Variant report

Variant	rs56043323
Chromosome Location	chr10:44793355-44793356
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	chr10:44793344-44793773	H1-hESC	embryonic stem cell:	n/a	chr10:44793506-44793518
2	JUN	chr10:44793209-44793409	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr10:44793208-44793477	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:44790196..44793217-chr10:44793221..44795884,3	MCF-7	breast:
2	chr10:44790481..44792534-chr10:44792786..44795587,2	MCF-7	breast:
3	chr10:44776762..44778812-chr10:44792922..44795604,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229116	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11238978	0.81[EUR][1000 genomes]
rs11594522	0.84[AMR][1000 genomes]
rs11597208	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs11598523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12570720	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12572910	0.84[AMR][1000 genomes]
rs12573610	0.84[AMR][1000 genomes]
rs1436926	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1436927	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1657342	0.80[ASN][1000 genomes]
rs17389211	0.84[AMR][1000 genomes]
rs1746054	0.80[ASN][1000 genomes]
rs17480411	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs17480530	0.84[AMR][1000 genomes]
rs17657853	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs17659345	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2224769	0.84[AMR][1000 genomes]
rs3865770	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs55769846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56284808	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs56366664	0.81[AMR][1000 genomes]
rs58173335	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs58189594	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593403	0.81[AMR][1000 genomes]
rs7083765	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7086461	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7099154	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7099184	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72788727	0.84[AMR][1000 genomes]
rs72788733	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs72788749	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs72788751	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs72788758	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs72788791	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7894238	0.84[AMR][1000 genomes]
rs7895640	0.84[AMR][1000 genomes]
rs7899802	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs800321	0.80[ASN][1000 genomes]
rs800322	0.80[ASN][1000 genomes]
rs800323	0.80[ASN][1000 genomes]
rs800325	0.80[ASN][1000 genomes]
rs800326	0.80[ASN][1000 genomes]
rs811649	0.80[ASN][1000 genomes]
rs9787462	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9787518	0.81[AFR][1000 genomes];0.84[AMR][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	nsv1038511	chr10:44596885-44870030	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv508579	chr10:44709770-44799256	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44789200-44796600	Weak transcription	Fetal Brain Female	brain
2	chr10:44790600-44796600	Weak transcription	Aorta	Aorta
3	chr10:44791000-44795400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:44791200-44794400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr10:44791200-44795200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr10:44791200-44795400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr10:44791200-44796000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr10:44791200-44796000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr10:44791200-44796600	Weak transcription	Left Ventricle	heart
10	chr10:44791200-44796800	Weak transcription	Gastric	stomach
11	chr10:44791200-44805400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:44791400-44794600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr10:44791400-44795600	Weak transcription	NHLF	lung
14	chr10:44791400-44795800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr10:44791400-44796000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr10:44791400-44796000	Weak transcription	GM12878-XiMat	blood
17	chr10:44791400-44796200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr10:44791400-44796200	Weak transcription	Brain Anterior Caudate	brain
19	chr10:44791400-44796200	Weak transcription	Brain Substantia Nigra	brain
20	chr10:44791400-44796400	Weak transcription	Brain Hippocampus Middle	brain
21	chr10:44791600-44793800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr10:44791600-44794200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr10:44791600-44795200	Weak transcription	Brain Germinal Matrix	brain
24	chr10:44791600-44795400	Weak transcription	NHDF-Ad	bronchial
25	chr10:44791600-44795600	Weak transcription	Osteobl	bone
26	chr10:44791600-44796000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr10:44791600-44796000	Weak transcription	NH-A	brain
28	chr10:44791600-44796200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr10:44791600-44796200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr10:44791600-44796800	Weak transcription	Right Ventricle	heart
31	chr10:44792200-44796600	Weak transcription	Brain Angular Gyrus	brain
32	chr10:44792400-44794400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr10:44792400-44796000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr10:44792600-44793800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr10:44792800-44794400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr10:44793000-44793400	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr10:44793000-44793600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr10:44793200-44793400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr10:44793200-44793400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr10:44793200-44793600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr10:44793200-44793600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr10:44793200-44793600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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