Variant report

Variant	rs7815279
Chromosome Location	chr8:91094086-91094087
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr8:91093947-91094129	H1-hESC	embryonic stem cell:	n/a	n/a
2	EGR1	chr8:91093879-91094231	H1-hESC	embryonic stem cell:	n/a	n/a
3	GTF2F1	chr8:91094055-91094409	H1-hESC	embryonic stem cell:	n/a	n/a
4	GATA2	chr8:91094007-91095388	SH-SY5Y	brain:	n/a	n/a
5	REST	chr8:91093999-91094581	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZNF143	chr8:91093736-91094241	H1-hESC	embryonic stem cell:	n/a	n/a
7	REST	chr8:91094027-91095672	HL-60	blood:	n/a	n/a
8	SIN3A	chr8:91093757-91095331	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr8:91093606-91094492	H1-hESC	embryonic stem cell:	n/a	chr8:91093750-91093769

Variant related genes	Relation type
CALB1	TF binding region

Extended variants
information (count: 112 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10088826	0.85[CEU][hapmap]
rs10092098	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10104321	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1011682	0.81[CEU][hapmap]
rs1011683	0.83[MEX][hapmap]
rs10216992	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1061302	0.81[CEU][hapmap];0.91[MEX][hapmap]
rs1063045	0.81[CEU][hapmap];0.87[MEX][hapmap]
rs1063054	0.81[JPT][hapmap]
rs10755930	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10956375	0.81[CEU][hapmap]
rs10956431	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11778638	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11782032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12171665	0.85[CEU][hapmap];0.84[TSI][hapmap];0.88[EUR][1000 genomes]
rs12547667	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12549107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12679577	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13264478	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13265193	0.90[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13275276	0.81[CEU][hapmap]
rs13277204	0.82[EUR][1000 genomes]
rs13278453	0.81[CEU][hapmap]
rs13312935	0.81[CEU][hapmap]
rs1800645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805790	0.81[CEU][hapmap]
rs1805794	0.81[CEU][hapmap];0.91[MEX][hapmap]
rs1805795	0.81[CEU][hapmap]
rs1805797	0.81[CEU][hapmap];0.87[MEX][hapmap]
rs1805799	0.81[CEU][hapmap];0.91[MEX][hapmap]
rs1805800	0.81[CEU][hapmap]
rs1805818	0.81[CEU][hapmap];0.87[MEX][hapmap]
rs1805844	0.81[CEU][hapmap]
rs1805865	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1805870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1805874	0.81[LWK][hapmap]
rs1805876	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1805877	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1881467	0.81[JPT][hapmap]
rs1881468	0.81[JPT][hapmap]
rs2021881	0.81[JPT][hapmap]
rs2021882	0.81[JPT][hapmap]
rs2073635	0.81[CEU][hapmap];0.87[MEX][hapmap]
rs2074596	0.90[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2091887	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2091888	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2091900	0.82[EUR][1000 genomes]
rs2107465	0.90[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2142093	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs2142094	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs2142097	0.81[JPT][hapmap]
rs2234744	0.81[CEU][hapmap];0.91[MEX][hapmap]
rs2246022	0.81[JPT][hapmap]
rs2267543	0.90[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2280780	0.81[CEU][hapmap]
rs2308962	0.81[CEU][hapmap];0.87[MEX][hapmap]
rs2339025	0.81[CEU][hapmap]
rs2697676	0.81[JPT][hapmap]
rs2735383	0.81[JPT][hapmap]
rs2735384	0.86[JPT][hapmap]
rs2735385	0.81[JPT][hapmap]
rs2735386	0.81[JPT][hapmap]
rs28380191	0.83[EUR][1000 genomes]
rs3736639	0.81[CEU][hapmap]
rs4960982	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4961166	0.85[CEU][hapmap];0.91[MEX][hapmap]
rs6470523	0.81[CEU][hapmap]
rs6470524	0.81[CEU][hapmap]
rs6470668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6470671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6470708	0.82[EUR][1000 genomes]
rs6470709	0.82[EUR][1000 genomes]
rs6470713	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6985793	0.82[MEX][hapmap]
rs6987873	0.81[CEU][hapmap]
rs6988013	0.95[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6990969	0.81[CEU][hapmap]
rs6991811	0.81[CEU][hapmap]
rs6993054	0.81[CEU][hapmap]
rs6994202	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999227	0.86[CHB][hapmap];0.85[JPT][hapmap];0.95[MEX][hapmap]
rs7006322	0.81[CEU][hapmap]
rs7011299	0.81[CEU][hapmap]
rs7012846	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7018118	0.81[CEU][hapmap]
rs71528739	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72671845	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs741777	0.81[CEU][hapmap]
rs741778	0.90[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs7459441	0.82[EUR][1000 genomes]
rs7459577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7459845	0.84[EUR][1000 genomes]
rs7459846	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs7460025	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7461859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7463278	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7463923	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7465539	0.82[EUR][1000 genomes]
rs7816839	0.90[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7821408	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7829246	0.81[CEU][hapmap]
rs926092	0.81[CEU][hapmap];0.91[MEX][hapmap]
rs9297784	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9649958	0.90[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs9774207	0.86[EUR][1000 genomes]
rs9792335	0.81[CEU][hapmap]
rs988934	0.81[EUR][1000 genomes]
rs9995	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
2	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2757281	chr8:91090821-91235335	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7815279	NBN	Cis_1M	lymphoblastoid	RTeQTL
rs7815279	DECR1	cis	cerebellum	SCAN
rs7815279	CALB1	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91091200-91095400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:91091400-91094800	Active TSS	Brain Anterior Caudate	brain
3	chr8:91093200-91094800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr8:91093200-91095400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:91093400-91095000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr8:91093600-91094400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:91093600-91094800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr8:91093600-91095000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr8:91093600-91095200	Active TSS	H1 Cell Line	embryonic stem cell
10	chr8:91093600-91095200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:91093600-91095400	Active TSS	H9 Cell Line	embryonic stem cell
12	chr8:91093800-91094200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:91093800-91094600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr8:91093800-91094600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr8:91094000-91094200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
16	chr8:91094000-91094200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:91094000-91094200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
18	chr8:91094000-91094200	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:91094000-91094200	Enhancers	Brain Hippocampus Middle	brain
20	chr8:91094000-91094200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr8:91094000-91094600	Bivalent Enhancer	Fetal Heart	heart
22	chr8:91094000-91094800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:91094000-91094800	Bivalent Enhancer	Brain Angular Gyrus	brain
24	chr8:91094000-91095000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr8:91094000-91095200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:91094000-91095200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:91094000-91095400	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr8:91094000-91095400	Active TSS	Pancreatic Islets	Pancreatic Islet

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