Variant report

Variant	rs7819454
Chromosome Location	chr8:87356349-87356350
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	SIN3AK20	chr8:87356100-87357559	MCF-7	breast:	n/a	n/a
2	EP300	chr8:87356129-87356801	K562	blood:	n/a	n/a
3	POLR2A	chr8:87356176-87356921	MCF10A-Er-Src	breast:	n/a	n/a
4	FOXA1	chr8:87356331-87356874	HepG2	liver:	n/a	n/a
5	MAZ	chr8:87356242-87356365	GM12878	blood:	n/a	n/a
6	MXI1	chr8:87356259-87356433	K562	blood:	n/a	n/a
7	TCF7L2	chr8:87356324-87356876	HepG2	liver:	n/a	chr8:87356844-87356853 chr8:87356599-87356613
8	NFIC	chr8:87356185-87357041	HepG2	liver:	n/a	n/a
9	GATA3	chr8:87356303-87357050	T-47D	breast:	n/a	chr8:87356469-87356485
10	E2F4	chr8:87356264-87356861	MCF10A-Er-Src	breast:	n/a	n/a
11	GATA3	chr8:87356253-87356983	A549	lung:	n/a	chr8:87356469-87356485
12	TCF7L2	chr8:87355747-87356982	HEK293	kidney:	n/a	chr8:87356844-87356853 chr8:87355762-87355771 chr8:87355759-87355773 chr8:87356599-87356613
13	ESR1	chr8:87356347-87356803	T-47D	breast:	n/a	n/a
14	GATA3	chr8:87356349-87356876	T-47D	breast:	n/a	chr8:87356469-87356485
15	IRF1	chr8:87356263-87356755	K562	blood:	n/a	chr8:87356389-87356402 chr8:87356504-87356518 chr8:87356390-87356404
16	TCF7L2	chr8:87356306-87356983	MCF-7	breast:	n/a	chr8:87356844-87356853 chr8:87356599-87356613
17	MYC	chr8:87356289-87356618	MCF10A-Er-Src	breast:	n/a	n/a
18	MYBL2	chr8:87356334-87357045	HepG2	liver:	n/a	n/a
19	HEY1	chr8:87356310-87357253	HepG2	liver:	n/a	n/a
20	GATA2	chr8:87356271-87356874	HUVEC	blood vessel:	n/a	chr8:87356469-87356485
21	POLR2A	chr8:87356236-87357479	HepG2	liver:	n/a	n/a
22	HDAC2	chr8:87356271-87356897	MCF-7	breast:	n/a	chr8:87356651-87356665
23	NR2F2	chr8:87356290-87356911	MCF-7	breast:	n/a	n/a
24	POLR2A	chr8:87354307-87356420	MCF10A-Er-Src	breast:	n/a	n/a
25	GATA3	chr8:87356175-87357140	MCF-7	breast:	n/a	chr8:87356469-87356485
26	MYC	chr8:87356345-87356568	K562	blood:	n/a	n/a
27	MBD4	chr8:87356132-87356862	HepG2	liver:	n/a	n/a
28	GATA3	chr8:87353500-87357444	MCF-7	breast:	n/a	chr8:87355733-87355740 chr8:87356469-87356485 chr8:87355731-87355743 chr8:87354009-87354020 chr8:87355730-87355740

No.	Distal block	Cell Line	Cell type
1	chr8:87329069..87335338-chr8:87352769..87359177,10	MCF-7	breast:
2	chr8:87353718..87358209-chr8:87386085..87389077,4	MCF-7	breast:
3	chr8:87165113..87167523-chr8:87354412..87356761,2	MCF-7	breast:
4	chr8:87355027..87357482-chr8:87519258..87521837,2	K562	blood:

