Variant report

Variant	nsv181563
Chromosome Location	chr20:25371113-25371118
allele	n/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	BRCA1	chr20:25371107-25371156	HepG2	liver:	n/a	n/a
2	CCNT2	chr20:25370579-25371889	K562	blood:	n/a	chr20:25371557-25371566 chr20:25371551-25371560 chr20:25370973-25370982 chr20:25370861-25370870
3	CEBPD	chr20:25370812-25371282	HepG2	liver:	n/a	n/a
4	CHD1	chr20:25369668-25372344	IMR90	lung:	n/a	n/a
5	CREB1	chr20:25370249-25371999	HepG2	liver:	n/a	n/a
6	CREB1	chr20:25370785-25371916	A549	lung:	n/a	n/a
7	CREB1	chr20:25370914-25371912	GM12878	blood:	n/a	n/a
8	CTBP2	chr20:25370305-25371338	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr20:25371080-25371230	GM12866	blood:	n/a	n/a
10	E2F1	chr20:25370864-25371840	Hela-S3	cervix:	n/a	chr20:25371511-25371520
11	E2F4	chr20:25371025-25372301	MCF10A-Er-Src	breast:	n/a	chr20:25371511-25371520
12	E2F6	chr20:25370986-25371853	K562	blood:	n/a	chr20:25371511-25371520
13	E2F6	chr20:25371012-25371264	K562	blood:	n/a	n/a
14	E2F6	chr20:25370907-25371902	K562	blood:	n/a	chr20:25371511-25371520
15	E2F6	chr20:25370894-25372163	A549	lung:	n/a	chr20:25371511-25371520
16	EGR1	chr20:25370777-25371156	K562	blood:	n/a	chr20:25370968-25370981 chr20:25371016-25371025 chr20:25370969-25370983 chr20:25371070-25371080 chr20:25370968-25370981 chr20:25371013-25371026 chr20:25370971-25370980
17	EGR1	chr20:25370780-25371202	H1-hESC	embryonic stem cell:	n/a	chr20:25370968-25370981 chr20:25371016-25371025 chr20:25370969-25370983 chr20:25371070-25371080 chr20:25370968-25370981 chr20:25371013-25371026 chr20:25370971-25370980
18	EGR1	chr20:25370735-25371283	MCF-7	breast:	n/a	chr20:25370968-25370981 chr20:25371016-25371025 chr20:25370969-25370983 chr20:25371070-25371080 chr20:25370968-25370981 chr20:25371013-25371026 chr20:25370971-25370980 chr20:25370771-25370784
19	EGR1	chr20:25370824-25371144	K562	blood:	n/a	chr20:25370968-25370981 chr20:25371016-25371025 chr20:25370969-25370983 chr20:25371070-25371080 chr20:25370968-25370981 chr20:25371013-25371026 chr20:25370971-25370980
20	EGR1	chr20:25370528-25371273	HCT-116	colon:	n/a	chr20:25370968-25370981 chr20:25371016-25371025 chr20:25370969-25370983 chr20:25371070-25371080 chr20:25370968-25370981 chr20:25370541-25370554 chr20:25371013-25371026 chr20:25370971-25370980 chr20:25370771-25370784
21	ELF1	chr20:25370286-25371884	GM12878	blood:	n/a	chr20:25371532-25371544 chr20:25371417-25371429 chr20:25371484-25371496 chr20:25371556-25371568
22	ELF1	chr20:25371065-25371529	HepG2	liver:	n/a	chr20:25371417-25371429 chr20:25371484-25371496
23	ELF1	chr20:25371093-25371823	GM12878	blood:	n/a	chr20:25371532-25371544 chr20:25371417-25371429 chr20:25371484-25371496 chr20:25371556-25371568
24	EP300	chr20:25370625-25371890	SK-N-SH	brain:	n/a	chr20:25371070-25371086 chr20:25371397-25371413 chr20:25370784-25370800 chr20:25371393-25371409 chr20:25371484-25371500
25	EP300	chr20:25370713-25371970	ECC-1	luminal epithelium:	n/a	chr20:25371070-25371086 chr20:25371397-25371413 chr20:25370784-25370800 chr20:25371393-25371409 chr20:25371952-25371962 chr20:25371484-25371500
26	FOXP2	chr20:25370826-25371832	PFSK-1	brain:	n/a	n/a
27	HA-E2F1	chr20:25370340-25372034	MCF-7	breast:	n/a	chr20:25370490-25370499 chr20:25371511-25371520
28	HA-E2F1	chr20:25370516-25371861	Hela-S3	cervix:	n/a	chr20:25371511-25371520
29	HCFC1	chr20:25371070-25371869	K562	blood:	n/a	n/a
30	HDAC2	chr20:25370418-25372003	HepG2	liver:	n/a	chr20:25371952-25371961
31	HEY1	chr20:25371057-25371937	HepG2	liver:	n/a	chr20:25371595-25371610 chr20:25371523-25371538 chr20:25371652-25371667 chr20:25371562-25371577
32	HEY1	chr20:25370762-25371963	HepG2	liver:	n/a	chr20:25371595-25371610 chr20:25371523-25371538 chr20:25371652-25371667 chr20:25371562-25371577
33	HMGN3	chr20:25370531-25371880	K562	blood:	n/a	n/a
34	JUND	chr20:25371107-25371863	A549	lung:	n/a	chr20:25371513-25371522
35	JUND	chr20:25371044-25371132	K562	blood:	n/a	n/a
36	KAP1	chr20:25371023-25371246	HEK293	kidney:	n/a	n/a
37	MAX	chr20:25370996-25371139	K562	blood:	n/a	n/a
38	MAX	chr20:25371086-25371959	K562	blood:	n/a	chr20:25371567-25371577
39	MAX	chr20:25370556-25372043	MCF-7	breast:	n/a	chr20:25371567-25371577
40	MAX	chr20:25370277-25371964	K562	blood:	n/a	chr20:25371567-25371577
41	MAX	chr20:25369992-25372078	HepG2	liver:	n/a	chr20:25371567-25371577
42	MAX	chr20:25370597-25371370	ECC-1	luminal epithelium:	n/a	n/a
43	MAX	chr20:25370165-25371984	NB4	blood:	n/a	chr20:25371567-25371577
44	MAX	chr20:25370373-25371945	GM12878	blood:	n/a	chr20:25371567-25371577
45	MAX	chr20:25370247-25372036	HepG2	liver:	n/a	chr20:25371567-25371577
46	MAX	chr20:25369897-25372056	A549	lung:	n/a	chr20:25371567-25371577
47	MAX	chr20:25370681-25371932	ECC-1	luminal epithelium:	n/a	chr20:25371567-25371577
48	MAX	chr20:25370365-25371941	HepG2	liver:	n/a	chr20:25371567-25371577
49	MAX	chr20:25371062-25371938	H1-hESC	embryonic stem cell:	n/a	chr20:25371567-25371577
50	MAX	chr20:25370272-25371995	A549	lung:	n/a	chr20:25371567-25371577

