Variant report

Variant	rs7017719
Chromosome Location	chr8:87333968-87333969
allele	A/G
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	CEBPB	chr8:87333559-87334316	Hela-S3	cervix:	n/a	chr8:87333707-87333720

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:87329069..87335338-chr8:87352769..87359177,10	MCF-7	breast:

Variant related genes	Relation type
SLC7A13	TF binding region
ENSG00000254231	Chromatin interaction
ENSG00000123124	Chromatin interaction

Extended variants
information (count: 136 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs10088739	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10089781	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10093238	0.85[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap]
rs10093379	0.82[EUR][1000 genomes]
rs10095129	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];0.82[YRI][hapmap];0.81[EUR][1000 genomes]
rs10095498	0.82[JPT][hapmap]
rs10095537	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10096168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10096443	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap]
rs10097450	0.82[JPT][hapmap]
rs10103691	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10107072	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10956800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956802	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10956803	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10956853	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1142528	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs11775728	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.83[ASN][1000 genomes]
rs11781016	0.83[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap]
rs11782512	0.83[EUR][1000 genomes]
rs11787036	0.83[ASN][1000 genomes]
rs11787318	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11997234	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12543856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12543887	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12544731	0.96[CEU][hapmap];0.85[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12546802	0.82[JPT][hapmap]
rs12550142	0.82[JPT][hapmap]
rs12679811	0.82[JPT][hapmap]
rs13042	0.82[JPT][hapmap]
rs13249753	0.82[JPT][hapmap]
rs13251647	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs13267782	0.82[JPT][hapmap]
rs13269259	0.82[JPT][hapmap]
rs13281414	0.82[JPT][hapmap]
rs17608598	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17608967	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs17681618	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2953517	0.82[JPT][hapmap]
rs2976201	0.82[JPT][hapmap]
rs34895735	0.89[EUR][1000 genomes]
rs3883910	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4285463	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4484676	0.86[JPT][hapmap]
rs4490816	0.81[JPT][hapmap]
rs4567013	0.82[YRI][hapmap]
rs4581032	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4587306	0.83[CHD][hapmap];0.82[JPT][hapmap]
rs4961187	0.99[ASN][1000 genomes]
rs4961188	0.82[JPT][hapmap]
rs4961190	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4961193	0.80[CHD][hapmap];0.82[JPT][hapmap]
rs4961194	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap]
rs4961195	0.81[JPT][hapmap]
rs4961196	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs5024450	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5025329	0.86[JPT][hapmap];0.82[YRI][hapmap]
rs55727343	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55807259	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56039487	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56096624	0.80[ASN][1000 genomes]
rs56102132	0.84[EUR][1000 genomes]
rs56122638	0.84[ASN][1000 genomes]
rs56268675	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56395805	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57326273	0.88[EUR][1000 genomes]
rs57644875	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62509414	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62509419	0.87[ASN][1000 genomes]
rs62509421	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62510798	0.84[EUR][1000 genomes]
rs6415565	0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs6471273	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[ASN][1000 genomes]
rs6471279	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471280	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6471281	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471296	0.83[CHD][hapmap];0.82[JPT][hapmap]
rs6471309	0.83[CHD][hapmap];0.82[JPT][hapmap]
rs6471345	0.82[EUR][1000 genomes]
rs6471352	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6471354	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs6471360	0.82[JPT][hapmap]
rs6983925	0.81[JPT][hapmap]
rs6988601	0.81[EUR][1000 genomes]
rs6994005	1.00[CEU][hapmap];0.84[JPT][hapmap]
rs6996052	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];0.82[YRI][hapmap];0.88[EUR][1000 genomes]
rs6999654	0.85[JPT][hapmap]
rs7003059	0.85[CHD][hapmap];0.82[JPT][hapmap]
rs7006017	0.85[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap]
rs7006629	0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs7015490	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[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];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7017706	0.82[JPT][hapmap]
rs7017716	0.82[JPT][hapmap]
rs71503461	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7459811	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7459897	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs7460028	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7460251	1.00[CEU][hapmap];0.93[GIH][hapmap];0.93[TSI][hapmap]
rs7460286	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[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];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7460439	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap]
rs7461413	0.82[JPT][hapmap]
rs7461767	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7462727	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7465511	0.82[JPT][hapmap]
rs7819454	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7820234	0.82[JPT][hapmap]
rs7820697	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap]
rs7824469	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7825405	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7830128	0.87[ASN][1000 genomes]
rs7832493	0.82[JPT][hapmap]
rs7835743	0.96[EUR][1000 genomes]
rs7837569	0.82[JPT][hapmap]
rs7838007	0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7839601	0.82[JPT][hapmap]
rs7846090	0.82[JPT][hapmap]
rs9283961	0.96[ASN][1000 genomes]
rs9642913	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9942792	0.81[JPT][hapmap]
rs9942823	0.80[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv891147	chr8:86886950-87333968	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv429926	chr8:87161695-87429872	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1023114	chr8:87167184-87335197	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1033960	chr8:87167790-87334194	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1016050	chr8:87167790-87335197	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1023772	chr8:87177368-87334194	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1031874	chr8:87177368-87335197	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1030401	chr8:87177368-87337260	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	esv2761445	chr8:87185470-87335197	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
13	nsv519507	chr8:87187195-87333968	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	esv3360246	chr8:87200232-87419244	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
15	nsv611708	chr8:87205885-87333968	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv1017535	chr8:87261702-87367934	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7017719	CALB1	cis	cerebellum	SCAN
rs7017719	FAM82B	cis	cerebellum	SCAN
rs7017719	FAM82B	Cis_1M	lymphoblastoid	RTeQTL
rs7017719	FAM82B	cis	parietal	SCAN
rs7017719	CPNE3	cis	cerebellum	SCAN
rs7017719	CPNE3	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87330800-87334800	Enhancers	Fetal Lung	lung
2	chr8:87331200-87334400	Weak transcription	Esophagus	oesophagus
3	chr8:87332200-87334200	Enhancers	Ovary	ovary
4	chr8:87332200-87334400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr8:87332200-87334800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:87332200-87334800	Enhancers	Placenta	Placenta
7	chr8:87332200-87334800	Enhancers	NHEK	skin
8	chr8:87332400-87334400	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr8:87332400-87334600	Weak transcription	Left Ventricle	heart
10	chr8:87332800-87334000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:87332800-87334200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr8:87332800-87334200	Enhancers	A549	lung
13	chr8:87332800-87334600	Enhancers	HepG2	liver
14	chr8:87332800-87334800	Enhancers	Liver	Liver
15	chr8:87333000-87334000	Weak transcription	Primary T cells from cord blood	blood
16	chr8:87333200-87334800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:87333400-87334000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:87333400-87334000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr8:87333400-87334000	Enhancers	Psoas Muscle	Psoas
20	chr8:87333400-87334600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:87333400-87334600	Enhancers	HMEC	breast
22	chr8:87333400-87337200	Weak transcription	Brain Germinal Matrix	brain
23	chr8:87333600-87334000	Enhancers	Colon Smooth Muscle	Colon
24	chr8:87333600-87334200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr8:87333600-87334600	Enhancers	Fetal Stomach	stomach
26	chr8:87333800-87334200	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr8:87333800-87334400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr8:87333800-87334400	Enhancers	Hela-S3	cervix

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