Variant report

Variant	esv3398622
Chromosome Location	chr10:50460546-50464244
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50462244..50464154-chr10:50465883..50467890,2	K562	blood:
2	chr10:50461288..50465074-chr10:50465528..50469172,3	K562	blood:
3	chr10:50448759..50451494-chr10:50463430..50466103,2	K562	blood:
4	chr10:50462897..50464824-chr10:50509332..50512254,2	K562	blood:

Extended variants
information (count: 189 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:189 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77432095	chr10:50460557-50460558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs80125935	chr10:50460569-50460570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200842251	chr10:50460578-50460579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148882236	chr10:50460583-50460584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190927071	chr10:50460606-50460607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74777546	chr10:50460631-50460632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113740295	chr10:50460642-50460643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545824941	chr10:50460670-50460671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs61850217	chr10:50460734-50460735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182586751	chr10:50460736-50460737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543509262	chr10:50460774-50460775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188904177	chr10:50460804-50460805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs61850218	chr10:50460862-50460863	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs550555636	chr10:50460866-50460867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75786845	chr10:50460878-50460879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565581627	chr10:50460911-50460912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374749334	chr10:50460914-50460915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148335935	chr10:50460935-50460936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552627074	chr10:50460961-50460962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192674564	chr10:50460966-50460967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78095024	chr10:50460972-50460973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532806142	chr10:50460977-50460978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115906010	chr10:50461033-50461034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77169193	chr10:50461060-50461061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533284231	chr10:50461070-50461071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554131640	chr10:50461097-50461098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572378257	chr10:50461112-50461113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546063486	chr10:50461136-50461137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142037373	chr10:50461191-50461192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576276229	chr10:50461222-50461223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543647917	chr10:50461227-50461228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561727691	chr10:50461237-50461238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573773633	chr10:50461279-50461280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377412299	chr10:50461289-50461290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182883433	chr10:50461323-50461324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187478469	chr10:50461328-50461329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552806157	chr10:50461329-50461330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372882186	chr10:50461471-50461472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531751007	chr10:50461511-50461512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549952110	chr10:50461512-50461513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs59413662	chr10:50461515-50461516	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs535532121	chr10:50461530-50461531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547610650	chr10:50461571-50461572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370698519	chr10:50461572-50461573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146311188	chr10:50461577-50461578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551878974	chr10:50461608-50461609	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs17009620	chr10:50461617-50461618	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs370319172	chr10:50461633-50461634	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs377497135	chr10:50461636-50461637	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs576417473	chr10:50461664-50461665	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Cancer	21183584	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
Chronic lymphocytic leukemia	21546498	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Schizophrenia	23813976	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	21948486	CNVD
cleft palate	21948486	CNVD
Encephalopathy	21948486	CNVD
Lung cancer	18438408	CNVD
T-cell primary immunodeficiency	21948486	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
speech delay	21948486	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Hypotonia	21948486	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50460200-50461800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:50460600-50460800	Enhancers	Adipose Nuclei	Adipose
3	chr10:50460600-50461000	Enhancers	Right Ventricle	heart
4	chr10:50460600-50461600	Enhancers	Psoas Muscle	Psoas
5	chr10:50460600-50462000	Enhancers	Primary hematopoietic stem cells	blood
6	chr10:50460600-50462400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr10:50460600-50463200	Enhancers	Left Ventricle	heart
8	chr10:50460800-50461000	Enhancers	Fetal Heart	heart
9	chr10:50460800-50461600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr10:50460800-50461600	Weak transcription	Adipose Nuclei	Adipose
11	chr10:50460800-50461600	Enhancers	Fetal Muscle Leg	muscle
12	chr10:50460800-50462000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr10:50460800-50467000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr10:50461000-50462200	Weak transcription	Right Ventricle	heart
15	chr10:50461200-50462400	Enhancers	Primary B cells from cord blood	blood
16	chr10:50461200-50463800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr10:50461200-50464000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr10:50461400-50461800	Enhancers	Duodenum Mucosa	Duodenum
19	chr10:50461400-50462000	Enhancers	Fetal Muscle Trunk	muscle
20	chr10:50461400-50462200	Enhancers	Primary T cells from cord blood	blood
21	chr10:50461400-50462200	Enhancers	Primary T cells fromperipheralblood	blood
22	chr10:50461400-50462800	Enhancers	Dnd41	blood
23	chr10:50461400-50463800	Enhancers	Thymus	Thymus
24	chr10:50461400-50464200	Enhancers	Fetal Thymus	thymus
25	chr10:50461400-50466000	Enhancers	Primary B cells from peripheral blood	blood
26	chr10:50461600-50462000	Bivalent Enhancer	Fetal Heart	heart
27	chr10:50461600-50462600	Weak transcription	Fetal Muscle Leg	muscle
28	chr10:50461600-50462800	Enhancers	Adipose Nuclei	Adipose
29	chr10:50461600-50463200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr10:50461600-50464000	Weak transcription	Psoas Muscle	Psoas
31	chr10:50461800-50462200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
32	chr10:50461800-50462800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
33	chr10:50462000-50462200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
34	chr10:50462000-50462400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr10:50462000-50463200	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr10:50462000-50463200	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr10:50462000-50463200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr10:50462000-50463200	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr10:50462000-50463400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr10:50462000-50463400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr10:50462000-50463400	Enhancers	Spleen	Spleen
42	chr10:50462000-50463600	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr10:50462000-50463600	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr10:50462200-50462400	Bivalent/Poised TSS	Fetal Lung	lung
45	chr10:50462200-50462400	Enhancers	Right Ventricle	heart
46	chr10:50462200-50462600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
47	chr10:50462200-50462800	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr10:50462200-50462800	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr10:50462200-50463200	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr10:50462200-50463200	Enhancers	Duodenum Mucosa	Duodenum

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