No.	Distal block	Cell Line	Cell type
1	chr20:25175542..25177840-chr20:25370513..25373072,2	MCF-7	breast:
2	chr20:25274373..25276866-chr20:25369511..25371754,2	K562	blood:
3	chr20:25290481..25292963-chr20:25369877..25371974,2	MCF-7	breast:
4	chr20:25370156..25372734-chr20:25387934..25390472,3	MCF-7	breast:
5	chr20:25369196..25373772-chr20:25386901..25390344,6	MCF-7	breast:
6	chr20:25347572..25351720-chr20:25369390..25373253,5	MCF-7	breast:
7	chr20:25316023..25323524-chr20:25367529..25373124,12	MCF-7	breast:

Variant related genes	Relation type
ABHD12	TF binding region
ENSG00000227379	chromatin interactions
ENSG00000101003	chromatin interactions
ENSG00000197586	chromatin interactions
ENSG00000100994	chromatin interactions
ENSG00000100997	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 56 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139848340	chr20:25371113-25371114	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25369800-25372000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr20:25369800-25372400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr20:25369800-25372400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr20:25369800-25372400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr20:25369800-25372400	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr20:25369800-25372400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr20:25369800-25372400	Active TSS	Fetal Brain Female	brain
8	chr20:25369800-25372400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr20:25369800-25372400	Active TSS	Placenta	Placenta
10	chr20:25369800-25372400	Active TSS	NHDF-Ad	bronchial
11	chr20:25369800-25372400	Active TSS	NHLF	lung
12	chr20:25369800-25372800	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr20:25370000-25371200	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr20:25370000-25372000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr20:25370000-25372000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr20:25370000-25372000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr20:25370000-25372000	Active TSS	Brain Cingulate Gyrus	brain
18	chr20:25370000-25372000	Active TSS	Esophagus	oesophagus
19	chr20:25370000-25372200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr20:25370000-25372400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr20:25370000-25372400	Active TSS	H9 Cell Line	embryonic stem cell
22	chr20:25370000-25372400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr20:25370000-25372400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr20:25370000-25372400	Active TSS	Brain Germinal Matrix	brain
25	chr20:25370200-25371200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr20:25370200-25371800	Active TSS	Gastric	stomach
27	chr20:25370200-25371800	Active TSS	Lung	lung
28	chr20:25370200-25372000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr20:25370200-25372000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr20:25370200-25372000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr20:25370200-25372000	Active TSS	Brain Hippocampus Middle	brain
32	chr20:25370200-25372000	Active TSS	Brain Substantia Nigra	brain
33	chr20:25370200-25372000	Active TSS	Fetal Intestine Large	intestine
34	chr20:25370200-25372000	Active TSS	Left Ventricle	heart
35	chr20:25370200-25372000	Active TSS	Ovary	ovary
36	chr20:25370200-25372000	Active TSS	HSMM	muscle
37	chr20:25370200-25372200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr20:25370200-25372200	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr20:25370200-25372200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr20:25370200-25372200	Active TSS	Fetal Intestine Small	intestine
41	chr20:25370200-25372200	Active TSS	Fetal Lung	lung
42	chr20:25370200-25372200	Active TSS	Fetal Muscle Trunk	muscle
43	chr20:25370200-25372200	Active TSS	Fetal Muscle Leg	muscle
44	chr20:25370200-25372400	Active TSS	H1 Cell Line	embryonic stem cell
45	chr20:25370200-25372400	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr20:25370200-25372400	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr20:25370200-25372400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr20:25370200-25372400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr20:25370200-25372400	Active TSS	Fetal Thymus	thymus
50	chr20:25370400-25371400	Active TSS	Small Intestine	intestine

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