Variant related genes	Relation type
ENSG00000254231	TF binding region
ENSG00000123124	Chromatin interaction
ENSG00000176623	Chromatin interaction
ENSG00000253675	Chromatin interaction
ENSG00000164893	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10089781	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10093379	0.82[EUR][1000 genomes]
rs10095129	0.81[EUR][1000 genomes]
rs10095537	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10096168	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10103691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10107072	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10956800	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10956802	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10956803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11775728	0.88[ASN][1000 genomes]
rs11782512	0.83[EUR][1000 genomes]
rs11787036	0.88[ASN][1000 genomes]
rs11787318	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11997234	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12543856	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12543887	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12544731	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17608598	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17608967	0.83[ASN][1000 genomes]
rs17681618	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34895735	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4285463	0.93[ASN][1000 genomes]
rs4581032	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4961187	0.94[ASN][1000 genomes]
rs4961189	0.84[ASN][1000 genomes]
rs4961190	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5024450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55727343	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55807259	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56039487	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56096624	0.85[ASN][1000 genomes]
rs56102132	0.84[EUR][1000 genomes]
rs56122638	0.89[ASN][1000 genomes]
rs56268675	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56395805	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57326273	0.88[EUR][1000 genomes]
rs57644875	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62509414	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62509419	0.92[ASN][1000 genomes]
rs62509421	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62510798	0.84[EUR][1000 genomes]
rs6471273	0.93[ASN][1000 genomes]
rs6471279	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6471280	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6471281	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471345	0.82[EUR][1000 genomes]
rs6988601	0.81[EUR][1000 genomes]
rs6996052	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7006017	0.85[ASN][1000 genomes]
rs7015490	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017719	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71503461	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7460028	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7460286	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7461767	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7462727	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7824469	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7825405	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7830128	0.92[ASN][1000 genomes]
rs7835743	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7838007	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs9283961	0.90[ASN][1000 genomes]
rs9642913	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
8	esv3358016	chr8:87353861-87356409	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv3353126	chr8:87353861-87356559	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7819454	FAM82B	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87353600-87357400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:87353800-87356800	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr8:87353800-87357400	Active TSS	Stomach Smooth Muscle	stomach
4	chr8:87354000-87356400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:87354000-87356400	Active TSS	HSMMtube	muscle
6	chr8:87354000-87356600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr8:87354000-87356600	Active TSS	Muscle Satellite Cultured Cells	--
8	chr8:87354000-87356600	Active TSS	HSMM	muscle
9	chr8:87354000-87356800	Active TSS	Colon Smooth Muscle	Colon
10	chr8:87354000-87356800	Active TSS	Fetal Brain Male	brain
11	chr8:87354000-87356800	Active TSS	Ovary	ovary
12	chr8:87354000-87357000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:87354000-87357000	Active TSS	GM12878-XiMat	blood
14	chr8:87354000-87357000	Active TSS	NHLF	lung
15	chr8:87354000-87357200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr8:87354000-87357400	Active TSS	Fetal Intestine Large	intestine
17	chr8:87354000-87357600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:87354000-87357600	Active TSS	Right Atrium	heart
19	chr8:87354000-87358200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:87354200-87356600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr8:87354200-87356600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:87354200-87356600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr8:87354200-87356800	Active TSS	H9 Cell Line	embryonic stem cell
24	chr8:87354200-87356800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:87354200-87356800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:87354200-87356800	Active TSS	Aorta	Aorta
27	chr8:87354200-87356800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr8:87354200-87356800	Active TSS	Fetal Lung	lung
29	chr8:87354200-87356800	Active TSS	Thymus	Thymus
30	chr8:87354200-87357000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:87354200-87357000	Active TSS	NH-A	brain
32	chr8:87354200-87357200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr8:87354200-87357200	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr8:87354200-87357200	Active TSS	Fetal Stomach	stomach
35	chr8:87354200-87357200	Active TSS	Left Ventricle	heart
36	chr8:87354200-87357400	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr8:87354200-87357400	Active TSS	Liver	Liver
38	chr8:87354200-87357400	Active TSS	Right Ventricle	heart
39	chr8:87354200-87357600	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr8:87354200-87357600	Active TSS	Fetal Muscle Leg	muscle
41	chr8:87354400-87356400	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr8:87354400-87356400	Active TSS	K562	blood
43	chr8:87354400-87356400	Active TSS	NHDF-Ad	bronchial
44	chr8:87354400-87356600	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr8:87354400-87356600	Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr8:87354400-87356600	Active TSS	Duodenum Mucosa	Duodenum
47	chr8:87354400-87356800	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr8:87354400-87356800	Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr8:87354400-87356800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr8:87354400-87356800	Active TSS	Brain Angular Gyrus	brain

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