Variant report

Variant	rs72780643
Chromosome Location	chr10:45431360-45431361
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr10:45430603-45431664	HepG2	liver:	n/a	n/a
2	RFX5	chr10:45430997-45431383	HepG2	liver:	n/a	n/a
3	MYC	chr10:45431141-45431434	MCF10A-Er-Src	breast:	n/a	n/a
4	SPI1	chr10:45431250-45431774	HL-60	blood:	n/a	n/a
5	MAZ	chr10:45430978-45431395	HepG2	liver:	n/a	n/a
6	JUND	chr10:45431016-45431439	HepG2	liver:	n/a	n/a
7	FOS	chr10:45431153-45431413	MCF10A-Er-Src	breast:	n/a	n/a
8	JUN	chr10:45431156-45431433	HepG2	liver:	n/a	n/a
9	CEBPB	chr10:45431012-45431498	IMR90	lung:	n/a	n/a
10	CHD2	chr10:45431130-45431443	HepG2	liver:	n/a	n/a
11	MAX	chr10:45430940-45431552	SK-N-SH	brain:	n/a	n/a
12	CEBPB	chr10:45431057-45431502	HepG2	liver:	n/a	n/a
13	JUND	chr10:45431068-45431509	HepG2	liver:	n/a	n/a
14	POLR2A	chr10:45431144-45431794	HL-60	blood:	n/a	n/a
15	RAD21	chr10:45430995-45431386	IMR90	lung:	n/a	n/a
16	MAX	chr10:45430785-45431654	HepG2	liver:	n/a	n/a
17	RCOR1	chr10:45431066-45431384	HepG2	liver:	n/a	n/a
18	CEBPB	chr10:45431087-45431416	HepG2	liver:	n/a	n/a
19	STAT3	chr10:45431131-45431392	MCF10A-Er-Src	breast:	n/a	n/a
20	YY1	chr10:45430957-45431424	HepG2	liver:	n/a	n/a
21	EP300	chr10:45430974-45431421	HepG2	liver:	n/a	n/a
22	FOS	chr10:45431206-45431406	MCF10A-Er-Src	breast:	n/a	n/a
23	EP300	chr10:45430917-45431614	SK-N-SH	brain:	n/a	n/a
24	CEBPB	chr10:45430919-45431472	HepG2	liver:	n/a	n/a
25	MAFF	chr10:45431068-45431407	HepG2	liver:	n/a	n/a
26	HSF1	chr10:45430975-45431423	HepG2	liver:	n/a	chr10:45431234-45431249
27	TCF12	chr10:45430833-45431666	SK-N-SH	brain:	n/a	n/a
28	TEAD4	chr10:45430877-45431577	HepG2	liver:	n/a	n/a
29	MAFK	chr10:45431284-45431373	HepG2	liver:	n/a	n/a
30	REST	chr10:45431147-45431362	SK-N-SH	brain:	n/a	n/a
31	JUND	chr10:45431204-45431404	H1-hESC	embryonic stem cell:	n/a	n/a
32	EP300	chr10:45430930-45431439	HepG2	liver:	n/a	n/a
33	ARID3A	chr10:45431148-45431399	HepG2	liver:	n/a	n/a
34	MYC	chr10:45431134-45431415	MCF10A-Er-Src	breast:	n/a	n/a
35	ATF3	chr10:45431071-45431444	HepG2	liver:	n/a	n/a
36	MYC	chr10:45431031-45431434	HepG2	liver:	n/a	n/a
37	POLR2A	chr10:45431066-45431458	HepG2	liver:	n/a	n/a
38	STAT3	chr10:45431103-45431407	MCF10A-Er-Src	breast:	n/a	n/a
39	SMC3	chr10:45430984-45431364	HepG2	liver:	n/a	n/a
40	MAZ	chr10:45430587-45431545	IMR90	lung:	n/a	n/a
41	MXI1	chr10:45430946-45431453	HepG2	liver:	n/a	n/a
42	TCF12	chr10:45430862-45431638	SK-N-SH	brain:	n/a	n/a
43	MAX	chr10:45430929-45431579	SK-N-SH	brain:	n/a	n/a
44	TEAD4	chr10:45431091-45431408	HepG2	liver:	n/a	n/a
45	MYBL2	chr10:45430938-45431541	HepG2	liver:	n/a	n/a
46	STAT3	chr10:45431101-45431413	MCF10A-Er-Src	breast:	n/a	n/a
47	MAX	chr10:45430937-45431398	H1-hESC	embryonic stem cell:	n/a	n/a
48	MXI1	chr10:45430751-45431712	IMR90	lung:	n/a	n/a
49	TEAD4	chr10:45431011-45431614	SK-N-SH	brain:	n/a	n/a
50	SPI1	chr10:45431192-45431816	HL-60	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:45430664..45432254-chr10:45480745..45483576,2	MCF-7	breast:
2	chr10:45428885..45431662-chr10:45490818..45493446,2	K562	blood:
3	chr10:45426234..45427990-chr10:45429968..45432449,2	K562	blood:
4	chr10:45429768..45432549-chr10:45433306..45435637,3	MCF-7	breast:
5	chr10:45428329..45431725-chr10:45453082..45455678,3	MCF-7	breast:
6	chr10:45430656..45433137-chr10:45453264..45455350,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223462	TF binding region
ENSG00000224812	Chromatin interaction
ENSG00000107551	Chromatin interaction
ENSG00000273363	Chromatin interaction
ENSG00000187783	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11593043	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11596745	0.97[ASN][1000 genomes]
rs11597898	0.95[ASN][1000 genomes]
