Variant report

Variant	rs13262672
Chromosome Location	chr8:87355812-87355813
allele	C/T
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	ZNF384	chr8:87355636-87355890	K562	blood:	n/a	n/a
2	SIN3AK20	chr8:87353102-87355951	MCF-7	breast:	n/a	n/a
3	MAZ	chr8:87354301-87355985	GM12878	blood:	n/a	n/a
4	TCF12	chr8:87355262-87355958	A549	lung:	n/a	n/a
5	POLR2A	chr8:87353918-87355892	GM12891	blood:	n/a	n/a
6	TBL1XR1	chr8:87355667-87355868	K562	blood:	n/a	n/a
7	EP300	chr8:87355478-87355897	K562	blood:	n/a	n/a
8	MAFF	chr8:87355699-87355816	K562	blood:	n/a	n/a
9	TBL1XR1	chr8:87355459-87355866	K562	blood:	n/a	n/a
10	RCOR1	chr8:87353890-87355874	K562	blood:	n/a	n/a
11	NFIC	chr8:87355486-87356016	HepG2	liver:	n/a	n/a
12	POLR2A	chr8:87353881-87355863	Hela-S3	cervix:	n/a	n/a
13	MAX	chr8:87353502-87355834	MCF-7	breast:	n/a	n/a
14	HEY1	chr8:87354260-87355957	HepG2	liver:	n/a	chr8:87355035-87355050 chr8:87354621-87354636 chr8:87355123-87355138
15	POLR2A	chr8:87353934-87355838	ProgFib	skin:	n/a	n/a
16	NR2F2	chr8:87355354-87355839	K562	blood:	n/a	n/a
17	NR2F2	chr8:87353677-87356047	MCF-7	breast:	n/a	n/a
18	TCF7L2	chr8:87355783-87355992	HepG2	liver:	n/a	n/a
19	TCF7L2	chr8:87355747-87356982	HEK293	kidney:	n/a	chr8:87356844-87356853 chr8:87355762-87355771 chr8:87355759-87355773 chr8:87356599-87356613
20	SIN3A	chr8:87354443-87356104	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr8:87355401-87355866	H1-hESC	embryonic stem cell:	n/a	n/a
22	HEY1	chr8:87355664-87355945	HepG2	liver:	n/a	n/a
23	MAZ	chr8:87354301-87356057	IMR90	lung:	n/a	n/a
24	GATA3	chr8:87353543-87355992	MCF-7	breast:	n/a	chr8:87355733-87355740 chr8:87355731-87355743 chr8:87354009-87354020 chr8:87355730-87355740
25	CHD1	chr8:87355238-87356145	H1-hESC	embryonic stem cell:	n/a	n/a
26	JUND	chr8:87355346-87355864	K562	blood:	n/a	chr8:87355656-87355665 chr8:87355657-87355666
27	SMC3	chr8:87355106-87355889	Hela-S3	cervix:	n/a	n/a
28	TBP	chr8:87355265-87355974	Hela-S3	cervix:	n/a	n/a
29	MAFK	chr8:87355672-87355900	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr8:87354307-87356420	MCF10A-Er-Src	breast:	n/a	n/a
31	MAFK	chr8:87355706-87355870	K562	blood:	n/a	n/a
32	JUN	chr8:87355689-87356032	K562	blood:	n/a	n/a
33	GATA3	chr8:87353500-87357444	MCF-7	breast:	n/a	chr8:87355733-87355740 chr8:87356469-87356485 chr8:87355731-87355743 chr8:87354009-87354020 chr8:87355730-87355740
34	RCOR1	chr8:87355525-87355858	K562	blood:	n/a	n/a
35	NR2F2	chr8:87355231-87356050	MCF-7	breast:	n/a	n/a

