Variant report

Variant	rs11986805
Chromosome Location	chr8:67037100-67037101
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	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
2	BCL3	chr8:67035949-67037466	A549	lung:	n/a	n/a
3	EP300	chr8:67036036-67037123	T-47D	breast:	n/a	chr8:67036557-67036566 chr8:67036318-67036327
4	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
5	POLR2A	chr8:67035874-67037160	PANC-1	pancreas:	n/a	n/a
6	RCOR1	chr8:67035152-67037868	IMR90	lung:	n/a	n/a
7	TCF12	chr8:67035705-67037497	A549	lung:	n/a	n/a
8	JUND	chr8:67036569-67037127	A549	lung:	n/a	n/a
9	ESR1	chr8:67036039-67037184	T-47D	breast:	n/a	chr8:67036402-67036417
10	CUX1	chr8:67036920-67037298	K562	blood:	n/a	n/a
11	ETS1	chr8:67036080-67037104	A549	lung:	n/a	chr8:67036553-67036564 chr8:67036553-67036566 chr8:67036551-67036565
12	FOXA2	chr8:67036042-67037225	A549	lung:	n/a	n/a
13	MAX	chr8:67035968-67037681	A549	lung:	n/a	n/a
14	GABPA	chr8:67035973-67037101	A549	lung:	n/a	n/a
15	JUND	chr8:67035905-67037273	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
16	GATA3	chr8:67036094-67037216	T-47D	breast:	n/a	n/a
17	CEBPB	chr8:67035770-67037261	A549	lung:	n/a	chr8:67036043-67036054
18	SIX5	chr8:67035552-67037346	A549	lung:	n/a	n/a
19	TCF7L2	chr8:67036113-67037161	PANC-1	pancreas:	n/a	chr8:67036319-67036328
20	PBX3	chr8:67036158-67037105	A549	lung:	n/a	n/a
21	MAX	chr8:67035912-67037737	A549	lung:	n/a	n/a
22	ESR1	chr8:67036063-67037231	T-47D	breast:	n/a	chr8:67036402-67036417
23	GATA3	chr8:67035729-67037262	T-47D	breast:	n/a	n/a
24	TCF12	chr8:67036015-67037163	A549	lung:	n/a	n/a
25	GATA3	chr8:67036100-67037125	A549	lung:	n/a	n/a
26	SP1	chr8:67035625-67037496	A549	lung:	n/a	n/a
27	ESR1	chr8:67036058-67037191	T-47D	breast:	n/a	chr8:67036402-67036417
28	TEAD4	chr8:67036013-67037351	A549	lung:	n/a	n/a
29	JUN	chr8:67035836-67037367	K562	blood:	n/a	chr8:67036318-67036328 chr8:67036319-67036327 chr8:67036318-67036328 chr8:67036319-67036327 chr8:67036318-67036328 chr8:67036318-67036328 chr8:67036320-67036327
30	TEAD4	chr8:67035919-67037233	A549	lung:	n/a	n/a
31	MXI1	chr8:67036026-67037249	IMR90	lung:	n/a	n/a
32	SIN3AK20	chr8:67036130-67037175	A549	lung:	n/a	n/a
33	ATF3	chr8:67036047-67037212	A549	lung:	n/a	n/a
34	MAX	chr8:67035979-67037105	HCT-116	colon:	n/a	n/a
35	TBL1XR1	chr8:67036921-67037179	K562	blood:	n/a	n/a
36	ESR1	chr8:67036145-67037149	T-47D	breast:	n/a	chr8:67036402-67036417
37	E2F6	chr8:67037100-67037737	A549	lung:	n/a	n/a
38	BCL3	chr8:67035948-67037184	A549	lung:	n/a	n/a
39	EP300	chr8:67035925-67037214	T-47D	breast:	n/a	chr8:67036557-67036566 chr8:67036318-67036327
40	GATA3	chr8:67035558-67037565	A549	lung:	n/a	n/a
41	SP1	chr8:67035823-67037343	A549	lung:	n/a	n/a
42	EP300	chr8:67035796-67037430	A549	lung:	n/a	chr8:67036557-67036566 chr8:67036318-67036327
43	FOXA2	chr8:67036006-67037125	A549	lung:	n/a	n/a
44	NR3C1	chr8:67036095-67037100	A549	lung:	n/a	n/a
45	REST	chr8:67035954-67037188	A549	lung:	n/a	n/a
46	ATF3	chr8:67036033-67037119	A549	lung:	n/a	n/a
47	GATA1	chr8:67036731-67037786	PBDE	blood:	n/a	n/a
48	EP300	chr8:67035693-67037524	A549	lung:	n/a	chr8:67036557-67036566 chr8:67036318-67036327 chr8:67035753-67035767

