Variant report

Variant	esv2762435
Chromosome Location	chr4:56478362-56494039
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:14)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:56460832..56462856-chr4:56478236..56479860,2	MCF-7	breast:
2	chr4:56492997..56495090-chr4:56501850..56503549,2	K562	blood:
3	chr4:56479641..56481239-chr4:56491828..56493480,2	K562	blood:
4	chr4:56479641..56482011-chr4:56491746..56493328,2	K562	blood:
5	chr4:56472523..56475869-chr4:56480434..56484043,4	K562	blood:
6	chr4:56469856..56472454-chr4:56489855..56491752,2	K562	blood:
7	chr4:56474369..56476951-chr4:56481028..56484786,4	K562	blood:
8	chr4:56459697..56462267-chr4:56481406..56483258,2	K562	blood:
9	chr4:56492253..56496567-chr4:56500430..56503372,5	K562	blood:
10	chr4:56479641..56481239-chr4:56491828..56493480,2	K562	blood:
11	chr4:56481534..56484408-chr4:56607415..56610057,2	K562	blood:
12	chr4:56479641..56482011-chr4:56491746..56493328,2	K562	blood:
13	chr4:56481465..56483149-chr4:56595985..56597947,2	K562	blood:
14	chr4:56480747..56484464-chr4:56594012..56597947,4	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NMU-1	chr4:56482505-56482552	NONHSAT096475
2	lnc-NMU-1	chr4:56482505-56482552	NONHSAT096476

No data

Variant related genes	Relation type
ENSG00000109255	chromatin interactions

Extended variants
information (count: 430 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:430 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10026315	chr4:56478362-56478363	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs138047606	chr4:56478370-56478371	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73236162	chr4:56478387-56478388	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs142535787	chr4:56478456-56478457	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs12649925	chr4:56478507-56478508	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs567622301	chr4:56478546-56478547	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs117904526	chr4:56478562-56478563	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs553414895	chr4:56478574-56478575	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs377703234	chr4:56478609-56478610	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188633699	chr4:56478634-56478635	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs180687390	chr4:56478692-56478693	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559156204	chr4:56478693-56478694	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186128675	chr4:56478712-56478713	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544894686	chr4:56478728-56478729	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554635145	chr4:56478729-56478730	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574360710	chr4:56478730-56478731	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150597248	chr4:56478742-56478743	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10026676	chr4:56478752-56478753	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs576817099	chr4:56478782-56478783	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115157187	chr4:56478790-56478791	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190948401	chr4:56478830-56478831	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79165604	chr4:56478890-56478891	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577934699	chr4:56478925-56478926	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs13139100	chr4:56478940-56478941	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs548056365	chr4:56478945-56478946	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139615570	chr4:56478959-56478960	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530094797	chr4:56478962-56478963	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546822794	chr4:56478964-56478965	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566969031	chr4:56478983-56478984	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182394560	chr4:56479009-56479010	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539103591	chr4:56479030-56479031	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552827953	chr4:56479051-56479052	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116815733	chr4:56479100-56479101	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557752719	chr4:56479125-56479126	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77370137	chr4:56479130-56479131	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186532824	chr4:56479133-56479134	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10029142	chr4:56479134-56479135	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs10017749	chr4:56479174-56479175	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs144448863	chr4:56479206-56479207	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374092305	chr4:56479215-56479216	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576886450	chr4:56479223-56479224	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545462965	chr4:56479240-56479241	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527685603	chr4:56479241-56479242	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28485000	chr4:56479278-56479279	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs199790404	chr4:56479289-56479290	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575815167	chr4:56479307-56479308	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139419447	chr4:56479312-56479313	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562009651	chr4:56479339-56479340	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527544383	chr4:56479345-56479346	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546991010	chr4:56479349-56479350	Strong transcription 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
Breast cancer	22522925	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56465400-56479400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:56469800-56481200	Weak transcription	Esophagus	oesophagus
3	chr4:56470400-56478800	Strong transcription	K562	blood
4	chr4:56473600-56491600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr4:56475600-56479000	Enhancers	HMEC	breast
6	chr4:56476200-56485000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:56476400-56478600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:56477600-56478600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:56478000-56478400	Enhancers	Stomach Mucosa	stomach
10	chr4:56478200-56478400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:56478200-56478400	Enhancers	NHEK	skin
12	chr4:56478200-56491600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:56478400-56478600	Flanking Active TSS	NHEK	skin
14	chr4:56478600-56479000	Enhancers	NHEK	skin
15	chr4:56478600-56481200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:56478600-56485000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:56478800-56481000	Weak transcription	K562	blood
18	chr4:56479000-56481200	Weak transcription	NHEK	skin
19	chr4:56479400-56481600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:56481000-56483400	Genic enhancers	K562	blood
21	chr4:56481200-56481600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:56481200-56481600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:56481200-56481600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:56481200-56481600	Enhancers	Esophagus	oesophagus
25	chr4:56481200-56481600	Enhancers	NHEK	skin
26	chr4:56481600-56485200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:56483400-56484200	Enhancers	K562	blood
28	chr4:56483600-56484200	Enhancers	GM12878-XiMat	blood
29	chr4:56484200-56491600	Weak transcription	K562	blood
30	chr4:56484400-56484800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr4:56484800-56485000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr4:56485000-56485200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:56485000-56485400	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr4:56485000-56485400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr4:56485000-56485400	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr4:56485000-56485400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr4:56485000-56485400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:56485200-56485400	Enhancers	H1 Cell Line	embryonic stem cell
39	chr4:56485200-56487600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr4:56485200-56491400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:56485400-56491800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr4:56485400-56491800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr4:56485400-56498000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:56485400-56498400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr4:56489400-56493800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr4:56489400-56498000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr4:56489800-56498200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:56491400-56492200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:56491600-56492400	ZNF genes & repeats	K562	blood
50	chr4:56491600-56492600	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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