Variant report

Variant	nsv971919
Chromosome Location	chr10:54894181-54908155
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 371 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190835394	chr10:54894197-54894198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565455890	chr10:54894262-54894263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183962691	chr10:54894286-54894287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542868595	chr10:54894316-54894317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35377335	chr10:54894349-54894350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200440424	chr10:54894407-54894408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573092920	chr10:54894427-54894428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545146450	chr10:54894448-54894449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185938381	chr10:54894511-54894512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376631560	chr10:54894512-54894513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190715842	chr10:54894524-54894525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182955711	chr10:54894535-54894536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187007705	chr10:54894609-54894610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141986875	chr10:54894618-54894619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532564133	chr10:54894654-54894655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549287121	chr10:54894675-54894676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565926747	chr10:54894685-54894686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191846984	chr10:54894707-54894708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569717881	chr10:54894744-54894745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551532727	chr10:54894748-54894749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571272074	chr10:54894763-54894764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537124026	chr10:54894802-54894803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552250955	chr10:54894803-54894804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369838498	chr10:54894837-54894838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374374866	chr10:54894845-54894846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573540820	chr10:54894846-54894847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536589213	chr10:54894956-54894957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553249910	chr10:54894961-54894962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs16937232	chr10:54894965-54894966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377695305	chr10:54894976-54894977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182724342	chr10:54895007-54895008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187451372	chr10:54895009-54895010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370153474	chr10:54895055-54895056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575651864	chr10:54895105-54895106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139318029	chr10:54895141-54895142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113937857	chr10:54895186-54895187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs193220701	chr10:54895194-54895195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185497765	chr10:54895216-54895217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371438279	chr10:54895219-54895220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528374852	chr10:54895274-54895275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190757264	chr10:54895284-54895285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559668105	chr10:54895297-54895298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149576021	chr10:54895302-54895303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548408113	chr10:54895369-54895370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144046693	chr10:54895375-54895376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571376682	chr10:54895396-54895397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192312615	chr10:54895410-54895411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs115836073	chr10:54895417-54895418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567197234	chr10:54895461-54895462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148674360	chr10:54895466-54895467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:54891600-54894400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr10:54893400-54895000	Enhancers	HUVEC	blood vessel
3	chr10:54893800-54900000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr10:54894000-54896200	Enhancers	HepG2	liver
5	chr10:54894400-54898000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr10:54894800-54895600	Enhancers	Fetal Intestine Large	intestine
7	chr10:54894800-54895800	Enhancers	Fetal Intestine Small	intestine
8	chr10:54895800-54900600	Weak transcription	Fetal Intestine Small	intestine
9	chr10:54898000-54898400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr10:54898400-54900000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr10:54899800-54900400	Enhancers	NHEK	skin
12	chr10:54900000-54900600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr10:54900000-54900800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr10:54900000-54901200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr10:54900400-54900800	Enhancers	Placenta	Placenta
16	chr10:54900600-54900800	Enhancers	Fetal Intestine Small	intestine
17	chr10:54900800-54902600	Weak transcription	Fetal Intestine Small	intestine
18	chr10:54902200-54902600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr10:54902600-54903200	Enhancers	Fetal Intestine Small	intestine

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