Variant report

Variant	esv3344886
Chromosome Location	chr5:180042430-180043215
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:180042523-180042532	Spleen_OC	spleen:	n/a	n/a
2	CTCF	chr5:180042476-180042510	Spleen_OC	spleen:	n/a	n/a
3	NR3C1	chr5:180042274-180042737	A549	lung:	n/a	n/a
4	POLR2A	chr5:180042276-180042588	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr5:180042606-180042939	H1-hESC	embryonic stem cell:	n/a	n/a
6	POU2F2	chr5:180042214-180043215	GM12891	blood:	n/a	n/a
7	SPI1	chr5:180042516-180042679	K562	blood:	n/a	n/a
8	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	chr5:180042471-180042521	Hepatocyte	liver:	n/a
2	chr5:180042471-180042521	IMR90	lung:	fetal
3	chr5:180042471-180042521	RPTEC	kidney:	n/a
4	chr5:180042471-180042521	CMK	blood:	n/a
5	chr5:180042471-180042521	MCF-7	breast:	n/a
6	chr5:180042471-180042521	HMEC	breast:	n/a
7	chr5:180042471-180042521	T-47D	breast:	n/a
8	chr5:180042471-180042521	HCT-116	colon:	n/a
9	chr5:180042471-180042521	NT2-D1	testis:	n/a
10	chr5:180042471-180042521	HepG2	liver:	n/a
11	chr5:180042471-180042521	NHDF-neo	bronchial:	n/a
12	chr5:180042471-180042521	HPAEpiC	pulmonary alveolar:	n/a
13	chr5:180042471-180042521	ECC-1	luminal epithelium:	n/a
14	chr5:180042471-180042521	HCM	heart:	n/a
15	chr5:180042471-180042521	NHBE	bronchial:	n/a
16	chr5:180042471-180042521	GM19239	blood:	n/a
17	chr5:180042471-180042521	HL-60	blood:	n/a
18	chr5:180042471-180042521	HUVEC	blood vessel:	n/a
19	chr5:180042471-180042521	PANC-1	pancreas:	n/a
20	chr5:180042471-180042521	HIPEpiC	eye:	n/a
21	chr5:180042471-180042521	AG04450	lung:	fetal
22	chr5:180042471-180042521	HNPCEpiC	eye:	n/a
23	chr5:180042471-180042521	SK-N-SH	brain:	n/a
24	chr5:180042471-180042521	ovcar-3	ovarian:	n/a
25	chr5:180042471-180042521	HRCEpiC	kidney:	n/a
26	chr5:180042471-180042521	PrEC	prostate:	n/a
27	chr5:180042471-180042521	NB4	blood:	n/a
28	chr5:180042471-180042521	GM12891	blood:	n/a
29	chr5:180042471-180042521	BJ	skin:	n/a
30	chr5:180042471-180042521	HCF	heart:	n/a
31	chr5:180042471-180042521	AoSMC	blood vessel:	n/a
32	chr5:180042471-180042521	HRPEpiC	eye:	n/a
33	chr5:180042471-180042521	NH-A	brain:	n/a
34	chr5:180042471-180042521	ProgFib	skin:	n/a
35	chr5:180042471-180042521	U87	brain:	n/a
36	chr5:180042471-180042521	HCPEpiC	choroid plexus:	n/a
37	chr5:180042471-180042521	HEK293	kidney:	embryo
38	chr5:180042471-180042521	AG09319	gingival:	n/a
39	chr5:180042471-180042521	SAEC	small airway:	n/a
40	chr5:180042471-180042521	AG10803	skin:	n/a
41	chr5:180042471-180042521	GM06990	blood:	n/a
42	chr5:180042471-180042521	PFSK-1	brain:	n/a
43	chr5:180042471-180042521	Caco-2	colon:	n/a
44	chr5:180042471-180042521	SKMC	muscle:	n/a
45	chr5:180042471-180042521	HRE	kidney:	n/a
46	chr5:180042471-180042521	SK-N-SH_RA	brain:	n/a
47	chr5:180042471-180042521	SK-N-MC	brain:	n/a
48	chr5:180042471-180042521	MCF10A-Er-Src	breast:	n/a
49	chr5:180042471-180042521	AG04449	skin:	fetal
50	chr5:180042471-180042521	GM12892	blood:	n/a

No data

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

Extended variants
information (count: 66 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112518207	chr5:180042431-180042432	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs74203609	chr5:180042443-180042444	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs112115582	chr5:180042445-180042446	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs1690606	chr5:180042446-180042447	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs71598631	chr5:180042448-180042449	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs563413456	chr5:180042472-180042473	Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs378631	chr5:180042482-180042483	Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs437028	chr5:180042483-180042484	Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs36161654	chr5:180042484-180042485	Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs113915720	chr5:180042488-180042489	Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs372157070	chr5:180042497-180042498	Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs111949772	chr5:180042507-180042508	Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs574001366	chr5:180042508-180042509	Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs111734322	chr5:180042534-180042535	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs36178154	chr5:180042545-180042546	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs111727906	chr5:180042546-180042547	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs111804217	chr5:180042578-180042579	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs191642840	chr5:180042590-180042591	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs535161806	chr5:180042598-180042599	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs112062602	chr5:180042623-180042624	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs200126189	chr5:180042633-180042634	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs369620465	chr5:180042635-180042636	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs111908839	chr5:180042637-180042638	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs112221238	chr5:180042640-180042641	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs1690605	chr5:180042667-180042668	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs373088799	chr5:180042679-180042680	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs147105533	chr5:180042681-180042682	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs111567240	chr5:180042684-180042685	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs74210996	chr5:180042711-180042712	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs528549848	chr5:180042720-180042721	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs112500576	chr5:180042724-180042725	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs67542412	chr5:180042741-180042742	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs112601959	chr5:180042768-180042769	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs1677270	chr5:180042775-180042776	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs373419424	chr5:180042780-180042781	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs11336111	chr5:180042783-180042784	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs113739414	chr5:180042786-180042787	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs10041755	chr5:180042813-180042814	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs111555910	chr5:180042827-180042828	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs78442816	chr5:180042830-180042831	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs10041774	chr5:180042857-180042858	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs10045217	chr5:180042871-180042872	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs112538163	chr5:180042874-180042875	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs372832883	chr5:180042901-180042902	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs369825934	chr5:180042913-180042914	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs551904979	chr5:180042915-180042916	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs11336112	chr5:180042916-180042917	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs74843515	chr5:180042919-180042920	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs201223307	chr5:180042920-180042921	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs74201893	chr5:180042942-180042943	Weak transcription Strong transcription	TF binding region	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:21 , 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	chr5:180041400-180044800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:180042000-180043200	Weak transcription	Lung	lung
11	chr5:180042200-180045400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:180042200-180045400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:180042400-180043200	Weak transcription	Placenta	Placenta
14	chr5:180042400-180043200	Weak transcription	Spleen	Spleen
15	chr5:180043000-180045800	Weak transcription	Liver	Liver
16	chr5:180043200-180043400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:180043200-180043600	Strong transcription	Adipose Nuclei	Adipose
18	chr5:180043200-180043800	Bivalent Enhancer	Placenta	Placenta
19	chr5:180043200-180044000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:180043200-180044000	ZNF genes & repeats	Lung	lung
21	chr5:180043200-180044000	ZNF genes & repeats	Spleen	Spleen

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