Variant report

Variant	esv2762868
Chromosome Location	chr10:55235860-55252387
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	chr10:55228435..55230987-chr10:55235490..55236993,2	K562	blood:

Extended variants
information (count: 667 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:667 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs399287	chr10:55235860-55235861	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147987559	chr10:55235873-55235874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538327700	chr10:55235900-55235901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs399019	chr10:55235946-55235947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143384801	chr10:55235952-55235953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370244	chr10:55235962-55235963	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs554424134	chr10:55235987-55235988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577573626	chr10:55236015-55236016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546183480	chr10:55236070-55236071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs16937446	chr10:55236073-55236074	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs184935229	chr10:55236119-55236120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534870633	chr10:55236200-55236201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555132700	chr10:55236270-55236271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78696799	chr10:55236303-55236304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75422929	chr10:55236311-55236312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188822660	chr10:55236372-55236373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547147172	chr10:55236413-55236414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147136245	chr10:55236442-55236443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140429312	chr10:55236445-55236446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549844310	chr10:55236458-55236459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191990236	chr10:55236478-55236479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569220185	chr10:55236479-55236480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531636141	chr10:55236509-55236510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548623795	chr10:55236520-55236521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184464322	chr10:55236672-55236673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189295258	chr10:55236681-55236682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577276883	chr10:55236689-55236690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4935073	chr10:55236728-55236729	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs142750174	chr10:55236819-55236820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11817199	chr10:55236828-55236829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540116779	chr10:55236835-55236836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10825027	chr10:55236840-55236841	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs528609948	chr10:55236853-55236854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575973069	chr10:55236863-55236864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182040597	chr10:55236898-55236899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554950524	chr10:55236922-55236923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76758867	chr10:55236940-55236941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74380014	chr10:55237015-55237016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11003636	chr10:55237042-55237043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533013755	chr10:55237048-55237049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112131331	chr10:55237052-55237053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563407485	chr10:55237077-55237078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529202247	chr10:55237083-55237084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200583573	chr10:55237093-55237094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs60174882	chr10:55237095-55237096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs398013479	chr10:55237097-55237098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548562769	chr10:55237117-55237118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568468702	chr10:55237136-55237137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1386556	chr10:55237139-55237140	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs547951934	chr10:55237199-55237200	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Intellectual disability	21948486	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55228400-55236000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr10:55233800-55241200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr10:55234000-55239000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr10:55234200-55237800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:55234400-55236000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr10:55234400-55236800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr10:55235000-55236200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:55235000-55239000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr10:55235200-55238200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr10:55235400-55236400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr10:55235600-55236800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr10:55235600-55237800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr10:55236000-55238200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr10:55236000-55238200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr10:55236200-55237000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr10:55236200-55238200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr10:55236400-55240000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr10:55236600-55237400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:55236600-55237400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:55236800-55237400	Enhancers	H1 Cell Line	embryonic stem cell
21	chr10:55236800-55238200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr10:55237000-55237400	Enhancers	H9 Cell Line	embryonic stem cell
23	chr10:55237000-55238200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr10:55237200-55237600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr10:55237400-55238800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr10:55237400-55239000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr10:55237400-55242000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr10:55237400-55244400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr10:55237600-55239000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr10:55237800-55238600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr10:55237800-55238800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr10:55238200-55238600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr10:55238200-55239000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr10:55238200-55239000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr10:55238200-55239200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr10:55238200-55239400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr10:55238200-55239400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr10:55238600-55239800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr10:55238600-55249000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr10:55238800-55239000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr10:55238800-55240200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr10:55239000-55239200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr10:55239000-55239200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr10:55239000-55239400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr10:55239000-55239800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr10:55239000-55239800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr10:55239000-55239800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr10:55239000-55239800	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr10:55239000-55240000	Enhancers	H1 Cell Line	embryonic stem cell
50	chr10:55239000-55240200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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