Variant report

Variant	esv15265
Chromosome Location	chr5:180041765-180045486
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:244)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 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	chr5:180042606-180042939	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr5:180042276-180042588	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
9	YY1	chr5:180041720-180041849	K562	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:180042471-180042521	RPTEC	kidney:	n/a
2	chr5:180042144-180042194	T-47D	breast:	n/a
3	chr5:180041908-180041958	K562	blood:	n/a
4	chr5:180042144-180042194	HCPEpiC	choroid plexus:	n/a
5	chr5:180044026-180044076	AG09309	skin:	n/a
6	chr5:180042144-180042194	SK-N-SH	brain:	n/a
7	chr5:180044026-180044076	HCPEpiC	choroid plexus:	n/a
8	chr5:180042144-180042194	RPTEC	kidney:	n/a
9	chr5:180042471-180042521	HAEpiC	amniotic membrane:	n/a
10	chr5:180044026-180044076	MCF10A-Er-Src	breast:	n/a
11	chr5:180041908-180041958	PrEC	prostate:	n/a
12	chr5:180042471-180042521	HRPEpiC	eye:	n/a
13	chr5:180042471-180042521	NB4	blood:	n/a
14	chr5:180041908-180041958	AoSMC	blood vessel:	n/a
15	chr5:180044026-180044076	GM19239	blood:	n/a
16	chr5:180044026-180044076	U87	brain:	n/a
17	chr5:180044026-180044076	HIPEpiC	eye:	n/a
18	chr5:180041908-180041958	AG04449	skin:	fetal
19	chr5:180044026-180044076	NH-A	brain:	n/a
20	chr5:180042471-180042521	MCF10A-Er-Src	breast:	n/a
21	chr5:180042471-180042521	HRE	kidney:	n/a
22	chr5:180042471-180042521	AG09319	gingival:	n/a
23	chr5:180044026-180044076	MCF-7	breast:	n/a
24	chr5:180044026-180044076	HRCEpiC	kidney:	n/a
25	chr5:180041908-180041958	SK-N-SH_RA	brain:	n/a
26	chr5:180042144-180042194	NH-A	brain:	n/a
27	chr5:180041908-180041958	T-47D	breast:	n/a
28	chr5:180042144-180042194	AG04450	lung:	fetal
29	chr5:180042144-180042194	AoSMC	blood vessel:	n/a
30	chr5:180041908-180041958	GM19239	blood:	n/a
31	chr5:180042471-180042521	HCM	heart:	n/a
32	chr5:180044026-180044076	HCT-116	colon:	n/a
33	chr5:180042144-180042194	NT2-D1	testis:	n/a
34	chr5:180042471-180042521	HMEC	breast:	n/a
35	chr5:180044026-180044076	HL-60	blood:	n/a
36	chr5:180042471-180042521	AG04450	lung:	fetal
37	chr5:180044026-180044076	ProgFib	skin:	n/a
38	chr5:180042471-180042521	K562	blood:	n/a
39	chr5:180041908-180041958	HepG2	liver:	n/a
40	chr5:180042144-180042194	GM12892	blood:	n/a
41	chr5:180044026-180044076	PFSK-1	brain:	n/a
42	chr5:180041908-180041958	HCM	heart:	n/a
43	chr5:180042471-180042521	NT2-D1	testis:	n/a
44	chr5:180042144-180042194	HMEC	breast:	n/a
45	chr5:180044026-180044076	K562	blood:	n/a
46	chr5:180042471-180042521	HCF	heart:	n/a
47	chr5:180042471-180042521	SK-N-SH_RA	brain:	n/a
48	chr5:180042144-180042194	GM06990	blood:	n/a
49	chr5:180044026-180044076	HCF	heart:	n/a
50	chr5:180042144-180042194	NHDF-neo	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:179758608..179760983-chr5:180044449..180046070,2	MCF-7	breast:
2	chr5:180031301..180033388-chr5:180043244..180045976,2	MCF-7	breast:

No data

Variant related genes	Relation type
FLT4	TF binding region
FLT4	CpG island
ENSG00000131459	chromatin interactions