rs2297493	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2297494	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3740088	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3740089	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61854007	0.95[ASN][1000 genomes]
rs61854008	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7078924	0.97[ASN][1000 genomes]
rs72780645	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv831845	chr10:45300268-45460395	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv466909	chr10:45408011-45446791	Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv550714	chr10:45408011-45446791	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45417000-45434000	Weak transcription	Fetal Brain Female	brain
2	chr10:45427600-45433600	Enhancers	Fetal Muscle Leg	muscle
3	chr10:45427800-45432200	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr10:45427800-45432200	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr10:45427800-45432400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:45427800-45432400	Enhancers	Right Ventricle	heart
7	chr10:45427800-45432800	Enhancers	HSMMtube	muscle
8	chr10:45427800-45433200	Enhancers	Adipose Nuclei	Adipose
9	chr10:45427800-45433200	Enhancers	Pancreas	Pancrea
10	chr10:45428000-45432000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr10:45428000-45432400	Enhancers	Brain Anterior Caudate	brain
12	chr10:45428000-45432600	Enhancers	Brain Cingulate Gyrus	brain
13	chr10:45428000-45432800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr10:45428000-45433000	Enhancers	Fetal Thymus	thymus
15	chr10:45428000-45433200	Enhancers	Fetal Heart	heart
16	chr10:45428000-45433400	Enhancers	Placenta	Placenta
17	chr10:45428000-45436600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr10:45428200-45432200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr10:45428400-45431600	Enhancers	Left Ventricle	heart
20	chr10:45428400-45436800	Enhancers	HepG2	liver
21	chr10:45428600-45432000	Enhancers	Stomach Smooth Muscle	stomach
22	chr10:45428800-45433000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr10:45428800-45435400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr10:45429000-45432600	Enhancers	Right Atrium	heart
25	chr10:45429200-45432400	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr10:45429200-45432600	Enhancers	Fetal Muscle Trunk	muscle
27	chr10:45429800-45432000	Enhancers	NHDF-Ad	bronchial
28	chr10:45429800-45432200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr10:45429800-45433200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr10:45430000-45432400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr10:45430000-45433400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr10:45430200-45432200	Enhancers	Spleen	Spleen
33	chr10:45430200-45432400	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr10:45430200-45432600	Enhancers	HSMM	muscle
35	chr10:45430400-45431800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr10:45430400-45432000	Enhancers	Lung	lung
37	chr10:45430400-45432600	Enhancers	Primary hematopoietic stem cells	blood
38	chr10:45430600-45431400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr10:45430600-45431400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr10:45430600-45431600	Enhancers	Colonic Mucosa	Colon
41	chr10:45430600-45431800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr10:45430600-45431800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr10:45430600-45431800	Enhancers	NH-A	brain
44	chr10:45430600-45431800	Enhancers	NHEK	skin
45	chr10:45430600-45431800	Enhancers	Osteobl	bone
46	chr10:45430600-45432000	Enhancers	HMEC	breast
47	chr10:45430600-45432200	Enhancers	Primary T cells from cord blood	blood
48	chr10:45430600-45432200	Enhancers	Brain Angular Gyrus	brain
49	chr10:45430600-45432200	Enhancers	Rectal Smooth Muscle	rectum
50	chr10:45430600-45432200	Enhancers	GM12878-XiMat	blood

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