Variant report

Variant	rs73266655
Chromosome Location	chr10:43132541-43132542
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	POLR2A	chr10:43132448-43135369	MCF10A-Er-Src	breast:	n/a	n/a
2	FOXA2	chr10:43132536-43132869	HepG2	liver:	n/a	n/a
3	FOXA1	chr10:43132475-43133002	HepG2	liver:	n/a	n/a
4	IRF1	chr10:43132452-43134697	K562	blood:	n/a	chr10:43134329-43134343 chr10:43134475-43134489 chr10:43134327-43134341 chr10:43134330-43134343 chr10:43134479-43134489 chr10:43134330-43134344 chr10:43134328-43134342 chr10:43134325-43134342 chr10:43132867-43132883 chr10:43134330-43134343 chr10:43133503-43133516 chr10:43134471-43134491 chr10:43134329-43134340

No.	Distal block	Cell Line	Cell type
1	chr10:43100572..43103779-chr10:43131525..43135101,4	MCF-7	breast:
2	chr10:43132257..43135644-chr10:43275563..43280155,11	MCF-7	breast:
3	chr10:43046145..43048386-chr10:43132522..43135382,4	MCF-7	breast:
4	chr10:43126488..43130043-chr10:43132001..43133906,3	MCF-7	breast:
5	chr10:43124209..43130093-chr10:43131977..43134761,6	K562	blood:
6	chr10:43125083..43130093-chr10:43132029..43136060,7	K562	blood:
7	chr10:43132020..43136600-chr10:43277441..43279853,5	MCF-7	breast:
8	chr10:43043951..43049889-chr10:43132519..43135803,5	K562	blood:

Variant related genes	Relation type
ENSG00000272373	TF binding region
ENSG00000251783	Chromatin interaction
ENSG00000165733	Chromatin interaction
ENSG00000234420	Chromatin interaction
ENSG00000272373	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs57232152	1.00[AMR][1000 genomes]
rs58433458	1.00[AMR][1000 genomes]
rs59303672	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59868843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59903337	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59911416	1.00[AMR][1000 genomes]
rs60209072	1.00[AMR][1000 genomes]
rs73251008	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73251037	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73251045	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73251053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73266662	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73266686	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74135599	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817455	chr10:42607635-43151812	Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv550672	chr10:42753190-43441729	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv895064	chr10:42783481-43243325	Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv533331	chr10:42830221-43356410	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1042764	chr10:42846383-43511712	Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv1050394	chr10:42890663-43604956	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv540573	chr10:42890663-43604956	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
9	nsv469725	chr10:42965130-43178323	Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv482513	chr10:42965130-43178323	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	esv2758216	chr10:42965131-43510191	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
12	esv2759746	chr10:42965131-43510191	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
13	nsv975036	chr10:43090222-43132879	ZNF genes & repeats Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	esv2757381	chr10:43104068-43352995	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
15	esv34929	chr10:43116194-43329770	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43089800-43133000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr10:43089800-43133000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr10:43089800-43133000	Weak transcription	Right Ventricle	heart
4	chr10:43090800-43133000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr10:43091200-43132800	Weak transcription	Colon Smooth Muscle	Colon
6	chr10:43091400-43132800	Weak transcription	Colonic Mucosa	Colon
7	chr10:43094400-43133200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:43101000-43133000	Weak transcription	NH-A	brain
9	chr10:43106200-43132600	Weak transcription	Fetal Heart	heart
10	chr10:43107000-43133000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr10:43108000-43133200	Weak transcription	Psoas Muscle	Psoas
12	chr10:43109000-43133200	Weak transcription	Aorta	Aorta
13	chr10:43111200-43133000	Weak transcription	Brain Hippocampus Middle	brain
14	chr10:43111600-43132800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr10:43117600-43133000	Weak transcription	Brain Angular Gyrus	brain
16	chr10:43118200-43133000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr10:43118200-43133000	Weak transcription	HSMM	muscle
18	chr10:43118200-43133000	Weak transcription	NHLF	lung
19	chr10:43119600-43133200	Weak transcription	Gastric	stomach
20	chr10:43119800-43133000	Weak transcription	Brain Anterior Caudate	brain
21	chr10:43119800-43133000	Weak transcription	Brain Substantia Nigra	brain
22	chr10:43119800-43133000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr10:43119800-43133000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr10:43119800-43133200	Weak transcription	Spleen	Spleen
25	chr10:43120000-43133000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr10:43120200-43133000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr10:43121800-43133000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:43124800-43133000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr10:43125200-43133000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr10:43125200-43133200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr10:43125800-43133000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr10:43126400-43132800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr10:43126600-43133000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr10:43126600-43133000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr10:43126600-43133000	Weak transcription	Ovary	ovary
36	chr10:43127200-43132800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr10:43127200-43133000	Weak transcription	Placenta	Placenta
38	chr10:43127600-43132600	Weak transcription	A549	lung
39	chr10:43127600-43133000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr10:43127600-43133000	Weak transcription	Esophagus	oesophagus
41	chr10:43127600-43133000	Weak transcription	Fetal Muscle Leg	muscle
42	chr10:43127600-43133200	Weak transcription	Left Ventricle	heart
43	chr10:43127600-43133200	Weak transcription	Lung	lung
44	chr10:43127800-43132600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr10:43127800-43132800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr10:43127800-43133000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr10:43127800-43133000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr10:43127800-43133000	Weak transcription	Adipose Nuclei	Adipose
49	chr10:43127800-43133000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr10:43127800-43133200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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