
10	chr15:83656000-83675200	Weak transcription	Esophagus	oesophagus
11	chr15:83656200-83664000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr15:83656200-83668600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:83656200-83668600	Weak transcription	Brain Hippocampus Middle	brain
14	chr15:83656200-83668600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr15:83656200-83668800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr15:83656200-83669000	Weak transcription	Colonic Mucosa	Colon
17	chr15:83656200-83669000	Weak transcription	HMEC	breast
18	chr15:83656200-83669000	Weak transcription	HSMMtube	muscle
19	chr15:83656200-83669000	Weak transcription	NHLF	lung
20	chr15:83656200-83673400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr15:83656200-83677800	Weak transcription	Fetal Brain Male	brain
22	chr15:83656200-83679000	Weak transcription	Right Ventricle	heart
23	chr15:83656400-83668200	Weak transcription	Colon Smooth Muscle	Colon
24	chr15:83656400-83668600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr15:83656400-83668600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr15:83656400-83668600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr15:83656400-83668800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr15:83656400-83669000	Weak transcription	Fetal Kidney	kidney
29	chr15:83656400-83679200	Weak transcription	Fetal Heart	heart
30	chr15:83656600-83668400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr15:83656600-83668600	Weak transcription	Brain Substantia Nigra	brain
32	chr15:83656600-83668800	Weak transcription	GM12878-XiMat	blood
33	chr15:83656600-83669000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr15:83656600-83669000	Weak transcription	Thymus	Thymus
35	chr15:83656600-83674400	Weak transcription	HepG2	liver
36	chr15:83656800-83668800	Weak transcription	Small Intestine	intestine
37	chr15:83657600-83664400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr15:83657600-83668200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr15:83657600-83669000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr15:83657600-83669000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr15:83657600-83673800	Weak transcription	Fetal Intestine Small	intestine
42	chr15:83657800-83673800	Weak transcription	Brain Germinal Matrix	brain
43	chr15:83658000-83669000	Weak transcription	NHEK	skin
44	chr15:83658000-83673600	Weak transcription	Fetal Brain Female	brain
45	chr15:83658000-83675000	Weak transcription	Lung	lung
46	chr15:83658000-83675200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr15:83658000-83679000	Weak transcription	Gastric	stomach
48	chr15:83658200-83668000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr15:83658200-83668200	Weak transcription	K562	blood
50	chr15:83658200-83668600	Weak transcription	Primary T cells from cord blood	blood

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