Variant report

Variant	rs11993015
Chromosome Location	chr8:67036312-67036313
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	NR3C1	chr8:67036144-67036488	A549	lung:	n/a	n/a
3	ELK1	chr8:67036150-67036654	Hela-S3	cervix:	n/a	n/a
4	FOSL1	chr8:67036155-67036476	K562	blood:	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
5	RAD21	chr8:67035999-67036908	IMR90	lung:	n/a	n/a
6	SIN3AK20	chr8:67035916-67036999	MCF-7	breast:	n/a	n/a
7	TCF7L2	chr8:67036109-67036762	Hela-S3	cervix:	n/a	chr8:67036319-67036328
8	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
9	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
10	NFIC	chr8:67035997-67036540	GM12878	blood:	n/a	n/a
11	STAT3	chr8:67036071-67036883	MCF10A-Er-Src	breast:	n/a	chr8:67036556-67036563
12	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
13	MTA3	chr8:67036096-67036611	GM12878	blood:	n/a	n/a
14	ZBTB33	chr8:67036047-67037047	A549	lung:	n/a	n/a
15	BATF	chr8:67036154-67036468	GM12878	blood:	n/a	chr8:67036319-67036330
16	GABPA	chr8:67036037-67036857	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr8:67036113-67036725	SK-N-SH	brain:	n/a	n/a
18	EP300	chr8:67036190-67036838	GM12878	blood:	n/a	chr8:67036557-67036566 chr8:67036318-67036327
19	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
20	RUNX3	chr8:67035946-67036846	GM12878	blood:	n/a	n/a
21	STAT3	chr8:67036181-67036389	MCF10A-Er-Src	breast:	n/a	n/a
22	NR2F2	chr8:67036104-67036628	K562	blood:	n/a	n/a
23	POU2F2	chr8:67036099-67036901	GM12878	blood:	n/a	n/a
24	ELF1	chr8:67036060-67036792	MCF-7	breast:	n/a	chr8:67036363-67036376
25	NR3C1	chr8:67036199-67036997	A549	lung:	n/a	n/a
26	SPI1	chr8:67036250-67036460	GM12878	blood:	n/a	n/a
27	RCOR1	chr8:67036307-67036530	GM12878	blood:	n/a	n/a
28	BCL3	chr8:67035949-67037466	A549	lung:	n/a	n/a
29	GTF2F1	chr8:67036006-67036631	Hela-S3	cervix:	n/a	n/a
30	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
31	REST	chr8:67036075-67036706	PFSK-1	brain:	n/a	n/a
32	IKZF1	chr8:67036063-67036850	GM12878	blood:	n/a	n/a
33	EP300	chr8:67036045-67036690	MCF-7	breast:	n/a	chr8:67036557-67036566 chr8:67036318-67036327
34	BRCA1	chr8:67036065-67036538	Hela-S3	cervix:	n/a	n/a
35	ESR1	chr8:67036167-67036589	ECC-1	luminal epithelium:	n/a	chr8:67036402-67036417
36	EP300	chr8:67036024-67036660	Hela-S3	cervix:	n/a	chr8:67036557-67036566 chr8:67036318-67036327
37	SPI1	chr8:67036043-67036637	GM12878	blood:	n/a	n/a
38	TFAP2C	chr8:67036151-67036710	Hela-S3	cervix:	n/a	chr8:67036348-67036363
39	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
40	POLR2A	chr8:67036031-67036911	HCT-116	colon:	n/a	n/a
41	ESR1	chr8:67036160-67036660	T-47D	breast:	n/a	chr8:67036402-67036417
42	STAT3	chr8:67036141-67036551	MCF10A-Er-Src	breast:	n/a	n/a
43	EP300	chr8:67036036-67037123	T-47D	breast:	n/a	chr8:67036557-67036566 chr8:67036318-67036327
44	EP300	chr8:67036086-67036836	ECC-1	luminal epithelium:	n/a	chr8:67036557-67036566 chr8:67036318-67036327
45	MAZ	chr8:67036126-67036746	Hela-S3	cervix:	n/a	n/a
46	RAD21	chr8:67036030-67036504	SK-N-SH_RA	brain:	n/a	n/a
47	POLR2A	chr8:67035925-67037039	HUVEC	blood vessel:	n/a	n/a
48	EP300	chr8:67035765-67037026	SK-N-SH	brain:	n/a	chr8:67036557-67036566 chr8:67036318-67036327
49	MXI1	chr8:67036183-67036491	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr8:67036189-67036762	MCF10A-Er-Src	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	chr8:67036079..67036843-chr8:67626027..67626876,2	MCF-7	breast:
4	chr8:67035224..67038920-chr8:67039604..67043396,7	MCF-7	breast:
5	chr8:67036035..67036843-chr8:67626010..67626876,4	MCF-7	breast:
6	chr8:67035768..67039915-chr8:67339207..67342855,3	MCF-7	breast:
7	chr8:67035951..67036828-chr8:67336967..67337788,2	MCF-7	breast:
8	chr8:67030286..67032374-chr8:67034685..67037786,3	K562	blood:
9	chr8:67034311..67037696-chr8:67040504..67042918,4	MCF-7	breast:
10	chr8:67035189..67037857-chr8:67039133..67040862,2	K562	blood:

