Variant report

Variant	esv3368799
Chromosome Location	chr1:78587052-78587424
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:78580164..78582715-chr1:78584966..78587634,2	K562	blood:
2	chr1:78469091..78471508-chr1:78586744..78589573,2	K562	blood:

Variant related genes	Relation type
ENSG00000162616	chromatin interactions
ENSG00000273338	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550372278	chr1:78587074-78587075	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs138361557	chr1:78587148-78587149	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs537172441	chr1:78587161-78587162	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs190345324	chr1:78587188-78587189	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs534249855	chr1:78587192-78587193	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs79487147	chr1:78587203-78587204	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs554297154	chr1:78587221-78587222	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs148829656	chr1:78587235-78587236	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs374667852	chr1:78587243-78587244	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs587433	chr1:78587246-78587247	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs578251994	chr1:78587264-78587265	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs539200840	chr1:78587310-78587311	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs621524	chr1:78587321-78587322	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs575276624	chr1:78587337-78587338	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs78192364	chr1:78587340-78587341	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs621178	chr1:78587341-78587342	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78555400-78608600	Weak transcription	Pancreas	Pancrea
2	chr1:78567600-78607200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:78569800-78592600	Weak transcription	Spleen	Spleen
4	chr1:78570800-78589200	Weak transcription	Right Ventricle	heart
5	chr1:78578200-78594200	Weak transcription	Left Ventricle	heart
6	chr1:78580200-78587400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:78580200-78591000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:78580200-78598000	Weak transcription	Aorta	Aorta
9	chr1:78580200-78608600	Weak transcription	HepG2	liver
10	chr1:78584200-78630600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:78584400-78597200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:78585000-78588400	Strong transcription	Fetal Intestine Small	intestine
13	chr1:78585400-78588600	Strong transcription	Fetal Intestine Large	intestine
14	chr1:78585600-78587400	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr1:78585800-78588600	Strong transcription	Duodenum Mucosa	Duodenum
16	chr1:78586400-78608600	Weak transcription	Colonic Mucosa	Colon
17	chr1:78586800-78587200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:78586800-78587400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:78587000-78592000	Weak transcription	Liver	Liver
20	chr1:78587200-78587600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr1:78587200-78587600	Enhancers	Osteobl	bone
22	chr1:78587200-78587800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr1:78587200-78587800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:78587200-78587800	Enhancers	NHDF-Ad	bronchial
25	chr1:78587200-78588200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr1:78587200-78588400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr1:78587200-78588400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr1:78587400-78587600	Enhancers	Stomach Smooth Muscle	stomach
29	chr1:78587400-78587800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr1:78587400-78587800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:78587400-78587800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:78587400-78588200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr1:78587400-78588200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr1:78587400-78588200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr1:78587400-78607200	Weak transcription	Rectal Mucosa Donor 29	rectum

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