Variant report

Variant	rs1450275
Chromosome Location	chr11:10347507-10347508
allele	A/C
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	USF1	chr11:10347181-10347586	SK-N-SH_RA	brain:	n/a	n/a
2	GATA2	chr11:10347098-10347517	HUVEC	blood vessel:	n/a	n/a
3	MEF2A	chr11:10346941-10347596	SK-N-SH	brain:	n/a	chr11:10347212-10347223 chr11:10347205-10347226 chr11:10347210-10347224 chr11:10347210-10347225
4	TCF12	chr11:10346908-10347682	ECC-1	luminal epithelium:	n/a	n/a
5	JUN	chr11:10347047-10347510	HUVEC	blood vessel:	n/a	chr11:10347227-10347235 chr11:10347229-10347239 chr11:10347229-10347238 chr11:10347230-10347239
6	USF2	chr11:10347238-10347660	Hela-S3	cervix:	n/a	chr11:10347479-10347490
7	GATA3	chr11:10346833-10347609	SK-N-SH	brain:	n/a	n/a
8	MAX	chr11:10347038-10347656	ECC-1	luminal epithelium:	n/a	chr11:10347347-10347354
9	EP300	chr11:10346816-10347568	SK-N-SH	brain:	n/a	n/a
10	MAX	chr11:10347126-10347613	ECC-1	luminal epithelium:	n/a	chr11:10347347-10347354
11	FOSL2	chr11:10346888-10347602	SK-N-SH	brain:	n/a	chr11:10347227-10347235 chr11:10347229-10347239 chr11:10347229-10347238 chr11:10347230-10347239
12	RXRA	chr11:10346818-10347631	SK-N-SH	brain:	n/a	n/a
13	HEY1	chr11:10347482-10348391	HepG2	liver:	n/a	n/a
14	CTCF	chr11:10347500-10347650	NHDF-neo	bronchial:	n/a	n/a
15	FOS	chr11:10347071-10347554	HUVEC	blood vessel:	n/a	chr11:10347227-10347235 chr11:10347228-10347239 chr11:10347229-10347239 chr11:10347229-10347238 chr11:10347230-10347239
16	TCF7L2	chr11:10347300-10348283	Hela-S3	cervix:	n/a	chr11:10348015-10348022
17	MAFK	chr11:10347086-10347607	IMR90	lung:	n/a	n/a
18	MAX	chr11:10346894-10347574	SK-N-SH	brain:	n/a	chr11:10347347-10347354
19	TCF12	chr11:10346715-10347678	SK-N-SH	brain:	n/a	n/a
20	SMC3	chr11:10347022-10348181	Hela-S3	cervix:	n/a	n/a
21	MXI1	chr11:10347122-10347725	Hela-S3	cervix:	n/a	n/a
22	TCF12	chr11:10347316-10349347	A549	lung:	n/a	chr11:10348090-10348100
23	USF1	chr11:10347120-10347698	ECC-1	luminal epithelium:	n/a	n/a
24	EP300	chr11:10346867-10347533	SK-N-SH_RA	brain:	n/a	n/a
25	GATA3	chr11:10346807-10347709	SK-N-SH	brain:	n/a	n/a
26	TCF12	chr11:10346850-10347571	SK-N-SH	brain:	n/a	n/a
27	CEBPB	chr11:10346949-10348247	Hela-S3	cervix:	n/a	chr11:10347739-10347752
28	SP1	chr11:10347479-10348554	HepG2	liver:	n/a	chr11:10348029-10348043
29	TCF12	chr11:10347002-10347583	ECC-1	luminal epithelium:	n/a	n/a
30	CEBPB	chr11:10346987-10347653	IMR90	lung:	n/a	n/a
31	EP300	chr11:10346880-10347650	ECC-1	luminal epithelium:	n/a	n/a
32	EP300	chr11:10347488-10348496	HepG2	liver:	n/a	chr11:10347891-10347905
33	MXI1	chr11:10346543-10347835	IMR90	lung:	n/a	n/a
34	RAD21	chr11:10347216-10347510	SK-N-SH_RA	brain:	n/a	n/a
35	PBX3	chr11:10346824-10347627	SK-N-SH	brain:	n/a	n/a
36	PBX3	chr11:10346854-10347627	SK-N-SH	brain:	n/a	n/a
37	USF1	chr11:10347238-10347601	SK-N-SH_RA	brain:	n/a	n/a
38	MAX	chr11:10347175-10347569	Hela-S3	cervix:	n/a	chr11:10347347-10347354

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10324085..10326015-chr11:10346392..10348165,2	MCF-7	breast:

Variant related genes	Relation type
AMPD3	TF binding region
ENSG00000254554	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs1372810	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450265	0.90[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450266	0.90[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450268	0.90[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450276	1.00[ASW][hapmap];0.81[CEU][hapmap];0.87[GIH][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470686	0.97[EUR][1000 genomes]
rs1597450	0.90[EUR][1000 genomes]
rs16907654	1.00[ASW][hapmap];0.90[CEU][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17292774	0.89[CEU][hapmap];1.00[ASN][1000 genomes]
rs17294609	0.90[CEU][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17294693	1.00[ASW][hapmap];0.90[CEU][hapmap];0.93[LWK][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17295786	0.90[CEU][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17296211	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17296765	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17358721	0.90[CEU][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17358882	0.90[CEU][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17359382	0.90[CEU][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17360118	0.90[CEU][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2044781	0.92[EUR][1000 genomes]
rs28733206	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2920149	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2957657	0.90[CEU][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2957686	0.97[EUR][1000 genomes]
rs4077089	0.89[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4403799	0.87[EUR][1000 genomes]
rs61877264	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61878654	1.00[ASN][1000 genomes]
rs61878655	1.00[ASN][1000 genomes]
rs61878657	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61878658	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61878659	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61880160	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61889783	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889785	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889795	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889796	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889802	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889815	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889816	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889817	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889836	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889840	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889842	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889843	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889845	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889846	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889847	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889956	0.86[AMR][1000 genomes]
rs61889957	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61891762	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891764	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891767	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891768	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891770	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891771	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61891773	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891775	0.97[EUR][1000 genomes]
rs61891776	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891793	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892569	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61892570	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61892572	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61892573	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61892575	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61892593	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61892594	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61892595	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892596	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892597	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6484142	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7103637	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104591	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7105355	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7107373	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7108385	0.90[CEU][hapmap];1.00[MEX][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109096	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111544	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7111647	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7120043	1.00[ASN][1000 genomes]
rs7122370	1.00[ASN][1000 genomes]
rs7123541	0.90[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7125823	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129220	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72850458	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851648	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851670	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851674	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72861738	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72861762	1.00[ASN][1000 genomes]
rs72861767	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72861799	1.00[ASN][1000 genomes]
rs7929332	1.00[ASW][hapmap];0.90[CEU][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7930218	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7933724	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7935257	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939531	1.00[ASN][1000 genomes]
rs7941320	0.92[EUR][1000 genomes]
rs7941557	0.98[EUR][1000 genomes]
rs7945990	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947210	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949974	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs896043	1.00[ASW][hapmap];0.90[CEU][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9705133	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10339600-10348800	Weak transcription	Brain Hippocampus Middle	brain
2	chr11:10340400-10350000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr11:10340800-10348400	Enhancers	Fetal Stomach	stomach
4	chr11:10341200-10348600	Enhancers	Rectal Smooth Muscle	rectum
5	chr11:10342800-10351600	Enhancers	Adipose Nuclei	Adipose
6	chr11:10343200-10351000	Enhancers	Stomach Mucosa	stomach
7	chr11:10343400-10347800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:10343400-10353400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:10343800-10350200	Enhancers	NHLF	lung
10	chr11:10344000-10347600	Enhancers	Fetal Lung	lung
11	chr11:10344000-10349600	Enhancers	HUVEC	blood vessel
12	chr11:10344000-10351600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr11:10344000-10353200	Enhancers	NH-A	brain
14	chr11:10344000-10353400	Enhancers	Osteobl	bone
15	chr11:10344400-10348400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:10344400-10349000	Enhancers	Aorta	Aorta
17	chr11:10344400-10351600	Enhancers	Ovary	ovary
18	chr11:10344600-10347800	Weak transcription	Brain Anterior Caudate	brain
19	chr11:10344600-10347800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr11:10344600-10348000	Weak transcription	Psoas Muscle	Psoas
21	chr11:10344600-10349800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:10344600-10350000	Weak transcription	HMEC	breast
23	chr11:10344600-10350200	Weak transcription	Brain Substantia Nigra	brain
24	chr11:10344600-10351000	Enhancers	Colon Smooth Muscle	Colon
25	chr11:10344600-10353200	Enhancers	Hela-S3	cervix
26	chr11:10344600-10353800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:10344800-10347800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr11:10344800-10347800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:10344800-10348000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:10344800-10348000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr11:10344800-10349800	Weak transcription	Fetal Heart	heart
32	chr11:10344800-10350000	Weak transcription	NHEK	skin
33	chr11:10345000-10347600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr11:10345000-10347800	Weak transcription	Colonic Mucosa	Colon
35	chr11:10345000-10348000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr11:10345000-10348400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr11:10345200-10348000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr11:10345200-10350000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:10345600-10347800	Weak transcription	Placenta	Placenta
40	chr11:10345600-10349600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr11:10345600-10354000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:10345800-10347600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr11:10345800-10347800	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr11:10345800-10349800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:10346000-10347800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr11:10346000-10347800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr11:10346000-10348000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr11:10346000-10349000	Enhancers	Stomach Smooth Muscle	stomach
49	chr11:10346000-10349800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr11:10346000-10350000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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