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

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10092687	1.00[ASN][1000 genomes]
rs10095931	1.00[ASN][1000 genomes]
rs10101457	1.00[ASN][1000 genomes]
rs10113208	1.00[ASN][1000 genomes]
rs11986805	1.00[ASN][1000 genomes]
rs11987000	1.00[EUR][1000 genomes]
rs11988053	1.00[ASN][1000 genomes]
rs12334408	1.00[ASN][1000 genomes]
rs16932461	0.81[EUR][1000 genomes]
rs16932465	0.81[EUR][1000 genomes]
rs16932468	0.81[EUR][1000 genomes]
rs16932514	1.00[ASN][1000 genomes]
rs16932544	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28364018	1.00[ASN][1000 genomes]
rs28491110	0.81[EUR][1000 genomes]
rs4366069	1.00[ASN][1000 genomes]
rs4495409	1.00[ASN][1000 genomes]
rs4496952	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56409403	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56411320	0.89[EUR][1000 genomes]
rs56981664	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58195552	0.89[EUR][1000 genomes]
rs59142644	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472249	1.00[ASN][1000 genomes]
rs6472251	1.00[ASN][1000 genomes]
rs6988195	1.00[ASN][1000 genomes]
rs7008359	1.00[ASN][1000 genomes]
rs7008578	1.00[ASN][1000 genomes]
rs73246516	1.00[ASN][1000 genomes]
rs73246529	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73246531	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73246553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73246560	0.86[AFR][1000 genomes]
rs73691276	0.89[EUR][1000 genomes]
rs73691300	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834423	1.00[ASN][1000 genomes]
rs7835948	1.00[ASN][1000 genomes]
rs7845334	1.00[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

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67027800-67036400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr8:67028000-67036400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:67031400-67037400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:67031600-67038000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:67031800-67036400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:67032000-67038800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr8:67032200-67036400	Enhancers	NHDF-Ad	bronchial
8	chr8:67032200-67036400	Enhancers	Osteobl	bone
9	chr8:67032200-67036800	Enhancers	NH-A	brain
10	chr8:67032600-67037000	Enhancers	Placenta	Placenta
11	chr8:67032600-67038000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr8:67032800-67036400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:67032800-67036600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr8:67033000-67036400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:67033000-67036400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr8:67033200-67037200	Enhancers	GM12878-XiMat	blood
17	chr8:67033200-67037600	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr8:67033800-67036400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:67033800-67039000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:67034600-67038800	Enhancers	Fetal Heart	heart
21	chr8:67034800-67036400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr8:67035000-67036400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:67035000-67036400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr8:67035000-67036600	Enhancers	HMEC	breast
25	chr8:67035200-67036400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:67035400-67036400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:67035400-67036400	Enhancers	NHLF	lung
28	chr8:67035400-67037600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr8:67035400-67037600	Enhancers	HUVEC	blood vessel
30	chr8:67035400-67037800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:67035600-67036400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:67035600-67036400	Enhancers	Adipose Nuclei	Adipose
33	chr8:67035600-67036400	Enhancers	Liver	Liver
34	chr8:67035600-67036400	Enhancers	HSMM	muscle
35	chr8:67035600-67036800	Enhancers	Stomach Mucosa	stomach
36	chr8:67035600-67037200	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr8:67035800-67036600	Enhancers	Primary B cells from cord blood	blood
38	chr8:67035800-67036600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:67035800-67036800	Enhancers	Psoas Muscle	Psoas
40	chr8:67035800-67037000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr8:67035800-67037600	Enhancers	Fetal Muscle Leg	muscle
42	chr8:67035800-67037800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:67035800-67037800	Enhancers	Placenta Amnion	Placenta Amnion
44	chr8:67036000-67036400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:67036000-67036800	Enhancers	Colon Smooth Muscle	Colon
46	chr8:67036000-67036800	Flanking Active TSS	Hela-S3	cervix
47	chr8:67036000-67037000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:67036000-67037000	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr8:67036000-67037800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr8:67036200-67036400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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