Variant report

Variant	rs2063284
Chromosome Location	chr8:120847922-120847923
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	chr8:120845033..120846666-chr8:120847301..120849467,2	MCF-7	breast:
2	chr8:120847721..120850147-chr8:120852543..120855750,4	K562	blood:

Variant related genes	Relation type
ENSG00000064313	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10086801	0.84[ASN][1000 genomes]
rs10087974	1.00[CEU][hapmap]
rs10088205	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10088741	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10108101	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10955939	0.84[ASN][1000 genomes]
rs11785572	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985347	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11991780	0.84[ASN][1000 genomes]
rs11996390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11998531	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12156318	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1355174	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.80[YRI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16893214	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893240	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs16893243	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs16893249	0.84[ASN][1000 genomes]
rs16893252	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17818097	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17818440	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17818446	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17818842	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];1.00[ASN][1000 genomes]
rs2063283	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28394804	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28490296	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28551477	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55776270	0.84[ASN][1000 genomes]
rs55889147	0.84[ASN][1000 genomes]
rs56180159	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56281801	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56366115	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58900911	0.84[ASN][1000 genomes]
rs60145621	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60917006	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61438417	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526598	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62526601	0.85[ASN][1000 genomes]
rs62526606	0.85[ASN][1000 genomes]
rs62526620	1.00[ASN][1000 genomes]
rs62526621	0.84[ASN][1000 genomes]
rs62526623	0.84[ASN][1000 genomes]
rs62526624	0.84[ASN][1000 genomes]
rs62526625	0.84[ASN][1000 genomes]
rs62526635	0.84[ASN][1000 genomes]
rs62526636	0.84[ASN][1000 genomes]
rs62526637	0.84[ASN][1000 genomes]
rs62526638	0.84[ASN][1000 genomes]
rs62526639	0.84[ASN][1000 genomes]
rs62526640	0.84[ASN][1000 genomes]
rs62526641	0.84[ASN][1000 genomes]
rs62526642	0.84[ASN][1000 genomes]
rs6469845	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.80[YRI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6469856	1.00[CHB][hapmap]
rs6469858	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6981251	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6982092	0.84[ASN][1000 genomes]
rs6987018	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs6987100	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6987160	0.84[ASN][1000 genomes]
rs6987389	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6988621	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6994085	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.80[YRI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6995594	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999808	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7002440	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7002501	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7003687	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7007123	0.84[ASN][1000 genomes]
rs7007265	0.84[ASN][1000 genomes]
rs7007320	1.00[CHB][hapmap]
rs7007970	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs72690112	1.00[ASN][1000 genomes]
rs72690123	0.84[ASN][1000 genomes]
rs72690128	0.84[ASN][1000 genomes]
rs72690134	0.84[ASN][1000 genomes]
rs72690137	0.84[ASN][1000 genomes]
rs73705442	0.84[ASN][1000 genomes]
rs7813113	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7815122	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7815389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7823836	0.84[ASN][1000 genomes]
rs7823910	0.84[ASN][1000 genomes]
rs7823917	0.84[ASN][1000 genomes]
rs7827811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7828086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7831639	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7831973	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7836830	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7837894	1.00[JPT][hapmap]
rs7838465	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7843080	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7843579	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9297606	0.87[ASW][hapmap];1.00[CEU][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs953614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs953615	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9650078	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2063284	ENPP2	cis	lymphoblastoid	seeQTL
rs2063284	TAF2	cis	cerebellum	SCAN
rs2063284	DSCC1	cis	parietal	SCAN
rs2063284	DSCC1	cis	cerebellum	SCAN

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120845600-120849400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:120845600-120850000	Weak transcription	Stomach Mucosa	stomach
3	chr8:120845600-120852000	Weak transcription	Aorta	Aorta
4	chr8:120845600-120853200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:120845600-120865600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:120845600-120867400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:120845800-120848000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr8:120845800-120849000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:120845800-120849600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:120845800-120855200	Weak transcription	NH-A	brain
11	chr8:120846000-120848600	Weak transcription	Fetal Brain Male	brain
12	chr8:120846000-120848800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr8:120846000-120849800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr8:120846000-120851800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr8:120846000-120855000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:120846000-120867200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:120846200-120848000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:120846200-120848000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr8:120846200-120848000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr8:120846200-120848000	Weak transcription	HMEC	breast
21	chr8:120846200-120848800	Weak transcription	Hela-S3	cervix
22	chr8:120846200-120849000	Weak transcription	Brain Hippocampus Middle	brain
23	chr8:120846200-120849000	Weak transcription	Thymus	Thymus
24	chr8:120846200-120849400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:120846200-120849400	Weak transcription	Brain Germinal Matrix	brain
26	chr8:120846200-120849400	Weak transcription	Fetal Brain Female	brain
27	chr8:120846200-120849400	Weak transcription	Ovary	ovary
28	chr8:120846200-120849600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr8:120846200-120849600	Weak transcription	Placenta	Placenta
30	chr8:120846200-120849600	Weak transcription	Fetal Stomach	stomach
31	chr8:120846200-120849800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr8:120846200-120850000	Weak transcription	Brain Anterior Caudate	brain
33	chr8:120846200-120850800	Weak transcription	Brain Substantia Nigra	brain
34	chr8:120846200-120851600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:120846200-120851800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr8:120846200-120852000	Weak transcription	Small Intestine	intestine
37	chr8:120846200-120852400	Weak transcription	Brain Angular Gyrus	brain
38	chr8:120846200-120852600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:120846200-120854200	Weak transcription	Psoas Muscle	Psoas
40	chr8:120846200-120854600	Weak transcription	Spleen	Spleen
41	chr8:120846200-120855400	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr8:120846200-120856000	Weak transcription	Left Ventricle	heart
43	chr8:120846200-120857000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr8:120846200-120857200	Strong transcription	Fetal Thymus	thymus
45	chr8:120846200-120859400	Weak transcription	Lung	lung
46	chr8:120846200-120865600	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr8:120846200-120865600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr8:120846200-120865800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:120846200-120866000	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr8:120846200-120867000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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