Variant report

Variant	nsv551021
Chromosome Location	chr10:56933271-57012515
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	chr10:56926801..56928606-chr10:56934525..56937343,2	K562	blood:
2	chr10:56930146..56932824-chr10:56934216..56936608,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZWINT-4	chr10:57007515-57007648	ENSG00000236744.2
2	lnc-ZWINT-4	chr10:57007508-57007648	ENSG00000236744.1

Extended variants
information (count: 628 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:628 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12572873	chr10:56933271-56933272	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183625551	chr10:56933319-56933320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556181701	chr10:56933324-56933325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575751664	chr10:56933339-56933340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376986202	chr10:56933343-56933344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561137052	chr10:56933357-56933358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144088113	chr10:56933360-56933361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544778936	chr10:56933374-56933375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188562982	chr10:56933379-56933380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560801578	chr10:56933406-56933407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs193131632	chr10:56933486-56933487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532500504	chr10:56933541-56933542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147258767	chr10:56933547-56933548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568636508	chr10:56933548-56933549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77952464	chr10:56933553-56933554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374305970	chr10:56933560-56933561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549193944	chr10:56933589-56933590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531706002	chr10:56933690-56933691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548402149	chr10:56933703-56933704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568239274	chr10:56933799-56933800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534102372	chr10:56933804-56933805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554074956	chr10:56933878-56933879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78542572	chr10:56933892-56933893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs9299558	chr10:56933921-56933922	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs539371549	chr10:56933955-56933956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs367941506	chr10:56933986-56933987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537517070	chr10:56934006-56934007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535198604	chr10:56934032-56934033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576127475	chr10:56934036-56934037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79892984	chr10:56934090-56934091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553715636	chr10:56934110-56934111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7092799	chr10:56934129-56934130	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs540538368	chr10:56934160-56934161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560369612	chr10:56934179-56934180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577467175	chr10:56934180-56934181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546222043	chr10:56934200-56934201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562727738	chr10:56934210-56934211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114012476	chr10:56934234-56934235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140719400	chr10:56934243-56934244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34297940	chr10:56934272-56934273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529997462	chr10:56934288-56934289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548674815	chr10:56934347-56934348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561881593	chr10:56934367-56934368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527444312	chr10:56934369-56934370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs377233799	chr10:56934390-56934391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6481148	chr10:56934444-56934445	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs575940114	chr10:56934450-56934451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs6481149	chr10:56934451-56934452	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs183908922	chr10:56934506-56934507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549783127	chr10:56934519-56934520	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
Autism	20858243	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
small cell lung cancer	17426248	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56932800-56934000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr10:56933000-56934000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr10:56933000-56934000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr10:56933000-56934000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr10:56933000-56934400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr10:56933200-56933600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr10:56933600-56934400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr10:56934000-56934200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr10:56934000-56934400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr10:56934000-56934600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr10:56934000-56934600	Enhancers	Fetal Stomach	stomach
12	chr10:56934200-56934400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr10:56934200-56934400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr10:56934200-56934400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr10:56934800-56937200	Weak transcription	Psoas Muscle	Psoas
16	chr10:56943200-56943800	Enhancers	HMEC	breast
17	chr10:56943600-56944000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr10:56943800-56944200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr10:56947200-56947800	Enhancers	Fetal Stomach	stomach
20	chr10:56951000-56951200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr10:56951200-56951600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr10:56961400-56961800	Enhancers	Fetal Stomach	stomach
23	chr10:56961800-56962200	Weak transcription	Fetal Stomach	stomach
24	chr10:56962200-56962400	Enhancers	Fetal Stomach	stomach
25	chr10:56962400-56963400	Weak transcription	Fetal Stomach	stomach
26	chr10:56963600-56963800	Enhancers	Fetal Stomach	stomach
27	chr10:56977800-56978400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr10:56992200-56993600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr10:56992400-56992600	Enhancers	GM12878-XiMat	blood
30	chr10:56992400-56992600	Enhancers	Hela-S3	cervix
31	chr10:56992400-56992800	Active TSS	Stomach Smooth Muscle	stomach
32	chr10:56992400-56993400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr10:56992400-56993400	Active TSS	Duodenum Mucosa	Duodenum
34	chr10:56992600-56993000	Enhancers	Liver	Liver
35	chr10:56992600-56993400	Active TSS	GM12878-XiMat	blood
36	chr10:56992800-56993200	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr10:56993000-56993400	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr10:56993000-56993600	Active TSS	Liver	Liver
39	chr10:56998800-56999800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr10:56999200-56999600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr10:56999200-57000000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr10:56999800-57002200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr10:57002000-57002800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr10:57002200-57002800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr10:57002400-57003200	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr10:57005400-57005600	Enhancers	HUVEC	blood vessel
47	chr10:57005600-57005800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr10:57005600-57006000	Active TSS	Colonic Mucosa	Colon
49	chr10:57005600-57006000	Enhancers	Ovary	ovary
50	chr10:57005600-57006000	Flanking Active TSS	HUVEC	blood vessel

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