Variant report

Variant	rs577745172
Chromosome Location	chr10:112579717-112579718
allele	-/CTGTATGTGAAAC
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr10:112579715-112579920	K562	blood:	n/a	n/a
2	MXI1	chr10:112579629-112580825	SK-N-SH	brain:	n/a	n/a
3	ZNF143	chr10:112579539-112579728	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

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	chr10:112578333..112580115-chr10:112582866..112584934,2	MCF-7	breast:
4	chr10:112579419..112581371-chr10:112586517..112588214,2	K562	blood:
5	chr10:112579505..112583802-chr10:112587400..112591373,5	MCF-7	breast:
6	chr10:112578495..112580348-chr10:112581848..112584366,2	K562	blood:
7	chr10:112578050..112579820-chr10:112631162..112632921,2	MCF-7	breast:

No data

Variant related genes	Relation type
RBM20	TF binding region
ENSG00000203497	Chromatin interaction
ENSG00000150593	Chromatin interaction
ENSG00000203867	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:75 , 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	chr10:112575000-112579800	Enhancers	Stomach Smooth Muscle	stomach
7	chr10:112575200-112582400	Enhancers	Esophagus	oesophagus
8	chr10:112575400-112581400	Enhancers	Fetal Muscle Leg	muscle
9	chr10:112575800-112583600	Enhancers	Right Atrium	heart
10	chr10:112576000-112579800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr10:112576000-112580000	Weak transcription	Lung	lung
12	chr10:112576200-112583200	Enhancers	Pancreas	Pancrea
13	chr10:112576600-112580600	Enhancers	Stomach Mucosa	stomach
14	chr10:112576800-112580600	Enhancers	Rectal Smooth Muscle	rectum
15	chr10:112576800-112584800	Enhancers	Psoas Muscle	Psoas
16	chr10:112577000-112579800	Weak transcription	Spleen	Spleen
17	chr10:112577200-112590800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr10:112577400-112580400	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr10:112577400-112580600	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr10:112577400-112581000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr10:112577400-112584800	Enhancers	Fetal Stomach	stomach
22	chr10:112577600-112579800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr10:112577600-112580000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr10:112577600-112583000	Enhancers	Adipose Nuclei	Adipose
25	chr10:112577800-112582400	Weak transcription	Primary B cells from peripheral blood	blood
26	chr10:112577800-112582400	Enhancers	Right Ventricle	heart
27	chr10:112577800-112593400	Weak transcription	Thymus	Thymus
28	chr10:112578000-112580400	Enhancers	Colonic Mucosa	Colon
29	chr10:112578000-112580400	Enhancers	Duodenum Mucosa	Duodenum
30	chr10:112578000-112580600	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr10:112578000-112583800	Enhancers	Fetal Brain Male	brain
32	chr10:112578200-112579800	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr10:112578200-112580400	Enhancers	Liver	Liver
34	chr10:112578200-112581000	Enhancers	HSMMtube	muscle
35	chr10:112578200-112582200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr10:112578200-112582600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr10:112578200-112582600	Weak transcription	Primary B cells from cord blood	blood
38	chr10:112578200-112583000	Enhancers	Ovary	ovary
39	chr10:112578200-112584800	Enhancers	Placenta	Placenta
40	chr10:112578200-112585400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr10:112578400-112583200	Enhancers	Aorta	Aorta
42	chr10:112578400-112583200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr10:112578600-112579800	Weak transcription	Gastric	stomach
44	chr10:112578600-112580000	Weak transcription	Brain Substantia Nigra	brain
45	chr10:112578600-112583400	Enhancers	Fetal Lung	lung
46	chr10:112578600-112584800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr10:112578800-112579800	Weak transcription	HSMM	muscle
48	chr10:112578800-112580000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr10:112578800-112580000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr10:112578800-112587400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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