Variant report

Variant	rs1063053
Chromosome Location	chr8:90947537-90947538
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90947133..90948795-chr8:90952209..90955179,2	K562	blood:
2	chr8:90912518..90915342-chr8:90946692..90950309,3	MCF-7	breast:
3	chr8:90912620..90916170-chr8:90944488..90948488,4	MCF-7	breast:
4	chr8:90918054..90920317-chr8:90945191..90947946,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164823	Chromatin interaction
ENSG00000207359	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1063054	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784904	0.82[ASN][1000 genomes]
rs12680687	0.91[CHB][hapmap]
rs13265193	0.85[JPT][hapmap]
rs1805870	0.85[JPT][hapmap]
rs1805877	0.80[JPT][hapmap]
rs1881467	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1881468	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2021881	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2021882	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2074596	0.80[JPT][hapmap]
rs2091887	0.80[JPT][hapmap]
rs2107465	0.85[JPT][hapmap]
rs2142097	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2246022	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2267543	0.80[JPT][hapmap]
rs2697676	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2697679	0.87[CEU][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs2735380	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2735383	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2735384	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.85[LWK][hapmap];0.87[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2735385	0.83[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2735386	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2735387	0.90[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2735388	0.90[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2735889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35112024	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35696408	0.94[ASN][1000 genomes]
rs6470668	0.80[JPT][hapmap]
rs67277238	0.94[ASN][1000 genomes]
rs6999227	0.86[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs741778	0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs7816839	0.80[JPT][hapmap]
rs9649958	0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs9650096	0.82[ASN][1000 genomes]
rs9995	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1063053	DECR1	cis	cerebellum	SCAN
rs1063053	NBN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90915400-90966800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:90915600-90950800	Weak transcription	Stomach Mucosa	stomach
3	chr8:90915800-90995000	Weak transcription	Fetal Brain Male	brain
4	chr8:90916000-90961400	Weak transcription	Fetal Heart	heart
5	chr8:90916600-90969600	Weak transcription	Brain Substantia Nigra	brain
6	chr8:90917600-90953600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr8:90917600-90975400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr8:90918800-90951800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr8:90924800-90986600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:90925400-90952000	Weak transcription	Fetal Intestine Small	intestine
11	chr8:90925400-90956600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:90925400-90970200	Weak transcription	Pancreas	Pancrea
13	chr8:90925400-90979200	Weak transcription	Gastric	stomach
14	chr8:90925600-90961600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:90925600-90967200	Weak transcription	Colonic Mucosa	Colon
16	chr8:90925600-90975200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:90927000-90978000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr8:90927200-90964200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr8:90927600-90988400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr8:90927800-90951800	Weak transcription	Osteobl	bone
21	chr8:90927800-90963800	Weak transcription	NHEK	skin
22	chr8:90927800-90969800	Weak transcription	Esophagus	oesophagus
23	chr8:90927800-90970200	Weak transcription	Spleen	Spleen
24	chr8:90927800-90970400	Weak transcription	Right Ventricle	heart
25	chr8:90927800-90996000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:90928000-90965200	Weak transcription	Fetal Kidney	kidney
27	chr8:90928000-90970400	Weak transcription	Small Intestine	intestine
28	chr8:90929200-90961400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:90929400-90966000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr8:90929800-90951200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr8:90931600-90965200	Weak transcription	HepG2	liver
32	chr8:90932000-90952400	Weak transcription	NHLF	lung
33	chr8:90934000-90965400	Weak transcription	Fetal Brain Female	brain
34	chr8:90935400-90951400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:90937200-90969800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr8:90937200-90970400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:90937200-90970400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:90937600-90949600	Weak transcription	Left Ventricle	heart
39	chr8:90937600-90952000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:90937600-90952000	Weak transcription	HSMMtube	muscle
41	chr8:90937600-90954600	Weak transcription	Brain Anterior Caudate	brain
42	chr8:90937600-90961200	Weak transcription	Psoas Muscle	Psoas
43	chr8:90937600-90969400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr8:90937600-90970000	Weak transcription	Lung	lung
45	chr8:90937800-90951400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr8:90937800-90952000	Weak transcription	Aorta	Aorta
47	chr8:90937800-90953800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr8:90938200-90974600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr8:90938400-90949000	Weak transcription	Fetal Thymus	thymus
50	chr8:90938400-90970000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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