Variant report

Variant	esv32833
Chromosome Location	chr4:56527823-56535040
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:56527671..56530669-chr4:56531905..56533687,2	K562	blood:
2	chr4:56507649..56509909-chr4:56526051..56528840,3	K562	blood:
3	chr4:56529070..56532802-chr4:56534666..56538344,3	K562	blood:
4	chr4:56531998..56534382-chr4:56600029..56601817,2	K562	blood:
5	chr4:56527671..56530669-chr4:56531905..56533687,2	K562	blood:
6	chr4:56523921..56526378-chr4:56528208..56530318,2	K562	blood:
7	chr4:56501844..56503895-chr4:56534983..56537847,2	K562	blood:
8	chr4:56529070..56532802-chr4:56534666..56538344,3	K562	blood:
9	chr4:56532999..56536054-chr4:56538312..56541698,3	K562	blood:
10	chr4:56520164..56522203-chr4:56529132..56532078,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000109255	chromatin interactions

Extended variants
information (count: 285 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:285 , 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	rs531684957	chr4:56527847-56527848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548227490	chr4:56527855-56527856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs151288812	chr4:56527879-56527880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140614095	chr4:56527885-56527886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547794950	chr4:56527900-56527901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571102369	chr4:56527929-56527930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371995645	chr4:56527939-56527940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539094376	chr4:56527949-56527950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556114238	chr4:56527950-56527951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73150966	chr4:56528020-56528021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544227090	chr4:56528027-56528028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138162548	chr4:56528084-56528085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572286716	chr4:56528113-56528114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562526299	chr4:56528120-56528121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141198403	chr4:56528133-56528134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577856964	chr4:56528153-56528154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73236180	chr4:56528163-56528164	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs548271853	chr4:56528188-56528189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562901764	chr4:56528199-56528200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28676543	chr4:56528248-56528249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145072166	chr4:56528255-56528256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561817213	chr4:56528279-56528280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527907101	chr4:56528312-56528313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138860981	chr4:56528314-56528315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369262280	chr4:56528315-56528316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571098491	chr4:56528390-56528391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560335818	chr4:56528419-56528420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533674067	chr4:56528444-56528445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370040446	chr4:56528538-56528539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141795943	chr4:56528563-56528564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs58150032	chr4:56528564-56528565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs535409155	chr4:56528644-56528645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78622117	chr4:56528683-56528684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73236181	chr4:56528721-56528722	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs34370242	chr4:56528783-56528784	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
36	rs557926523	chr4:56528801-56528802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574295001	chr4:56528813-56528814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12508869	chr4:56528836-56528837	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs543707605	chr4:56528874-56528875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556800761	chr4:56528961-56528962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549838936	chr4:56528968-56528969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192496506	chr4:56528975-56528976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372309962	chr4:56529026-56529027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541797862	chr4:56529081-56529082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551079565	chr4:56529093-56529094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369826895	chr4:56529172-56529173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527775451	chr4:56529200-56529201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544784528	chr4:56529298-56529299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541309558	chr4:56529327-56529328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183904538	chr4:56529329-56529330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56515400-56541400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:56525400-56530400	Weak transcription	K562	blood
3	chr4:56526200-56528000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr4:56526600-56530400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr4:56527200-56530600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr4:56527600-56533800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:56527800-56528000	Enhancers	Gastric	stomach
8	chr4:56527800-56534800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:56530400-56530800	Enhancers	K562	blood
10	chr4:56530400-56531000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:56530400-56531200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr4:56530600-56530800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr4:56530600-56531200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr4:56530800-56532000	Weak transcription	K562	blood
15	chr4:56530800-56534600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr4:56531200-56533600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr4:56532000-56533000	Flanking Active TSS	K562	blood
18	chr4:56533000-56535200	Enhancers	K562	blood
19	chr4:56533600-56535200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr4:56533800-56535000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr4:56534000-56535000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr4:56534800-56535000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr4:56534800-56535000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:56534800-56535000	Enhancers	H9 Cell Line	embryonic stem cell
25	chr4:56534800-56535200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:56535000-56536400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr4:56535000-56541200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:56535000-56541400	Weak transcription	H9 Cell Line	embryonic stem cell

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