Variant report

Variant	nsv961867
Chromosome Location	chr2:111452410-111457082
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	chr2:111447915..111450882-chr2:111451091..111454468,3	K562	blood:
2	chr2:111450177..111452870-chr2:111458026..111461829,3	K562	blood:

Extended variants
information (count: 121 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75488285	chr2:111452446-111452447	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs577682114	chr2:111452455-111452456	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs544939615	chr2:111452481-111452482	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs185522565	chr2:111452489-111452490	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs533570590	chr2:111452511-111452512	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs6752335	chr2:111452539-111452540	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs143197626	chr2:111452556-111452557	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs148237994	chr2:111452572-111452573	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs548202146	chr2:111452587-111452588	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs116518042	chr2:111452597-111452598	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs113229356	chr2:111452628-111452629	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546108414	chr2:111452629-111452630	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189935798	chr2:111452631-111452632	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141276342	chr2:111452638-111452639	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570269687	chr2:111452662-111452663	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539656520	chr2:111452673-111452674	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563489275	chr2:111452676-111452677	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529285709	chr2:111452685-111452686	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182445078	chr2:111452702-111452703	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145322918	chr2:111452709-111452710	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535467358	chr2:111452726-111452727	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555765329	chr2:111452730-111452731	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368299878	chr2:111452774-111452775	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4396730	chr2:111452781-111452782	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs544875294	chr2:111452810-111452811	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558497134	chr2:111452818-111452819	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs578211411	chr2:111452840-111452841	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189203217	chr2:111452902-111452903	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559163678	chr2:111452913-111452914	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528153708	chr2:111452989-111452990	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541581369	chr2:111453047-111453048	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs372664523	chr2:111453056-111453057	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs191901356	chr2:111453110-111453111	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs183854249	chr2:111453163-111453164	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs1563569	chr2:111453286-111453287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187327090	chr2:111453293-111453294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570457919	chr2:111453308-111453309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191908594	chr2:111453363-111453364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75863637	chr2:111453386-111453387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566567686	chr2:111453500-111453501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535919160	chr2:111453507-111453508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555903984	chr2:111453508-111453509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79662358	chr2:111453533-111453534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183986928	chr2:111453541-111453542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs57961036	chr2:111453548-111453549	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs558488118	chr2:111453615-111453616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs202121599	chr2:111453672-111453673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs578219479	chr2:111454027-111454028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113717353	chr2:111454034-111454035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534239606	chr2:111454209-111454210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Developmental delay	21147756	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	20808228	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111450600-111453000	Enhancers	Fetal Intestine Small	intestine
2	chr2:111451200-111453000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:111451400-111453000	Enhancers	H9 Cell Line	embryonic stem cell
4	chr2:111451400-111453000	Enhancers	Fetal Intestine Large	intestine
5	chr2:111451400-111453200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:111451400-111453200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:111451400-111453200	Enhancers	Primary hematopoietic stem cells	blood
8	chr2:111451400-111453600	Enhancers	Dnd41	blood
9	chr2:111451600-111452800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:111451600-111453000	Enhancers	Ovary	ovary
11	chr2:111451600-111453200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr2:111451600-111453400	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr2:111451800-111453200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:111451800-111453200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:111451800-111453200	Enhancers	Fetal Heart	heart
16	chr2:111452000-111452800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr2:111452000-111453200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr2:111452200-111452600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr2:111452200-111452600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:111452200-111452800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr2:111452200-111453200	Enhancers	Fetal Thymus	thymus
22	chr2:111452200-111453200	Flanking Active TSS	K562	blood
23	chr2:111452400-111452600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:111452400-111452800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:111452400-111452800	Enhancers	Left Ventricle	heart
26	chr2:111452400-111453000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:111452400-111453000	Enhancers	Fetal Lung	lung
28	chr2:111452400-111453200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:111452400-111453200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:111452400-111457000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:111452600-111453000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr2:111452600-111453000	Enhancers	Right Atrium	heart
33	chr2:111452800-111453200	Enhancers	Thymus	Thymus
34	chr2:111453000-111453200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr2:111453000-111453200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:111453200-111453400	Enhancers	K562	blood
37	chr2:111453200-111453600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:111453200-111457000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr2:111453200-111460200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:111453400-111457000	Weak transcription	K562	blood
41	chr2:111457000-111457200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:111457000-111457600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr2:111457000-111457600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr2:111457000-111458400	Enhancers	K562	blood

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