Variant report

Variant	rs56039487
Chromosome Location	chr8:87359437-87359438
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:87359300-87359450	GM12873	blood:	n/a	n/a
2	CTCF	chr8:87359420-87359570	BJ	skin:	n/a	n/a
3	CTCF	chr8:87359320-87359470	GM06990	blood:	n/a	n/a
4	CTCF	chr8:87359380-87359530	HRE	kidney:	n/a	n/a
5	CTCF	chr8:87359320-87359470	HRE	kidney:	n/a	n/a
6	CTCF	chr8:87359340-87359490	HCPEpiC	choroid plexus:	n/a	n/a
7	CTCF	chr8:87359380-87359530	MCF-7	breast:	n/a	n/a
8	CTCF	chr8:87359420-87359570	SAEC	small airway:	n/a	n/a
9	CTCF	chr8:87359320-87359470	GM12875	blood:	n/a	n/a
10	CTCF	chr8:87359300-87359450	AG04450	lung:	n/a	n/a
11	CTCF	chr8:87359420-87359570	HEEpiC	esophagus:	n/a	n/a
12	CTCF	chr8:87359420-87359570	HRPEpiC	eye:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:87358214..87359951-chr8:87363594..87365378,2	K562	blood:
2	chr8:87127285..87128795-chr8:87356726..87359670,2	MCF-7	breast:
3	chr8:87304779..87307232-chr8:87358257..87360787,2	MCF-7	breast:
4	chr8:87146111..87148052-chr8:87358849..87360732,2	MCF-7	breast:
5	chr8:87160493..87162420-chr8:87358494..87360237,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254231	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10093379	0.82[EUR][1000 genomes]
rs10095129	0.81[EUR][1000 genomes]
rs10096168	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10103691	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10107072	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10956800	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10956802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10956803	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11782512	0.83[EUR][1000 genomes]
rs11787318	0.93[EUR][1000 genomes]
rs11997234	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12543856	0.96[EUR][1000 genomes]
rs12543887	0.87[EUR][1000 genomes]
rs12544731	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17608598	0.96[EUR][1000 genomes]
rs17680688	0.80[ASN][1000 genomes]
rs17680712	0.84[ASN][1000 genomes]
rs17681618	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34895735	0.89[EUR][1000 genomes]
rs4581032	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4961190	0.89[EUR][1000 genomes]
rs5024450	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs5025329	0.80[ASN][1000 genomes]
rs55727343	0.83[EUR][1000 genomes]
rs55807259	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56102132	0.84[EUR][1000 genomes]
rs56114127	0.80[ASN][1000 genomes]
rs56268675	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56395805	0.90[EUR][1000 genomes]
rs57326273	0.88[EUR][1000 genomes]
rs57644875	0.83[EUR][1000 genomes]
rs60935442	0.91[ASN][1000 genomes]
rs62509377	0.84[ASN][1000 genomes]
rs62509414	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62509421	0.97[EUR][1000 genomes]
rs62510798	0.84[EUR][1000 genomes]
rs6471279	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6471281	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6471345	0.82[EUR][1000 genomes]
rs6988601	0.81[EUR][1000 genomes]
rs6996052	0.89[EUR][1000 genomes]
rs7005327	0.80[ASN][1000 genomes]
rs7015490	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7017719	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs71503461	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72688540	0.87[ASN][1000 genomes]
rs7460286	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7461767	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7462727	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7819454	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7824469	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7825405	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7835743	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[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	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	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
4	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
5	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
6	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
7	esv3441725	chr8:87342885-87359895	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56039487	FAM82B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87355800-87363600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:87355800-87363800	Weak transcription	Esophagus	oesophagus
3	chr8:87355800-87405600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:87356800-87403800	Weak transcription	Aorta	Aorta
5	chr8:87357000-87362800	Weak transcription	Fetal Kidney	kidney
6	chr8:87357000-87366400	Weak transcription	Fetal Lung	lung
7	chr8:87357000-87375600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:87357200-87360600	Weak transcription	Fetal Stomach	stomach
9	chr8:87357200-87360600	Weak transcription	Osteobl	bone
10	chr8:87357200-87365000	Weak transcription	Brain Substantia Nigra	brain
11	chr8:87357200-87366000	Weak transcription	Brain Hippocampus Middle	brain
12	chr8:87357200-87368800	Weak transcription	Primary B cells from cord blood	blood
13	chr8:87357200-87369600	Weak transcription	HSMM	muscle
14	chr8:87357400-87359600	Enhancers	Primary T cells fromperipheralblood	blood
15	chr8:87357400-87360000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr8:87357400-87361000	Weak transcription	Gastric	stomach
17	chr8:87357400-87361600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr8:87357400-87361800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr8:87357400-87362200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr8:87357400-87362800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:87357400-87363000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr8:87357400-87363000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr8:87357400-87364400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr8:87357400-87364600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:87357400-87364600	Weak transcription	Lung	lung
26	chr8:87357400-87367200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:87357400-87368000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:87357400-87372600	Weak transcription	Fetal Intestine Small	intestine
29	chr8:87357400-87403400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr8:87357600-87360200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr8:87357600-87360800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr8:87357600-87361000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr8:87357600-87361600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr8:87357600-87361600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr8:87357600-87361800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr8:87357600-87361800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr8:87357600-87361800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr8:87357600-87361800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr8:87357600-87361800	Weak transcription	Right Atrium	heart
40	chr8:87357600-87361800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr8:87357600-87362000	Weak transcription	Right Ventricle	heart
42	chr8:87357600-87362600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr8:87357600-87364200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr8:87357600-87364800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr8:87357600-87364800	Weak transcription	Fetal Muscle Leg	muscle
46	chr8:87357600-87364800	Weak transcription	K562	blood
47	chr8:87357600-87366000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr8:87357600-87368800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:87357600-87368800	Weak transcription	Brain Angular Gyrus	brain
50	chr8:87357600-87374600	Weak transcription	HUVEC	blood vessel

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