Variant report

Variant	rs11582172
Chromosome Location	chr1:56986106-56986107
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	FOS	chr1:56985965-56986136	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
PPAP2B	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10443239	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10493211	1.00[JPT][hapmap]
rs10789026	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10888978	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11206831	1.00[JPT][hapmap]
rs11206832	1.00[JPT][hapmap]
rs11206834	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11206835	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11206838	1.00[JPT][hapmap]
rs11576602	1.00[JPT][hapmap]
rs12134109	1.00[JPT][hapmap]
rs12137700	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12402226	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12406517	1.00[JPT][hapmap]
rs1572057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2404717	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3738570	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3927762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7528118	1.00[JPT][hapmap]
rs7551402	1.00[JPT][hapmap]
rs8016	1.00[JPT][hapmap]
rs869934	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56967000-57002000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:56971400-56986200	Genic enhancers	Placenta	Placenta
3	chr1:56972400-56990800	Strong transcription	HSMM	muscle
4	chr1:56976400-56991600	Strong transcription	Fetal Stomach	stomach
5	chr1:56976800-56992400	Weak transcription	Brain Germinal Matrix	brain
6	chr1:56977200-56987200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:56977200-56990600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:56977800-56989200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:56977800-56991200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:56977800-56999200	Weak transcription	A549	lung
11	chr1:56978000-56987200	Weak transcription	Thymus	Thymus
12	chr1:56978000-56987600	Weak transcription	Dnd41	blood
13	chr1:56978000-56987800	Strong transcription	Fetal Muscle Trunk	muscle
14	chr1:56978000-56989200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:56978000-56991400	Weak transcription	Fetal Brain Male	brain
16	chr1:56978000-56992600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:56979200-56992600	Strong transcription	HepG2	liver
18	chr1:56979800-56986200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:56980400-56986200	Genic enhancers	NHDF-Ad	bronchial
20	chr1:56980600-56986200	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr1:56980600-56991600	Genic enhancers	Left Ventricle	heart
22	chr1:56981000-56987200	Weak transcription	HSMMtube	muscle
23	chr1:56981400-56986200	Strong transcription	Ovary	ovary
24	chr1:56982000-56986400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:56982000-56989400	Weak transcription	Gastric	stomach
26	chr1:56982200-56987000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:56982200-56987800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:56982400-56986400	Strong transcription	Fetal Lung	lung
29	chr1:56982400-56989400	Weak transcription	Esophagus	oesophagus
30	chr1:56982800-56986800	Weak transcription	Fetal Heart	heart
31	chr1:56982800-56987800	Weak transcription	Brain Angular Gyrus	brain
32	chr1:56982800-56987800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr1:56983000-56986600	Strong transcription	Fetal Thymus	thymus
34	chr1:56983000-56987800	Weak transcription	HUVEC	blood vessel
35	chr1:56983000-56988200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:56983000-56988400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr1:56983000-56990000	Strong transcription	Fetal Muscle Leg	muscle
38	chr1:56983200-56987200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr1:56983200-56989400	Weak transcription	Primary B cells from cord blood	blood
40	chr1:56983200-56991200	Strong transcription	Stomach Smooth Muscle	stomach
41	chr1:56983200-56991400	Strong transcription	Osteobl	bone
42	chr1:56983200-56992400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:56983400-56987800	Weak transcription	Brain Anterior Caudate	brain
44	chr1:56983400-56992200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:56983400-57000800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr1:56983600-56987200	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr1:56983600-56988400	Weak transcription	Stomach Mucosa	stomach
48	chr1:56983600-56991200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:56983800-56987400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr1:56983800-56987400	Weak transcription	Rectal Mucosa Donor 31	rectum

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