Variant report

Variant	esv14604
Chromosome Location	chr4:56609458-56610582
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:56481534..56484408-chr4:56607415..56610057,2	K562	blood:
2	chr4:56596053..56598450-chr4:56609132..56610849,2	K562	blood:
3	chr4:56600328..56605093-chr4:56606071..56610406,4	K562	blood:
4	chr4:56609301..56611255-chr4:56614835..56616393,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4391102	chr4:56609472-56609473	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs4129570	chr4:56609483-56609484	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs570716045	chr4:56609522-56609523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556550979	chr4:56609536-56609537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs386674594	chr4:56609540-56609541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537357025	chr4:56609555-56609556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73238316	chr4:56609560-56609561	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs71664300	chr4:56609641-56609642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78476981	chr4:56609656-56609657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71192042	chr4:56609657-56609658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200378003	chr4:56609659-56609660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77865067	chr4:56609688-56609689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373137039	chr4:56609698-56609699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138726732	chr4:56609719-56609720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544382785	chr4:56609735-56609736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4391103	chr4:56609736-56609737	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs74376034	chr4:56609797-56609798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187692998	chr4:56609806-56609807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114554338	chr4:56609817-56609818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563859344	chr4:56609866-56609867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10031105	chr4:56609872-56609873	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs549595063	chr4:56609873-56609874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192279747	chr4:56609875-56609876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528229011	chr4:56609905-56609906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551361329	chr4:56609920-56609921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112391608	chr4:56609926-56609927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141182100	chr4:56609993-56609994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184071822	chr4:56610072-56610073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371547459	chr4:56610103-56610104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537294922	chr4:56610107-56610108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556982341	chr4:56610109-56610110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567589035	chr4:56610133-56610134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187240332	chr4:56610143-56610144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553163514	chr4:56610152-56610153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572193985	chr4:56610165-56610166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563014130	chr4:56610192-56610193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541144854	chr4:56610252-56610253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10003051	chr4:56610309-56610310	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs28628774	chr4:56610342-56610343	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs544054206	chr4:56610351-56610352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374688175	chr4:56610361-56610362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397971037	chr4:56610367-56610368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563818602	chr4:56610399-56610400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529639281	chr4:56610451-56610452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542836799	chr4:56610461-56610462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560003828	chr4:56610468-56610469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528165218	chr4:56610540-56610541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574164409	chr4:56610551-56610552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538563300	chr4:56610563-56610564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56608800-56609600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:56609000-56609600	Enhancers	Fetal Stomach	stomach
3	chr4:56609200-56609600	Enhancers	Fetal Muscle Trunk	muscle
4	chr4:56609200-56609600	Enhancers	Fetal Muscle Leg	muscle
5	chr4:56609400-56610200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:56609400-56613800	Weak transcription	K562	blood
7	chr4:56610000-56610800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:56610200-56611000	Enhancers	Stomach Mucosa	stomach

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