Variant report

Variant	rs11598523
Chromosome Location	chr10:44791433-44791434
allele	A/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	EP300	chr10:44791201-44791526	GM12878	blood:	n/a	n/a
2	RUNX3	chr10:44791011-44791435	GM12878	blood:	n/a	chr10:44791218-44791233 chr10:44791199-44791214
3	PAX5	chr10:44790918-44791451	GM12878	blood:	n/a	chr10:44791411-44791420
4	EP300	chr10:44791130-44791519	GM12878	blood:	n/a	n/a
5	RUNX3	chr10:44790953-44791457	GM12878	blood:	n/a	chr10:44791218-44791233 chr10:44791199-44791214
6	BHLHE40	chr10:44791083-44791469	GM12878	blood:	n/a	n/a
7	EP300	chr10:44791113-44791554	GM12878	blood:	n/a	n/a
8	CHD2	chr10:44791241-44791467	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:44790196..44793217-chr10:44793221..44795884,3	MCF-7	breast:
2	chr10:44790586..44792742-chr10:44798450..44801246,2	K562	blood:
3	chr10:44755013..44756692-chr10:44790155..44792136,2	MCF-7	breast:
4	chr10:44790481..44792534-chr10:44792786..44795587,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229116	TF binding region

Extended variants
information (count: 49 )
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]
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	1.00[JPT][hapmap];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];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56043323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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];1.00[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];0.83[EUR][1000 genomes]
rs7086461	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7099154	1.00[JPT][hapmap];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];0.99[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	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs800325	0.80[ASN][1000 genomes]
rs800326	1.00[JPT][hapmap];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:4 , 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
3	esv3422728	chr10:44788646-44792944	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3352463	chr10:44789446-44792444	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr10:44787800-44791600	Enhancers	Ovary	ovary
2	chr10:44788600-44791600	Enhancers	NHDF-Ad	bronchial
3	chr10:44789000-44791600	Enhancers	Right Ventricle	heart
4	chr10:44789200-44796600	Weak transcription	Fetal Brain Female	brain
5	chr10:44789400-44791600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr10:44790200-44791600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr10:44790200-44791600	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr10:44790200-44791600	Enhancers	Osteobl	bone
9	chr10:44790400-44791600	Enhancers	H9 Cell Line	embryonic stem cell
10	chr10:44790600-44791600	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr10:44790600-44792200	Enhancers	Brain Angular Gyrus	brain
12	chr10:44790600-44796600	Weak transcription	Aorta	Aorta
13	chr10:44790800-44791600	Enhancers	NH-A	brain
14	chr10:44791000-44791600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr10:44791000-44791800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr10:44791000-44793200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr10:44791000-44795400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:44791200-44791600	Enhancers	Brain Germinal Matrix	brain
19	chr10:44791200-44793000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr10:44791200-44793200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr10:44791200-44793200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr10:44791200-44794400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr10:44791200-44795200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr10:44791200-44795400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr10:44791200-44796000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr10:44791200-44796000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr10:44791200-44796600	Weak transcription	Left Ventricle	heart
28	chr10:44791200-44796800	Weak transcription	Gastric	stomach
29	chr10:44791200-44805400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr10:44791400-44791600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr10:44791400-44791600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr10:44791400-44791600	Enhancers	Stomach Smooth Muscle	stomach
33	chr10:44791400-44792800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr10:44791400-44794600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr10:44791400-44795600	Weak transcription	NHLF	lung
36	chr10:44791400-44795800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr10:44791400-44796000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr10:44791400-44796000	Weak transcription	GM12878-XiMat	blood
39	chr10:44791400-44796200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr10:44791400-44796200	Weak transcription	Brain Anterior Caudate	brain
41	chr10:44791400-44796200	Weak transcription	Brain Substantia Nigra	brain
42	chr10:44791400-44796400	Weak transcription	Brain Hippocampus Middle	brain

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