Variant report

Variant	rs7843077
Chromosome Location	chr8:67036573-67036574
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	YY1	chr8:67036242-67036928	A549	lung:	n/a	n/a
2	ELK1	chr8:67036150-67036654	Hela-S3	cervix:	n/a	n/a
3	RAD21	chr8:67035999-67036908	IMR90	lung:	n/a	n/a
4	SIN3AK20	chr8:67035916-67036999	MCF-7	breast:	n/a	n/a
5	TCF7L2	chr8:67036109-67036762	Hela-S3	cervix:	n/a	chr8:67036319-67036328
6	JUND	chr8:67035927-67036789	MCF-7	breast:	n/a	chr8:67036318-67036328 chr8:67036319-67036327 chr8:67036264-67036275 chr8:67036318-67036328 chr8:67036319-67036327 chr8:67036318-67036328 chr8:67036318-67036328 chr8:67036320-67036327 chr8:67036317-67036328
7	FOS	chr8:67036049-67036884	MCF10A-Er-Src	breast:	n/a	chr8:67036318-67036328 chr8:67036319-67036327 chr8:67036264-67036275 chr8:67036318-67036328 chr8:67036319-67036327 chr8:67036317-67036328 chr8:67036318-67036328 chr8:67036318-67036328 chr8:67036320-67036327
8	STAT3	chr8:67036071-67036883	MCF10A-Er-Src	breast:	n/a	chr8:67036556-67036563
9	JUND	chr8:67036079-67036677	Hela-S3	cervix:	n/a	chr8:67036318-67036328 chr8:67036319-67036327 chr8:67036264-67036275 chr8:67036318-67036328 chr8:67036319-67036327 chr8:67036318-67036328 chr8:67036318-67036328 chr8:67036320-67036327 chr8:67036317-67036328
10	MTA3	chr8:67036096-67036611	GM12878	blood:	n/a	n/a
11	ZBTB33	chr8:67036047-67037047	A549	lung:	n/a	n/a
12	GABPA	chr8:67036037-67036857	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr8:67036113-67036725	SK-N-SH	brain:	n/a	n/a
14	EP300	chr8:67036190-67036838	GM12878	blood:	n/a	chr8:67036557-67036566 chr8:67036318-67036327
15	ELK1	chr8:67036326-67036662	GM12878	blood:	n/a	n/a
16	JUND	chr8:67036042-67037145	T-47D	breast:	n/a	chr8:67036318-67036328 chr8:67036319-67036327 chr8:67036264-67036275 chr8:67036318-67036328 chr8:67036319-67036327 chr8:67036318-67036328 chr8:67036318-67036328 chr8:67036320-67036327 chr8:67036317-67036328
17	RUNX3	chr8:67035946-67036846	GM12878	blood:	n/a	n/a
18	NR2F2	chr8:67036104-67036628	K562	blood:	n/a	n/a
19	POU2F2	chr8:67036099-67036901	GM12878	blood:	n/a	n/a
20	ELF1	chr8:67036060-67036792	MCF-7	breast:	n/a	chr8:67036363-67036376
21	NR3C1	chr8:67036199-67036997	A549	lung:	n/a	n/a
22	BCL3	chr8:67035949-67037466	A549	lung:	n/a	n/a
23	GTF2F1	chr8:67036006-67036631	Hela-S3	cervix:	n/a	n/a
24	FOSL1	chr8:67035992-67036888	HCT-116	colon:	n/a	chr8:67036317-67036328 chr8:67036318-67036328 chr8:67036319-67036327 chr8:67036318-67036328 chr8:67036319-67036327 chr8:67036318-67036328 chr8:67036318-67036328 chr8:67036320-67036327
25	REST	chr8:67036075-67036706	PFSK-1	brain:	n/a	n/a
26	IKZF1	chr8:67036063-67036850	GM12878	blood:	n/a	n/a
27	EP300	chr8:67036045-67036690	MCF-7	breast:	n/a	chr8:67036557-67036566 chr8:67036318-67036327
28	SMC3	chr8:67036552-67036710	GM12878	blood:	n/a	n/a
29	ESR1	chr8:67036167-67036589	ECC-1	luminal epithelium:	n/a	chr8:67036402-67036417
30	EP300	chr8:67036024-67036660	Hela-S3	cervix:	n/a	chr8:67036557-67036566 chr8:67036318-67036327
31	SPI1	chr8:67036043-67036637	GM12878	blood:	n/a	n/a
32	POLR2A	chr8:67036546-67036777	A549	lung:	n/a	n/a
33	TFAP2C	chr8:67036151-67036710	Hela-S3	cervix:	n/a	chr8:67036348-67036363
34	FOS	chr8:67036024-67036711	HUVEC	blood vessel:	n/a	chr8:67036318-67036328 chr8:67036319-67036327 chr8:67036264-67036275 chr8:67036318-67036328 chr8:67036319-67036327 chr8:67036317-67036328 chr8:67036318-67036328 chr8:67036318-67036328 chr8:67036320-67036327
35	POLR2A	chr8:67036031-67036911	HCT-116	colon:	n/a	n/a
36	ESR1	chr8:67036160-67036660	T-47D	breast:	n/a	chr8:67036402-67036417
37	EP300	chr8:67036036-67037123	T-47D	breast:	n/a	chr8:67036557-67036566 chr8:67036318-67036327
38	EP300	chr8:67036086-67036836	ECC-1	luminal epithelium:	n/a	chr8:67036557-67036566 chr8:67036318-67036327
39	TBP	chr8:67036337-67036690	GM12878	blood:	n/a	n/a
40	MAZ	chr8:67036126-67036746	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr8:67035925-67037039	HUVEC	blood vessel:	n/a	n/a
42	EP300	chr8:67035765-67037026	SK-N-SH	brain:	n/a	chr8:67036557-67036566 chr8:67036318-67036327
43	POLR2A	chr8:67036189-67036762	MCF10A-Er-Src	breast:	n/a	n/a
