Variant report

Variant	nsv895464
Chromosome Location	chr10:56920839-57019821
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:56930146..56932824-chr10:56934216..56936608,2	K562	blood:
2	chr10:56926801..56928606-chr10:56934525..56937343,2	K562	blood:
3	chr10:56926801..56928606-chr10:56934525..56937343,2	K562	blood:
4	chr10:56930146..56932824-chr10:56934216..56936608,2	K562	blood:
5	chr10:57012609..57015608-chr6:34209555..34212466,2	K562	blood:

(count:2 , 50 per page) page: 1

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

No data

Extended variants
information (count: 752 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:752 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2589452	chr10:56920839-56920840	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2589453	chr10:56920872-56920873	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs556661971	chr10:56920892-56920893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145806612	chr10:56920919-56920920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1857442	chr10:56920952-56920953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563603504	chr10:56920970-56920971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183704936	chr10:56920979-56920980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140741273	chr10:56920981-56920982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575384217	chr10:56920993-56920994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145894831	chr10:56921008-56921009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11814356	chr10:56921126-56921127	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs186873952	chr10:56921174-56921175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540497766	chr10:56921183-56921184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191238120	chr10:56921195-56921196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184201289	chr10:56921221-56921222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545860567	chr10:56921273-56921274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71185278	chr10:56921284-56921285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2680314	chr10:56921285-56921286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548322314	chr10:56921295-56921296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567833262	chr10:56921315-56921316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530260595	chr10:56921326-56921327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs55812384	chr10:56921338-56921339	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs544583137	chr10:56921360-56921361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539022371	chr10:56921418-56921419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185386242	chr10:56921431-56921432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189934648	chr10:56921432-56921433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370753298	chr10:56921444-56921445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530092009	chr10:56921459-56921460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143219392	chr10:56921552-56921553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182460845	chr10:56921566-56921567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186152953	chr10:56921579-56921580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540093677	chr10:56921659-56921660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188176998	chr10:56921662-56921663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs180706396	chr10:56921669-56921670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546129423	chr10:56921733-56921734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185049217	chr10:56921740-56921741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531356017	chr10:56921759-56921760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556514435	chr10:56921793-56921794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576377441	chr10:56921806-56921807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367651301	chr10:56921816-56921817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541925839	chr10:56921821-56921822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116857356	chr10:56921851-56921852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191612513	chr10:56921861-56921862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546926995	chr10:56921915-56921916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141456470	chr10:56921959-56921960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532658982	chr10:56921961-56921962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs17610038	chr10:56921978-56921979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568888362	chr10:56922037-56922038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181202467	chr10:56922042-56922043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368057725	chr10:56922074-56922075	Enhancers Weak transcription	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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56920000-56921800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr10:56920200-56921400	Enhancers	HMEC	breast
3	chr10:56920400-56921200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr10:56920400-56921600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr10:56920600-56921800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr10:56920800-56922400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr10:56921200-56921600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr10:56921600-56922800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr10:56922200-56922400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr10:56922400-56922600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr10:56932200-56932600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr10:56932200-56932800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr10:56932200-56933000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr10:56932200-56933200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr10:56932600-56933000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr10:56932600-56933000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr10:56932800-56933000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr10:56932800-56934000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr10:56933000-56934000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr10:56933000-56934000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr10:56933000-56934000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr10:56933000-56934400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr10:56933200-56933600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr10:56933600-56934400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr10:56934000-56934200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr10:56934000-56934400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr10:56934000-56934600	Enhancers	H9 Cell Line	embryonic stem cell
28	chr10:56934000-56934600	Enhancers	Fetal Stomach	stomach
29	chr10:56934200-56934400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr10:56934200-56934400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr10:56934200-56934400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr10:56934800-56937200	Weak transcription	Psoas Muscle	Psoas
33	chr10:56943200-56943800	Enhancers	HMEC	breast
34	chr10:56943600-56944000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr10:56943800-56944200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr10:56947200-56947800	Enhancers	Fetal Stomach	stomach
37	chr10:56951000-56951200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr10:56951200-56951600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr10:56961400-56961800	Enhancers	Fetal Stomach	stomach
40	chr10:56961800-56962200	Weak transcription	Fetal Stomach	stomach
41	chr10:56962200-56962400	Enhancers	Fetal Stomach	stomach
42	chr10:56962400-56963400	Weak transcription	Fetal Stomach	stomach
43	chr10:56963600-56963800	Enhancers	Fetal Stomach	stomach
44	chr10:56977800-56978400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr10:56992200-56993600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr10:56992400-56992600	Enhancers	GM12878-XiMat	blood
47	chr10:56992400-56992600	Enhancers	Hela-S3	cervix
48	chr10:56992400-56992800	Active TSS	Stomach Smooth Muscle	stomach
49	chr10:56992400-56993400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr10:56992400-56993400	Active TSS	Duodenum Mucosa	Duodenum

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