Extended variants
information (count: 274 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114137599	chr5:180041772-180041773	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs187582003	chr5:180041781-180041782	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs191912637	chr5:180041800-180041801	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs80336108	chr5:180041808-180041809	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs543309451	chr5:180041809-180041810	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs35298539	chr5:180041837-180041838	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs13155357	chr5:180041868-180041869	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs529257004	chr5:180041895-180041896	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549484791	chr5:180041910-180041911	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs367217	chr5:180041999-180042000	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs542302544	chr5:180042029-180042030	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs369378438	chr5:180042038-180042039	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs559561010	chr5:180042080-180042081	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs559022336	chr5:180042085-180042086	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs372919017	chr5:180042097-180042098	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs551966272	chr5:180042111-180042112	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs528132615	chr5:180042116-180042117	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs527665976	chr5:180042121-180042122	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs182248340	chr5:180042134-180042135	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs569659483	chr5:180042145-180042146	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs56125108	chr5:180042153-180042154	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs186841381	chr5:180042163-180042164	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs112704946	chr5:180042180-180042181	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs10712663	chr5:180042192-180042193	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs56030775	chr5:180042194-180042195	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs59206179	chr5:180042195-180042196	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs56400262	chr5:180042198-180042199	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs557577667	chr5:180042209-180042210	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs55853153	chr5:180042225-180042226	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs151294633	chr5:180042229-180042230	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs143329383	chr5:180042234-180042235	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs371804163	chr5:180042235-180042236	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs577405025	chr5:180042238-180042239	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs36191547	chr5:180042243-180042244	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs71598630	chr5:180042249-180042250	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs55724245	chr5:180042254-180042255	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs392299	chr5:180042255-180042256	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs56346104	chr5:180042261-180042262	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs376419338	chr5:180042266-180042267	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs77960337	chr5:180042283-180042284	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs200789750	chr5:180042291-180042292	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs201835222	chr5:180042295-180042296	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs375756144	chr5:180042298-180042299	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs55703303	chr5:180042301-180042302	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs113554594	chr5:180042328-180042329	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs142096369	chr5:180042336-180042337	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs374007599	chr5:180042346-180042347	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs368267225	chr5:180042352-180042353	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs112450045	chr5:180042386-180042387	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs375842648	chr5:180042398-180042399	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

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	chr5:180041200-180041800	Weak transcription	Placenta	Placenta
10	chr5:180041400-180042200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:180041400-180044800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:180041600-180042000	Enhancers	Lung	lung
13	chr5:180041600-180042000	Genic enhancers	Spleen	Spleen
14	chr5:180041800-180042400	ZNF genes & repeats	Placenta	Placenta
15	chr5:180042000-180042400	ZNF genes & repeats	Spleen	Spleen
16	chr5:180042000-180043200	Weak transcription	Lung	lung
17	chr5:180042200-180045400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:180042200-180045400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:180042400-180043200	Weak transcription	Placenta	Placenta
20	chr5:180042400-180043200	Weak transcription	Spleen	Spleen
21	chr5:180043000-180045800	Weak transcription	Liver	Liver
22	chr5:180043200-180043400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:180043200-180043600	Strong transcription	Adipose Nuclei	Adipose
24	chr5:180043200-180043800	Bivalent Enhancer	Placenta	Placenta
25	chr5:180043200-180044000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:180043200-180044000	ZNF genes & repeats	Lung	lung
27	chr5:180043200-180044000	ZNF genes & repeats	Spleen	Spleen
28	chr5:180043400-180043800	Enhancers	Brain Anterior Caudate	brain
29	chr5:180043400-180043800	Bivalent Enhancer	Right Ventricle	heart
30	chr5:180043400-180044000	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:180043400-180044000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:180043600-180044200	ZNF genes & repeats	Adipose Nuclei	Adipose
33	chr5:180043600-180044200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr5:180043800-180044000	Bivalent Enhancer	Brain Anterior Caudate	brain
35	chr5:180043800-180044000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr5:180044000-180044800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:180044000-180045400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:180044000-180045400	Weak transcription	Spleen	Spleen
39	chr5:180044000-180046000	Weak transcription	Lung	lung
40	chr5:180044800-180045400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:180044800-180046600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:180045400-180045600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:180045400-180045600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr5:180045400-180045600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:180045400-180045600	Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr5:180045400-180045600	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr5:180045400-180045600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:180045400-180045600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr5:180045400-180045600	Bivalent Enhancer	Brain Germinal Matrix	brain
50	chr5:180045400-180045600	Enhancers	Esophagus	oesophagus

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