No.	Distal block	Cell Line	Cell type
1	chr8:67023910..67027221-chr8:67034779..67037811,5	MCF-7	breast:
2	chr8:67024901..67027907-chr8:67036381..67039126,4	K562	blood:
3	chr8:67035224..67038920-chr8:67039604..67043396,7	MCF-7	breast:
4	chr8:67035768..67039915-chr8:67339207..67342855,3	MCF-7	breast:
5	chr8:67030286..67032374-chr8:67034685..67037786,3	K562	blood:
6	chr8:67034311..67037696-chr8:67040504..67042918,4	MCF-7	breast:
7	chr8:67035189..67037857-chr8:67039133..67040862,2	K562	blood:

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

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10092687	0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10093091	0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs10095931	0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10101457	0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10104916	0.82[YRI][hapmap];0.83[AFR][1000 genomes]
rs10113208	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986216	0.96[YRI][hapmap];0.93[AFR][1000 genomes]
rs11988053	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993015	1.00[ASN][1000 genomes]
rs11997416	0.83[YRI][hapmap]
rs12334408	0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932514	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932544	1.00[ASN][1000 genomes]
rs2357669	1.00[ASN][1000 genomes]
rs28364018	1.00[ASN][1000 genomes]
rs3176921	0.82[YRI][hapmap]
rs4366069	0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4495409	0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4496952	1.00[ASN][1000 genomes]
rs5030877	0.83[YRI][hapmap]
rs56409403	1.00[ASN][1000 genomes]
rs56981664	1.00[ASN][1000 genomes]
rs59142644	1.00[ASN][1000 genomes]
rs6472249	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472251	0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472254	0.83[YRI][hapmap];0.85[AFR][1000 genomes]
rs6472255	0.83[YRI][hapmap]
rs6472256	0.83[YRI][hapmap]
rs6988195	0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990624	0.83[YRI][hapmap]
rs6996265	0.83[YRI][hapmap]
rs6998761	0.82[YRI][hapmap];0.86[AFR][1000 genomes]
rs7008359	0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008578	0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7013524	0.82[YRI][hapmap]
rs73246516	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73246529	1.00[ASN][1000 genomes]
rs73246531	1.00[ASN][1000 genomes]
rs73246553	1.00[ASN][1000 genomes]
rs73691300	1.00[ASN][1000 genomes]
rs7818902	0.83[YRI][hapmap];0.86[AFR][1000 genomes]
rs7822243	0.82[YRI][hapmap];0.82[AFR][1000 genomes]
rs7826464	0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs7830926	0.91[AFR][1000 genomes]
rs7834423	0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835948	0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838500	0.83[YRI][hapmap];0.86[AFR][1000 genomes]
rs7842707	0.82[YRI][hapmap];0.82[AFR][1000 genomes]
rs7842761	0.82[YRI][hapmap];0.81[AFR][1000 genomes]
rs7843605	0.83[YRI][hapmap];0.86[AFR][1000 genomes]
rs7845334	0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9694082	0.82[YRI][hapmap];0.83[AFR][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:70 , 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	chr8:67032600-67038000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:67033200-67037200	Enhancers	GM12878-XiMat	blood
6	chr8:67033200-67037600	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr8:67033800-67039000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:67034600-67038800	Enhancers	Fetal Heart	heart
9	chr8:67035400-67037600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr8:67035400-67037600	Enhancers	HUVEC	blood vessel
11	chr8:67035400-67037800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:67035600-67037200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr8:67035800-67037600	Enhancers	Fetal Muscle Leg	muscle
14	chr8:67035800-67037800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:67035800-67037800	Enhancers	Placenta Amnion	Placenta Amnion
16	chr8:67036000-67037800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:67036200-67037200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:67036200-67037200	Flanking Active TSS	HepG2	liver
19	chr8:67036200-67037800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:67036400-67037200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:67036400-67037200	Flanking Active TSS	Liver	Liver
22	chr8:67036400-67037400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr8:67036400-67037400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr8:67036400-67037600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:67036400-67038200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:67036600-67037400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr8:67036600-67038200	Enhancers	HSMMtube	muscle
28	chr8:67036600-67039200	Weak transcription	Fetal Thymus	thymus
29	chr8:67036800-67037200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:67036800-67037200	Enhancers	Adipose Nuclei	Adipose
31	chr8:67036800-67037400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr8:67036800-67037400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:67036800-67037600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:67036800-67037600	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr8:67036800-67037600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:67036800-67037600	Enhancers	Hela-S3	cervix
37	chr8:67036800-67037600	Enhancers	Osteobl	bone
38	chr8:67036800-67037800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr8:67036800-67037800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:67036800-67038000	Enhancers	K562	blood
41	chr8:67036800-67038400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:67036800-67038800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr8:67036800-67038800	Weak transcription	Right Atrium	heart
44	chr8:67036800-67038800	Weak transcription	Right Ventricle	heart
45	chr8:67036800-67038800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr8:67036800-67038800	Enhancers	HSMM	muscle
47	chr8:67036800-67039000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:67036800-67039000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:67036800-67039000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr8:67036800-67039000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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