44	FOSL2	chr8:67035790-67037434	A549	lung:	n/a	chr8:67036318-67036328 chr8:67036319-67036327 chr8:67036318-67036328 chr8:67036319-67036327 chr8:67036318-67036328 chr8:67036318-67036328 chr8:67036318-67036329 chr8:67036320-67036327
45	PBX3	chr8:67036019-67036882	SK-N-SH	brain:	n/a	n/a
46	HA-E2F1	chr8:67036204-67036693	MCF-7	breast:	n/a	n/a
47	POLR2A	chr8:67035874-67037160	PANC-1	pancreas:	n/a	n/a
48	PBX3	chr8:67036048-67037057	A549	lung:	n/a	n/a
49	HDAC2	chr8:67036128-67036639	MCF-7	breast:	n/a	n/a
50	NR2F2	chr8:67036117-67037055	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:67034177..67036746-chr8:67340648..67343642,3	MCF-7	breast:
2	chr8:67023910..67027221-chr8:67034779..67037811,5	MCF-7	breast:
3	chr8:67024901..67027907-chr8:67036381..67039126,4	K562	blood:
4	chr8:67036079..67036843-chr8:67626027..67626876,2	MCF-7	breast:
5	chr8:67035224..67038920-chr8:67039604..67043396,7	MCF-7	breast:
6	chr8:67036035..67036843-chr8:67626010..67626876,4	MCF-7	breast:
7	chr8:67035768..67039915-chr8:67339207..67342855,3	MCF-7	breast:
8	chr8:67036323..67036925-chr8:67626370..67626996,2	MCF-7	breast:
9	chr8:67035951..67036828-chr8:67336967..67337788,2	MCF-7	breast:
10	chr8:67030286..67032374-chr8:67034685..67037786,3	K562	blood:
11	chr8:67034311..67037696-chr8:67040504..67042918,4	MCF-7	breast:
12	chr8:67035189..67037857-chr8:67039133..67040862,2	K562	blood:

Variant related genes	Relation type
TRIM55	TF binding region
ENSG00000253190	Chromatin interaction
ENSG00000147576	Chromatin interaction
ENSG00000179041	Chromatin interaction
ENSG00000246145	Chromatin interaction
ENSG00000147573	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10092687	0.92[CEU][hapmap]
rs10095931	0.84[CEU][hapmap]
rs10100725	0.82[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10101457	0.90[CEU][hapmap]
rs10112381	0.90[YRI][hapmap]
rs10113208	0.92[CEU][hapmap]
rs10113415	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10957366	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11780171	0.94[ASN][1000 genomes]
rs11785596	0.92[ASN][1000 genomes]
rs11993997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11997605	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12334408	0.92[CEU][hapmap]
rs13252033	0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs13252592	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs13253129	0.87[ASN][1000 genomes]
rs13253380	0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13257752	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs13261922	0.94[ASN][1000 genomes]
rs13264487	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13266516	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13274510	0.92[ASN][1000 genomes]
rs13276881	0.84[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs13279522	0.95[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13282248	0.91[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1870394	0.86[CHB][hapmap]
rs28825143	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4262310	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4366069	0.92[CEU][hapmap]
rs4419797	0.86[CHB][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap]
rs4495409	0.84[CEU][hapmap]
rs4628244	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6472246	0.87[ASW][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.91[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6472247	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6472248	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6472251	0.92[CEU][hapmap]
rs6988195	0.83[CEU][hapmap]
rs6990045	0.82[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6990839	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6999100	0.93[ASW][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.97[GIH][hapmap];0.91[MEX][hapmap];0.86[YRI][hapmap];0.83[ASN][1000 genomes]
rs7006611	0.94[JPT][hapmap]
rs7008359	0.84[CEU][hapmap]
rs7008578	0.92[CEU][hapmap]
rs7009913	0.90[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7010033	0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7014971	0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7016922	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7017358	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs71515499	0.86[ASN][1000 genomes]
