Variant report

Variant	esv3442347
Chromosome Location	chr4:56557073-56574616
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:56562390..56565132-chr4:56566975..56569939,2	K562	blood:
2	chr4:56567077..56569612-chr4:56570589..56573149,3	K562	blood:
3	chr4:56563632..56566026-chr4:56568439..56570285,2	K562	blood:
4	chr4:56563632..56566026-chr4:56568439..56570285,2	K562	blood:
5	chr4:56567077..56569612-chr4:56570589..56573149,3	K562	blood:
6	chr4:56571957..56574091-chr4:56598749..56600551,2	K562	blood:
7	chr4:56562390..56565132-chr4:56566975..56569939,2	K562	blood:

Extended variants
information (count: 244 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:244 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375637607	chr4:56567849-56567850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567445679	chr4:56567854-56567855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536211996	chr4:56567865-56567866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552959647	chr4:56567866-56567867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556941469	chr4:56567876-56567877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566778569	chr4:56567893-56567894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190429389	chr4:56567917-56567918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537536601	chr4:56568008-56568009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559019809	chr4:56568067-56568068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575771337	chr4:56568072-56568073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6554305	chr4:56568075-56568076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs554611829	chr4:56568104-56568105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549996519	chr4:56568145-56568146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376355003	chr4:56568157-56568158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112077148	chr4:56568161-56568162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540186670	chr4:56568206-56568207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181252132	chr4:56568253-56568254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370591021	chr4:56568319-56568320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532187828	chr4:56568454-56568455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35484068	chr4:56568468-56568469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546065267	chr4:56568481-56568482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143729852	chr4:56568508-56568509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6828640	chr4:56568521-56568522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs151271121	chr4:56568535-56568536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576405739	chr4:56568598-56568599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567384245	chr4:56568678-56568679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553669434	chr4:56568732-56568733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571984163	chr4:56568755-56568756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186607463	chr4:56568773-56568774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140343911	chr4:56568774-56568775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566511312	chr4:56568827-56568828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371913637	chr4:56568846-56568847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10715958	chr4:56568847-56568848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113798806	chr4:56568867-56568868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397993449	chr4:56568868-56568869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538682945	chr4:56568884-56568885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6829328	chr4:56568889-56568890	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs368127709	chr4:56568890-56568891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371680975	chr4:56568936-56568937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371949109	chr4:56568950-56568951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6829521	chr4:56568958-56568959	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs189545197	chr4:56568965-56568966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553944476	chr4:56568976-56568977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557898636	chr4:56568983-56568984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551141345	chr4:56568999-56569000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545504134	chr4:56569007-56569008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374953167	chr4:56569008-56569009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555334595	chr4:56569012-56569013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs180926802	chr4:56569037-56569038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186125635	chr4:56569063-56569064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	22183965	CNVD
Autism	22543975	CNVD
Breast cancer	21785460	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56567800-56570200	Weak transcription	Aorta	Aorta
2	chr4:56570600-56571000	Enhancers	K562	blood
3	chr4:56571000-56573400	Weak transcription	K562	blood
4	chr4:56572000-56572600	Enhancers	NHDF-Ad	bronchial
5	chr4:56572200-56572800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:56572200-56573600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr4:56572400-56573800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:56572600-56573000	Enhancers	Osteobl	bone
9	chr4:56572600-56573200	Weak transcription	NHDF-Ad	bronchial
10	chr4:56572800-56573200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:56573200-56573400	Enhancers	NHDF-Ad	bronchial
12	chr4:56573200-56573600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:56573400-56574000	Active TSS	K562	blood
14	chr4:56573600-56574200	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr4:56573800-56574000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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