Variant report

Variant	esv1847710
Chromosome Location	chr5:178943504-178944506
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	EGR1	chr5:178943722-178944360	GM12878	blood:	n/a	n/a
2	GABPA	chr5:178943832-178944289	GM12878	blood:	n/a	n/a
3	IRF4	chr5:178943792-178944382	GM12878	blood:	n/a	n/a
4	NR3C1	chr5:178943752-178944205	A549	lung:	n/a	n/a
5	PAX5	chr5:178943793-178944387	GM12878	blood:	n/a	n/a
6	ZBTB33	chr5:178943807-178944097	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000251545	TF binding region
ENSG00000253652	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149221473	chr5:178943522-178943523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543499817	chr5:178943526-178943527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192381987	chr5:178943562-178943563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541706025	chr5:178943640-178943641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs28542265	chr5:178943651-178943652	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs111617813	chr5:178943656-178943657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139267980	chr5:178943671-178943672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570507291	chr5:178943774-178943775	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs377270023	chr5:178943775-178943776	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs2020045	chr5:178943789-178943790	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs563984794	chr5:178943791-178943792	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs71611498	chr5:178943794-178943795	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs71611499	chr5:178943799-178943800	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs59042973	chr5:178943803-178943804	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs561642717	chr5:178943811-178943812	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs368681339	chr5:178943827-178943828	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs13164809	chr5:178943834-178943835	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs56100143	chr5:178943835-178943836	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs71577038	chr5:178943875-178943876	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs2020046	chr5:178943886-178943887	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs78439492	chr5:178943904-178943905	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs28499145	chr5:178943937-178943938	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs112242881	chr5:178943942-178943943	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs113181162	chr5:178943947-178943948	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs113190720	chr5:178943952-178943953	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs113674417	chr5:178943981-178943982	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs13184566	chr5:178943988-178943989	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs113106679	chr5:178943993-178943994	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs113538249	chr5:178943998-178943999	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs112972215	chr5:178944003-178944004	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs371398446	chr5:178944006-178944007	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs4080743	chr5:178944007-178944008	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs112410845	chr5:178944032-178944033	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs375930562	chr5:178944039-178944040	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs567159908	chr5:178944079-178944080	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs367670855	chr5:178944090-178944091	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs372249536	chr5:178944108-178944109	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs111878750	chr5:178944134-178944135	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs13184833	chr5:178944141-178944142	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs113291761	chr5:178944185-178944186	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs10070395	chr5:178944192-178944193	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs13185002	chr5:178944243-178944244	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs62395215	chr5:178944294-178944295	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs78379640	chr5:178944299-178944300	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs571005138	chr5:178944311-178944312	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs113713619	chr5:178944331-178944332	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs74201638	chr5:178944345-178944346	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs201556683	chr5:178944347-178944348	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs201278256	chr5:178944350-178944351	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs556273220	chr5:178944361-178944362	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Acute lymphoblastic leukemia	20435627	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
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
small cell lung cancer	20016488	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178941000-178946800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:178942000-178943600	Enhancers	HepG2	liver
3	chr5:178942800-178943600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr5:178943200-178943600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:178943400-178943600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:178943600-178944600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:178943600-178946600	Weak transcription	HepG2	liver
8	chr5:178943600-178949000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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