rs7824630	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7825257	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7827531	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7834423	0.92[CEU][hapmap]
rs7835214	0.91[CHB][hapmap];0.84[CHD][hapmap];0.83[ASN][1000 genomes]
rs7835948	0.84[CEU][hapmap]
rs7845334	0.92[CEU][hapmap]
rs884839	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9298109	0.80[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap]
rs9298110	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7843077	ARMC1	cis	lymphoblastoid	seeQTL
rs7843077	ADHFE1	cis	cerebellum	SCAN

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67031400-67037400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr8:67031600-67038000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:67032000-67038800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr8:67032200-67036800	Enhancers	NH-A	brain
5	chr8:67032600-67037000	Enhancers	Placenta	Placenta
6	chr8:67032600-67038000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr8:67032800-67036600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr8:67033200-67037200	Enhancers	GM12878-XiMat	blood
9	chr8:67033200-67037600	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr8:67033800-67039000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:67034600-67038800	Enhancers	Fetal Heart	heart
12	chr8:67035000-67036600	Enhancers	HMEC	breast
13	chr8:67035400-67037600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr8:67035400-67037600	Enhancers	HUVEC	blood vessel
15	chr8:67035400-67037800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:67035600-67036800	Enhancers	Stomach Mucosa	stomach
17	chr8:67035600-67037200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr8:67035800-67036600	Enhancers	Primary B cells from cord blood	blood
19	chr8:67035800-67036600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:67035800-67036800	Enhancers	Psoas Muscle	Psoas
21	chr8:67035800-67037000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr8:67035800-67037600	Enhancers	Fetal Muscle Leg	muscle
23	chr8:67035800-67037800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:67035800-67037800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr8:67036000-67036800	Enhancers	Colon Smooth Muscle	Colon
26	chr8:67036000-67036800	Flanking Active TSS	Hela-S3	cervix
27	chr8:67036000-67037000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:67036000-67037000	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr8:67036000-67037800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr8:67036200-67036600	Enhancers	Fetal Thymus	thymus
31	chr8:67036200-67036600	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr8:67036200-67036600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr8:67036200-67036600	Active TSS	Rectal Smooth Muscle	rectum
34	chr8:67036200-67036600	Flanking Active TSS	HSMMtube	muscle
35	chr8:67036200-67036800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:67036200-67036800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr8:67036200-67036800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr8:67036200-67036800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:67036200-67036800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr8:67036200-67036800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:67036200-67036800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr8:67036200-67036800	Enhancers	Aorta	Aorta
43	chr8:67036200-67036800	Enhancers	Esophagus	oesophagus
44	chr8:67036200-67036800	Enhancers	Fetal Muscle Trunk	muscle
45	chr8:67036200-67036800	Enhancers	Left Ventricle	heart
46	chr8:67036200-67036800	Enhancers	Right Atrium	heart
47	chr8:67036200-67036800	Enhancers	Right Ventricle	heart
48	chr8:67036200-67036800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr8:67036200-67036800	Active TSS	Stomach Smooth Muscle	stomach
50	chr8:67036200-67036800	Enhancers	Spleen	Spleen

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