Variant report

Variant	rs4285463
Chromosome Location	chr8:87329508-87329509
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:87329069..87335338-chr8:87352769..87359177,10	MCF-7	breast:
2	chr8:87327910..87330150-chr8:87330958..87333182,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254231	Chromatin interaction
ENSG00000123124	Chromatin interaction

Extended variants
information (count: 120 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10088739	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs10089781	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10093238	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs10095129	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10095498	0.82[JPT][hapmap]
rs10095537	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10096168	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10096443	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs10103691	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10107072	0.96[ASN][1000 genomes]
rs10956800	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10956803	0.84[ASN][1000 genomes]
rs10956853	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs1142528	0.85[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs11775728	0.81[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11781016	0.95[JPT][hapmap]
rs11781850	0.81[EUR][1000 genomes]
rs11787036	0.81[ASN][1000 genomes]
rs11787318	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11997234	0.99[ASN][1000 genomes]
rs12543856	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12544731	0.85[JPT][hapmap]
rs12547308	0.86[EUR][1000 genomes]
rs12547467	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs13042	0.82[JPT][hapmap]
rs13249753	0.82[JPT][hapmap]
rs13251647	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs17608598	0.82[ASN][1000 genomes]
rs17608967	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs17680688	0.84[EUR][1000 genomes]
rs17681618	0.89[ASN][1000 genomes]
rs2976193	0.84[EUR][1000 genomes]
rs2976197	0.84[EUR][1000 genomes]
rs3883910	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4445206	0.86[EUR][1000 genomes]
rs4484676	0.81[CEU][hapmap];0.86[JPT][hapmap]
rs4567013	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs4581032	0.93[ASN][1000 genomes]
rs4587306	0.82[JPT][hapmap]
rs4961172	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs4961173	0.86[EUR][1000 genomes]
rs4961175	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs4961187	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4961190	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4961193	0.82[JPT][hapmap]
rs4961194	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4961196	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs5024450	0.90[ASN][1000 genomes]
rs5025329	0.96[CEU][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs55727343	0.80[ASN][1000 genomes]
rs55807259	0.90[ASN][1000 genomes]
rs56114127	0.84[EUR][1000 genomes]
rs56122638	0.83[ASN][1000 genomes]
rs56268675	0.86[ASN][1000 genomes]
rs57644875	0.81[ASN][1000 genomes]
rs60935442	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62509414	0.86[ASN][1000 genomes]
rs62509419	0.85[ASN][1000 genomes]
rs62509421	0.83[ASN][1000 genomes]
rs6415565	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs6471273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6471279	0.99[ASN][1000 genomes]
rs6471280	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471281	0.96[ASN][1000 genomes]
rs6471296	0.82[JPT][hapmap]
rs6471309	0.82[JPT][hapmap]
rs6471352	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs6471354	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs6471360	0.82[JPT][hapmap]
rs6983925	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs6994005	0.84[JPT][hapmap]
rs6996052	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6999654	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs7003059	0.82[JPT][hapmap]
rs7005327	0.84[EUR][1000 genomes]
rs7006017	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs7006629	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs7015490	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7017716	0.82[JPT][hapmap]
rs7017719	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs71503461	0.87[ASN][1000 genomes]
rs72688540	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7459811	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs7459897	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7460028	0.96[ASN][1000 genomes]
rs7460286	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7460439	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7461767	0.99[ASN][1000 genomes]
rs7462727	0.96[ASN][1000 genomes]
rs7465511	0.82[JPT][hapmap]
rs7819454	0.93[ASN][1000 genomes]
rs7820697	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7824469	0.96[ASN][1000 genomes]
rs7825405	0.94[ASN][1000 genomes]
rs7830128	0.85[ASN][1000 genomes]
rs7837569	0.82[JPT][hapmap]
rs7838007	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9283961	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9642913	0.81[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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	nsv1020485	chr8:87167184-87330873	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	nsv1020459	chr8:87200116-87330912	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv539660	chr8:87200116-87330912	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	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
18	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
19	nsv1021125	chr8:87208343-87331289	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
20	nsv539661	chr8:87208343-87331289	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4285463	RMDN1	cis	Whole Blood	GTEx
rs4285463	FAM82B	cis	lesional skin	skin_eQTL
rs4285463	FAM82B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87318400-87333200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:87327000-87329600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr8:87328400-87332200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr8:87328400-87332400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr8:87328600-87332400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:87328600-87333800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr8:87328600-87333800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr8:87329200-87331000	Weak transcription	Esophagus	oesophagus

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