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
ENSG00000176623	Chromatin interaction
ENSG00000253675	Chromatin interaction
ENSG00000164893	Chromatin interaction
ENSG00000123124	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10086340	0.84[EUR][1000 genomes]
rs10093729	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10095498	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10097450	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10098356	0.88[EUR][1000 genomes]
rs10102749	0.84[ASN][1000 genomes]
rs10956830	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12541793	0.83[EUR][1000 genomes]
rs12549332	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12678720	0.84[EUR][1000 genomes]
rs12678772	0.84[EUR][1000 genomes]
rs12679811	0.83[EUR][1000 genomes]
rs13251006	0.82[EUR][1000 genomes]
rs13253261	0.83[EUR][1000 genomes]
rs13253296	0.83[EUR][1000 genomes]
rs13253515	0.83[EUR][1000 genomes]
rs13254675	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13256765	0.84[EUR][1000 genomes]
rs13258126	0.84[EUR][1000 genomes]
rs13264364	0.83[EUR][1000 genomes]
rs13273338	0.84[EUR][1000 genomes]
rs13280468	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28378899	0.88[EUR][1000 genomes]
rs28561640	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2953509	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2953510	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2953511	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2953516	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2953517	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2976177	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2976178	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2976179	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2976181	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2976201	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34227066	0.84[EUR][1000 genomes]
rs34794500	0.84[EUR][1000 genomes]
rs41469550	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4379426	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4379427	0.83[EUR][1000 genomes]
rs4464946	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4490816	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4587306	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4623392	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4961188	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6471296	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6471309	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6471314	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6471316	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67123356	0.84[EUR][1000 genomes]
rs6992287	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6992944	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7003059	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7007855	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7017716	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7816275	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7820234	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7830480	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7832493	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7833049	0.84[EUR][1000 genomes]
rs7841690	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7846090	0.83[EUR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13262672	FAM82B	Cis_1M	lymphoblastoid	RTeQTL
rs13262672	RMDN1	cis	Whole Blood	GTEx

Chromatin state (count:125 , 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	chr8:87353800-87356000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:87353800-87356000	Active TSS	Brain Hippocampus Middle	brain
4	chr8:87353800-87356000	Active TSS	Rectal Smooth Muscle	rectum
5	chr8:87353800-87356800	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr8:87353800-87357400	Active TSS	Stomach Smooth Muscle	stomach
7	chr8:87354000-87356000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:87354000-87356000	Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr8:87354000-87356200	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr8:87354000-87356200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:87354000-87356200	Active TSS	Fetal Intestine Small	intestine
12	chr8:87354000-87356200	Active TSS	A549	lung
13	chr8:87354000-87356400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:87354000-87356400	Active TSS	HSMMtube	muscle
15	chr8:87354000-87356600	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr8:87354000-87356600	Active TSS	Muscle Satellite Cultured Cells	--
17	chr8:87354000-87356600	Active TSS	HSMM	muscle
18	chr8:87354000-87356800	Active TSS	Colon Smooth Muscle	Colon
19	chr8:87354000-87356800	Active TSS	Fetal Brain Male	brain
20	chr8:87354000-87356800	Active TSS	Ovary	ovary
21	chr8:87354000-87357000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:87354000-87357000	Active TSS	GM12878-XiMat	blood
23	chr8:87354000-87357000	Active TSS	NHLF	lung
24	chr8:87354000-87357200	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr8:87354000-87357400	Active TSS	Fetal Intestine Large	intestine
26	chr8:87354000-87357600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:87354000-87357600	Active TSS	Right Atrium	heart
28	chr8:87354000-87358200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:87354200-87356000	Active TSS	Fetal Muscle Trunk	muscle
30	chr8:87354200-87356200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:87354200-87356600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr8:87354200-87356600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:87354200-87356600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr8:87354200-87356800	Active TSS	H9 Cell Line	embryonic stem cell
35	chr8:87354200-87356800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:87354200-87356800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:87354200-87356800	Active TSS	Aorta	Aorta
38	chr8:87354200-87356800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr8:87354200-87356800	Active TSS	Fetal Lung	lung
40	chr8:87354200-87356800	Active TSS	Thymus	Thymus
41	chr8:87354200-87357000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:87354200-87357000	Active TSS	NH-A	brain
43	chr8:87354200-87357200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr8:87354200-87357200	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr8:87354200-87357200	Active TSS	Fetal Stomach	stomach
46	chr8:87354200-87357200	Active TSS	Left Ventricle	heart
47	chr8:87354200-87357400	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr8:87354200-87357400	Active TSS	Liver	Liver
49	chr8:87354200-87357400	Active TSS	Right Ventricle	heart
50	chr8:87354200-87357600	Active TSS	HUES48 Cell Line	embryonic stem cell

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