Variant report

Variant	rs561615397
Chromosome Location	chr10:112580423-112580424
allele	-/A
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	RAD21	chr10:112580175-112580582	SK-N-SH_RA	brain:	n/a	n/a
2	EP300	chr10:112580002-112580649	SK-N-SH_RA	brain:	n/a	n/a
3	MXI1	chr10:112579629-112580825	SK-N-SH	brain:	n/a	n/a
4	RAD21	chr10:112580088-112580657	SK-N-SH_RA	brain:	n/a	n/a
5	EP300	chr10:112580014-112580632	SK-N-SH_RA	brain:	n/a	n/a
6	NFIC	chr10:112579853-112580781	SK-N-SH	brain:	n/a	n/a
7	PBX3	chr10:112579915-112580612	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr10:112580141-112580530	SK-N-SH	brain:	n/a	n/a
9	GATA2	chr10:112579934-112580680	SH-SY5Y	brain:	n/a	chr10:112579973-112579982
10	TCF12	chr10:112579882-112580801	SK-N-SH	brain:	n/a	chr10:112580097-112580105

No.	Distal block	Cell Line	Cell type
1	chr10:112562895..112564656-chr10:112578685..112581369,2	K562	blood:
2	chr10:112562895..112565323-chr10:112578777..112581369,2	K562	blood:
3	chr10:112580361..112582375-chr10:112638543..112641379,2	MCF-7	breast:
4	chr10:112579419..112581371-chr10:112586517..112588214,2	K562	blood:
5	chr10:112579505..112583802-chr10:112587400..112591373,5	MCF-7	breast:

Variant related genes	Relation type
RBM20	TF binding region
ENSG00000203867	Chromatin interaction
ENSG00000150593	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045608	chr10:112524813-112677557	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1041758	chr10:112552897-112677557	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv467455	chr10:112579299-112612471	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv552172	chr10:112579299-112612471	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv896003	chr10:112579299-112631211	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv896002	chr10:112579299-112638028	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1051566	chr10:112580049-112730573	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 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	chr10:112564000-112581600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr10:112572600-112593800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:112572800-112581400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:112572800-112582200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr10:112573400-112580800	Weak transcription	K562	blood
6	chr10:112575200-112582400	Enhancers	Esophagus	oesophagus
7	chr10:112575400-112581400	Enhancers	Fetal Muscle Leg	muscle
8	chr10:112575800-112583600	Enhancers	Right Atrium	heart
9	chr10:112576200-112583200	Enhancers	Pancreas	Pancrea
10	chr10:112576600-112580600	Enhancers	Stomach Mucosa	stomach
11	chr10:112576800-112580600	Enhancers	Rectal Smooth Muscle	rectum
12	chr10:112576800-112584800	Enhancers	Psoas Muscle	Psoas
13	chr10:112577200-112590800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr10:112577400-112580600	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr10:112577400-112581000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr10:112577400-112584800	Enhancers	Fetal Stomach	stomach
17	chr10:112577600-112583000	Enhancers	Adipose Nuclei	Adipose
18	chr10:112577800-112582400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr10:112577800-112582400	Enhancers	Right Ventricle	heart
20	chr10:112577800-112593400	Weak transcription	Thymus	Thymus
21	chr10:112578000-112580600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr10:112578000-112583800	Enhancers	Fetal Brain Male	brain
23	chr10:112578200-112581000	Enhancers	HSMMtube	muscle
24	chr10:112578200-112582200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr10:112578200-112582600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr10:112578200-112582600	Weak transcription	Primary B cells from cord blood	blood
27	chr10:112578200-112583000	Enhancers	Ovary	ovary
28	chr10:112578200-112584800	Enhancers	Placenta	Placenta
29	chr10:112578200-112585400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr10:112578400-112583200	Enhancers	Aorta	Aorta
31	chr10:112578400-112583200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr10:112578600-112583400	Enhancers	Fetal Lung	lung
33	chr10:112578600-112584800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr10:112578800-112587400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr10:112578800-112592400	Weak transcription	Primary T cells from cord blood	blood
36	chr10:112579000-112581600	Weak transcription	Fetal Intestine Small	intestine
37	chr10:112579000-112582200	Weak transcription	GM12878-XiMat	blood
38	chr10:112579200-112580600	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr10:112579200-112583600	Enhancers	Brain Angular Gyrus	brain
40	chr10:112579400-112580800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr10:112579400-112580800	Enhancers	Fetal Heart	heart
42	chr10:112579400-112581200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr10:112579400-112581400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr10:112579400-112582600	Enhancers	Left Ventricle	heart
45	chr10:112579400-112586000	Enhancers	Brain Germinal Matrix	brain
46	chr10:112579600-112580600	Enhancers	Fetal Thymus	thymus
47	chr10:112579600-112580800	Weak transcription	Fetal Intestine Large	intestine
48	chr10:112579600-112581000	Enhancers	Brain Anterior Caudate	brain
49	chr10:112579600-112581000	Enhancers	Brain Hippocampus Middle	brain
50	chr10:112579600-112582200	Enhancers	NHDF-Ad	bronchial

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