Variant report

Variant	esv3385871
Chromosome Location	chr5:42808978-42809551
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr5:42809025-42809734	HepG2	liver:	n/a	n/a
2	HEY1	chr5:42805975-42809968	HepG2	liver:	n/a	n/a
3	MBD4	chr5:42808938-42809646	HepG2	liver:	n/a	n/a
4	MBD4	chr5:42809006-42810591	HepG2	liver:	n/a	n/a
5	MYBL2	chr5:42807377-42809776	HepG2	liver:	n/a	n/a
6	NFIC	chr5:42809384-42809785	HepG2	liver:	n/a	n/a
7	POLR2A	chr5:42807877-42809854	HepG2	liver:	n/a	n/a
8	POLR2A	chr5:42808118-42809598	HepG2	liver:	n/a	n/a
9	POLR2A	chr5:42805758-42812555	HepG2	liver:	n/a	n/a
10	POLR2A	chr5:42809068-42809638	HepG2	liver:	n/a	n/a
11	POLR2A	chr5:42809023-42809353	HepG2	liver:	n/a	n/a
12	POLR2A	chr5:42798272-42812268	HepG2	liver:	n/a	n/a
13	POLR2A	chr5:42809195-42809848	HepG2	liver:	n/a	n/a
14	POLR2A	chr5:42809471-42809616	HepG2	liver:	n/a	n/a
15	RCOR1	chr5:42809433-42809619	HepG2	liver:	n/a	n/a
16	REST	chr5:42808937-42809383	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:42808126..42809697-chr5:42810037..42813024,2	K562	blood:

No data

Variant related genes	Relation type
SEPP1	TF binding region
ENSG00000250722	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530468680	chr5:42808978-42808979	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs550502835	chr5:42808979-42808980	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs375229259	chr5:42808998-42808999	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs35616713	chr5:42809021-42809022	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs56074697	chr5:42809022-42809023	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs200232650	chr5:42809030-42809031	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs200667052	chr5:42809031-42809032	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs529608119	chr5:42809038-42809039	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs149096097	chr5:42809143-42809144	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs185755189	chr5:42809166-42809167	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs368172570	chr5:42809168-42809169	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs566125307	chr5:42809187-42809188	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs577153178	chr5:42809227-42809228	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs28919892	chr5:42809308-42809309	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs76392067	chr5:42809311-42809312	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs371554018	chr5:42809326-42809327	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs537089653	chr5:42809430-42809431	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs555340136	chr5:42809469-42809470	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs16872791	chr5:42809500-42809501	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs374811174	chr5:42809542-42809543	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs575621590	chr5:42809544-42809545	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42789600-42813400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:42791400-42811200	Weak transcription	Fetal Thymus	thymus
3	chr5:42795600-42810200	Weak transcription	Thymus	Thymus
4	chr5:42797000-42810600	Weak transcription	Esophagus	oesophagus
5	chr5:42797400-42810800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:42797800-42809200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:42798200-42811200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:42799000-42811600	Weak transcription	HSMMtube	muscle
9	chr5:42799600-42811400	Weak transcription	Fetal Brain Female	brain
10	chr5:42799600-42812000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:42800000-42809400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:42800600-42811200	Weak transcription	Small Intestine	intestine
13	chr5:42802000-42809000	Weak transcription	Right Ventricle	heart
14	chr5:42802000-42809600	Weak transcription	Fetal Muscle Leg	muscle
15	chr5:42802000-42810200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:42802000-42810200	Weak transcription	Brain Germinal Matrix	brain
17	chr5:42802000-42810600	Weak transcription	Aorta	Aorta
18	chr5:42802000-42810600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr5:42802000-42810600	Weak transcription	Gastric	stomach
20	chr5:42802000-42810600	Weak transcription	Lung	lung
21	chr5:42802000-42811000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:42802000-42811200	Weak transcription	Spleen	Spleen
23	chr5:42802200-42810200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:42802400-42810600	Weak transcription	Pancreas	Pancrea
25	chr5:42802400-42810800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:42803800-42810800	Weak transcription	Fetal Brain Male	brain
27	chr5:42804600-42809400	Weak transcription	Fetal Stomach	stomach
28	chr5:42804800-42811200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:42806800-42809200	Weak transcription	Fetal Kidney	kidney
30	chr5:42807000-42809000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:42807200-42810200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr5:42807200-42810200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr5:42807200-42810800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr5:42807600-42809600	Transcr. at gene 5' and 3'	HepG2	liver
35	chr5:42807600-42812600	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr5:42807800-42809800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr5:42807800-42812800	Active TSS	Right Atrium	heart
38	chr5:42808000-42809600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr5:42808000-42812600	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr5:42808200-42809000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
41	chr5:42808200-42809200	Enhancers	Brain Angular Gyrus	brain
42	chr5:42808200-42810400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:42808200-42811000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr5:42808200-42812200	Active TSS	Duodenum Mucosa	Duodenum
45	chr5:42808200-42812600	Active TSS	Colonic Mucosa	Colon
46	chr5:42808400-42809000	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr5:42808400-42809200	Active TSS	Adipose Nuclei	Adipose
48	chr5:42808400-42809200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr5:42808400-42809400	Active TSS	Brain Anterior Caudate	brain
50	chr5:42808400-42810200	Weak transcription	NHDF-Ad	bronchial

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