Variant report

Variant	esv3439250
Chromosome Location	chr5:180060871-180064219
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	CTCF	chr5:180062384-180062431	GM19239	blood:	n/a	n/a
2	CTCF	chr5:180060860-180061010	K562	blood:	n/a	n/a
3	CTCF	chr5:180060900-180061050	HepG2	liver:	n/a	n/a
4	CTCF	chr5:180060903-180061058	K562	blood:	n/a	n/a
5	FOSL2	chr5:180063326-180063936	SK-N-SH	brain:	n/a	n/a
6	JUND	chr5:180063364-180063962	SK-N-SH	brain:	n/a	n/a
7	RAD21	chr5:180060908-180061074	K562	blood:	n/a	n/a
8	TCF12	chr5:180063264-180064019	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:180048401..180050293-chr5:180059742..180062204,2	MCF-7	breast:

Variant related genes	Relation type
FLT4	TF binding region

Extended variants
information (count: 172 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147209861	chr5:180060877-180060878	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs531292816	chr5:180060878-180060879	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs547992421	chr5:180060903-180060904	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs115037823	chr5:180060913-180060914	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs36061354	chr5:180060988-180060989	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs114538664	chr5:180061016-180061017	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs372362537	chr5:180061023-180061024	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs114969297	chr5:180061025-180061026	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs199664640	chr5:180061069-180061070	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs189789838	chr5:180061109-180061110	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs35633012	chr5:180061120-180061121	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs140525675	chr5:180061158-180061159	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs370200852	chr5:180061190-180061191	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs75281329	chr5:180061191-180061192	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs563169935	chr5:180061195-180061196	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs144358813	chr5:180061208-180061209	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs541522506	chr5:180061220-180061221	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs373191559	chr5:180061278-180061279	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs578197679	chr5:180061279-180061280	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs544133217	chr5:180061288-180061289	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs181142697	chr5:180061395-180061396	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs371600700	chr5:180061396-180061397	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs12517491	chr5:180061414-180061415	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs185154531	chr5:180061422-180061423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371102714	chr5:180061429-180061430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527412775	chr5:180061440-180061441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547052755	chr5:180061473-180061474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570331794	chr5:180061474-180061475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111523115	chr5:180061529-180061530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549671642	chr5:180061559-180061560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534646182	chr5:180061574-180061575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs151276195	chr5:180061601-180061602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558986116	chr5:180061611-180061612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528666972	chr5:180061619-180061620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140492735	chr5:180061626-180061627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565900878	chr5:180061674-180061675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535145776	chr5:180061744-180061745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558237809	chr5:180061764-180061765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs578225158	chr5:180061765-180061766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144695957	chr5:180061807-180061808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12518056	chr5:180061810-180061811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113267430	chr5:180061811-180061812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28452823	chr5:180061812-180061813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113628681	chr5:180061816-180061817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12657377	chr5:180061820-180061821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201690343	chr5:180061834-180061835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs28550729	chr5:180061837-180061838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12653381	chr5:180061841-180061842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12657397	chr5:180061845-180061846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189521591	chr5:180061870-180061871	Weak transcription	n/a	n/a	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:180040000-180061200	Weak transcription	Gastric	stomach
2	chr5:180046200-180071800	Weak transcription	Liver	Liver
3	chr5:180046400-180072200	Weak transcription	Right Atrium	heart
4	chr5:180056800-180068400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:180057400-180061400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
6	chr5:180057800-180063000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:180058400-180061200	Enhancers	Spleen	Spleen
8	chr5:180058800-180061200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr5:180059600-180065000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:180059800-180061000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:180060000-180063200	Weak transcription	Fetal Muscle Leg	muscle
12	chr5:180060200-180061000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:180060200-180061000	Weak transcription	Lung	lung
14	chr5:180060600-180061200	Enhancers	Left Ventricle	heart
15	chr5:180060600-180063200	Weak transcription	Right Ventricle	heart
16	chr5:180061000-180061200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr5:180061000-180061200	Enhancers	Lung	lung
18	chr5:180061000-180063200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:180061200-180063000	Weak transcription	Lung	lung
20	chr5:180061200-180063000	Weak transcription	Spleen	Spleen
21	chr5:180061200-180065000	Weak transcription	Left Ventricle	heart
22	chr5:180063000-180064000	Enhancers	Lung	lung
23	chr5:180063000-180064000	Enhancers	Spleen	Spleen
24	chr5:180063000-180064200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:180063200-180063400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr5:180063200-180063400	Enhancers	Fetal Muscle Leg	muscle
27	chr5:180063200-180063600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:180063200-180064200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:180063200-180064200	Enhancers	NH-A	brain
30	chr5:180063200-180064600	Enhancers	Right Ventricle	heart
31	chr5:180063400-180064000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr5:180063400-180064000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr5:180063600-180064000	Enhancers	Adipose Nuclei	Adipose
34	chr5:180064000-180065000	Weak transcription	Lung	lung
35	chr5:180064000-180066400	Weak transcription	Adipose Nuclei	Adipose
36	chr5:180064000-180066400	Weak transcription	Spleen	Spleen
37	chr5:180064200-180064600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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