Variant report

Variant	esv2638857
Chromosome Location	chr5:180042192-180042192
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr5:180042076-180043204	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:180042144-180042194	HAEpiC	amniotic membrane:	n/a
2	chr5:180042144-180042194	BE2_C	brain:	n/a
3	chr5:180042144-180042194	PFSK-1	brain:	n/a
4	chr5:180042144-180042194	HEEpiC	esophagus:	n/a
5	chr5:180042144-180042194	Hepatocyte	liver:	n/a
6	chr5:180042144-180042194	AG04450	lung:	fetal
7	chr5:180042144-180042194	AoSMC	blood vessel:	n/a
8	chr5:180042144-180042194	SK-N-SH_RA	brain:	n/a
9	chr5:180042144-180042194	K562	blood:	n/a
10	chr5:180042144-180042194	GM06990	blood:	n/a
11	chr5:180042144-180042194	HIPEpiC	eye:	n/a
12	chr5:180042144-180042194	HCF	heart:	n/a
13	chr5:180042144-180042194	ovcar-3	ovarian:	n/a
14	chr5:180042144-180042194	NHDF-neo	bronchial:	n/a
15	chr5:180042144-180042194	HCT-116	colon:	n/a
16	chr5:180042144-180042194	ECC-1	luminal epithelium:	n/a
17	chr5:180042144-180042194	MCF-7	breast:	n/a
18	chr5:180042144-180042194	GM12878	blood:	n/a
19	chr5:180042144-180042194	GM19239	blood:	n/a
20	chr5:180042144-180042194	AG10803	skin:	n/a
21	chr5:180042144-180042194	SK-N-MC	brain:	n/a
22	chr5:180042144-180042194	SK-N-SH	brain:	n/a
23	chr5:180042144-180042194	HPAEpiC	pulmonary alveolar:	n/a
24	chr5:180042144-180042194	CMK	blood:	n/a
25	chr5:180042144-180042194	IMR90	lung:	fetal
26	chr5:180042144-180042194	T-47D	breast:	n/a
27	chr5:180042144-180042194	ProgFib	skin:	n/a
28	chr5:180042144-180042194	SAEC	small airway:	n/a
29	chr5:180042144-180042194	NB4	blood:	n/a
30	chr5:180042144-180042194	HRPEpiC	eye:	n/a
31	chr5:180042144-180042194	HCPEpiC	choroid plexus:	n/a
32	chr5:180042144-180042194	HRE	kidney:	n/a
33	chr5:180042144-180042194	HCM	heart:	n/a
34	chr5:180042144-180042194	Caco-2	colon:	n/a
35	chr5:180042144-180042194	BJ	skin:	n/a
36	chr5:180042144-180042194	HMEC	breast:	n/a
37	chr5:180042144-180042194	H1-hESC	embryonic stem cell:	embryo
38	chr5:180042144-180042194	AG04449	skin:	fetal
39	chr5:180042144-180042194	SKMC	muscle:	n/a
40	chr5:180042144-180042194	HEK293	kidney:	embryo
41	chr5:180042144-180042194	A549	lung:	n/a
42	chr5:180042144-180042194	PANC-1	pancreas:	n/a
43	chr5:180042144-180042194	PrEC	prostate:	n/a
44	chr5:180042144-180042194	U87	brain:	n/a
45	chr5:180042144-180042194	GM12891	blood:	n/a
46	chr5:180042144-180042194	NHBE	bronchial:	n/a
47	chr5:180042144-180042194	NT2-D1	testis:	n/a
48	chr5:180042144-180042194	AG09319	gingival:	n/a
49	chr5:180042144-180042194	Hela-S3	cervix:	n/a
50	chr5:180042144-180042194	HL-60	blood:	n/a

No data

Variant related genes	Relation type
FLT4	TF binding region
FLT4	CpG island

Extended variants
information (count: 1 )
Associated
traits (count: 100 )

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	rs10712663	chr5:180042192-180042193	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	22543975	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:180018800-180045800	Weak transcription	Right Atrium	heart
2	chr5:180029400-180045600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:180029800-180043200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:180035600-180043400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:180037200-180043200	Weak transcription	Adipose Nuclei	Adipose
6	chr5:180037400-180043400	Weak transcription	Right Ventricle	heart
7	chr5:180039600-180044000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:180040000-180061200	Weak transcription	Gastric	stomach
9	chr5:180041400-180042200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:180041400-180044800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:180041800-180042400	ZNF genes & repeats	Placenta	Placenta
12	chr5:180042000-180042400	ZNF genes & repeats	Spleen	Spleen
13	chr5:180042000-180043200	Weak transcription	Lung	lung

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