Variant report

Variant	nsv526843
Chromosome Location	chr10:50570544-50585177
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:50571360..50573134-chr10:50577043..50579272,2	K562	blood:
2	chr10:50578807..50581361-chr10:50585361..50588030,3	K562	blood:
3	chr10:50576804..50578658-chr10:50581839..50584032,2	K562	blood:
4	chr10:50562650..50564332-chr10:50576069..50577955,2	K562	blood:
5	chr10:50582554..50584087-chr10:50604119..50606052,2	K562	blood:
6	chr10:50539771..50543599-chr10:50573240..50575854,3	MCF-7	breast:
7	chr10:50567042..50568953-chr10:50570259..50573072,2	K562	blood:
8	chr10:50568721..50570423-chr10:50572921..50575797,2	MCF-7	breast:
9	chr10:50543283..50544862-chr10:50573036..50574648,2	K562	blood:
10	chr10:50574270..50576056-chr10:50577984..50580531,2	K562	blood:
11	chr10:50576804..50578658-chr10:50581839..50584032,2	K562	blood:
12	chr10:50575926..50578521-chr10:50603618..50605883,2	K562	blood:
13	chr10:50571360..50573134-chr10:50577043..50579272,2	K562	blood:
14	chr10:50387072..50388785-chr10:50574135..50575972,2	K562	blood:
15	chr10:50573631..50576254-chr10:50580837..50582443,2	K562	blood:
16	chr10:50185577..50187272-chr10:50575569..50577378,2	MCF-7	breast:
17	chr10:50574270..50576056-chr10:50577984..50580531,2	K562	blood:
18	chr10:50573631..50576254-chr10:50580837..50582443,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000128815	chromatin interactions

Extended variants
information (count: 421 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3849153	chr10:50570544-50570545	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377750764	chr10:50570580-50570581	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs545031207	chr10:50570581-50570582	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs534544751	chr10:50570600-50570601	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs558862970	chr10:50570613-50570614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138494470	chr10:50570632-50570633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs193159366	chr10:50570656-50570657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564935675	chr10:50570674-50570675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556197596	chr10:50570688-50570689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527286966	chr10:50570774-50570775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184596755	chr10:50570782-50570783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373324790	chr10:50570787-50570788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560572602	chr10:50570816-50570817	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs143047165	chr10:50570857-50570858	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs546104305	chr10:50570935-50570936	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs547499571	chr10:50570959-50570960	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs564390540	chr10:50571022-50571023	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs531496429	chr10:50571041-50571042	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs542833210	chr10:50571058-50571059	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs550006210	chr10:50571111-50571112	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs190016462	chr10:50571121-50571122	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs17009943	chr10:50571123-50571124	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs180846807	chr10:50571169-50571170	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs547063703	chr10:50571224-50571225	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs565699422	chr10:50571225-50571226	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs113773287	chr10:50571263-50571264	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs139906243	chr10:50571294-50571295	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs570819498	chr10:50571309-50571310	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs375350564	chr10:50571328-50571329	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs538002807	chr10:50571331-50571332	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs76167951	chr10:50571358-50571359	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs186197982	chr10:50571359-50571360	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs535977467	chr10:50571363-50571364	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs59660948	chr10:50571392-50571393	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs397974585	chr10:50571395-50571396	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs553857000	chr10:50571441-50571442	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs572373361	chr10:50571487-50571488	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs545888721	chr10:50571503-50571504	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs564329280	chr10:50571504-50571505	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs576454920	chr10:50571537-50571538	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs543283120	chr10:50571599-50571600	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs561898325	chr10:50571600-50571601	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs144515511	chr10:50571615-50571616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189268092	chr10:50571655-50571656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549118185	chr10:50571658-50571659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559197908	chr10:50571681-50571682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532898904	chr10:50571704-50571705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550963915	chr10:50571717-50571718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570805596	chr10:50571725-50571726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148428118	chr10:50571727-50571728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50567200-50571600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr10:50567600-50572000	Enhancers	Pancreas	Pancrea
3	chr10:50568000-50570600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr10:50568800-50573400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr10:50569000-50571000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:50569400-50570600	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr10:50569400-50575600	Weak transcription	Right Atrium	heart
8	chr10:50569600-50571600	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr10:50569600-50575800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:50569600-50577200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr10:50569800-50572000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr10:50569800-50572200	Enhancers	GM12878-XiMat	blood
13	chr10:50570000-50571000	Weak transcription	Lung	lung
14	chr10:50570000-50571200	Enhancers	Primary B cells from peripheral blood	blood
15	chr10:50570200-50572400	Enhancers	HepG2	liver
16	chr10:50570200-50575600	Weak transcription	Right Ventricle	heart
17	chr10:50570400-50570600	Bivalent Enhancer	Placenta	Placenta
18	chr10:50570400-50571200	Enhancers	Left Ventricle	heart
19	chr10:50570800-50571600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr10:50571000-50571200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr10:50571000-50571200	Enhancers	Spleen	Spleen
22	chr10:50571000-50571600	Enhancers	Lung	lung
23	chr10:50571200-50575600	Weak transcription	Left Ventricle	heart
24	chr10:50571600-50573800	Weak transcription	Lung	lung
25	chr10:50573000-50573200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr10:50573200-50573400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr10:50573400-50573600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr10:50573600-50576000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr10:50573800-50575200	Enhancers	Lung	lung
30	chr10:50575200-50575600	Weak transcription	Lung	lung
31	chr10:50575400-50576000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr10:50575600-50575800	Enhancers	Right Atrium	heart
33	chr10:50575600-50576200	Enhancers	Fetal Heart	heart
34	chr10:50575600-50576200	Enhancers	Left Ventricle	heart
35	chr10:50575600-50576200	Enhancers	Lung	lung
36	chr10:50575600-50576600	Enhancers	Right Ventricle	heart
37	chr10:50575800-50576200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr10:50575800-50577200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr10:50576000-50576200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr10:50576600-50576800	Enhancers	H9 Cell Line	embryonic stem cell
41	chr10:50576800-50577400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr10:50577000-50577600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr10:50577000-50578200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr10:50577200-50578200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr10:50577200-50578200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr10:50577200-50578200	Enhancers	HUVEC	blood vessel
47	chr10:50577400-50577800	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr10:50577600-50578200	Enhancers	NH-A	brain
49	chr10:50580000-50580400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr10:50581600-50581800	Bivalent/Poised TSS	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links