Variant report

Variant	nsv874883
Chromosome Location	chr2:113767207-113773301
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113765610..113767817-chr2:113769200..113772024,4	K562	blood:
2	chr2:113768707..113772207-chr2:113772751..113775961,3	K562	blood:
3	chr2:113764595..113766525-chr2:113767094..113769506,2	K562	blood:
4	chr2:113772280..113775208-chr2:113776344..113777930,2	K562	blood:
5	chr2:113765610..113767817-chr2:113769200..113772024,4	K562	blood:
6	chr2:113768707..113772207-chr2:113772751..113775961,3	K562	blood:
7	chr2:113756435..113758227-chr2:113770315..113771981,2	K562	blood:

No data

Extended variants
information (count: 191 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:191 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10211644	chr2:113767207-113767208	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552749185	chr2:113767237-113767238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569540964	chr2:113767352-113767353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201713432	chr2:113767374-113767375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546588725	chr2:113767386-113767387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545731843	chr2:113767412-113767413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552050567	chr2:113767459-113767460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565775994	chr2:113767460-113767461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534373086	chr2:113767467-113767468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187280238	chr2:113767508-113767509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112111397	chr2:113767524-113767525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112346091	chr2:113767527-113767528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs725139	chr2:113767554-113767555	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs557665218	chr2:113767564-113767565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111828735	chr2:113767584-113767585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs725140	chr2:113767587-113767588	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs145504100	chr2:113767611-113767612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191274044	chr2:113767626-113767627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553252469	chr2:113767671-113767672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs118052073	chr2:113767680-113767681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527426512	chr2:113767751-113767752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541956987	chr2:113767786-113767787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561790191	chr2:113767800-113767801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562636015	chr2:113767809-113767810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544170308	chr2:113767862-113767863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563255245	chr2:113767877-113767878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532265013	chr2:113767892-113767893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552350667	chr2:113767912-113767913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183493800	chr2:113767913-113767914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140368390	chr2:113767945-113767946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145459958	chr2:113767947-113767948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568091065	chr2:113767953-113767954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537067385	chr2:113767976-113767977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188388094	chr2:113767978-113767979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541588960	chr2:113768019-113768020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116161940	chr2:113768047-113768048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553580584	chr2:113768075-113768076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148031250	chr2:113768103-113768104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549878887	chr2:113768156-113768157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555460939	chr2:113768172-113768173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571985596	chr2:113768200-113768201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs193249036	chr2:113768219-113768220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544206881	chr2:113768220-113768221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564275694	chr2:113768263-113768264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1867827	chr2:113768402-113768403	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs140800264	chr2:113768458-113768459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs28946268	chr2:113768504-113768505	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs528252300	chr2:113768524-113768525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542017834	chr2:113768535-113768536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561782773	chr2:113768555-113768556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113765600-113773000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr2:113765600-113797400	Weak transcription	Gastric	stomach
3	chr2:113765800-113773000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr2:113767000-113768000	Enhancers	Thymus	Thymus
5	chr2:113767200-113767400	Enhancers	Primary T cells from cord blood	blood
6	chr2:113767200-113767400	Enhancers	A549	lung
7	chr2:113767200-113768200	Enhancers	Fetal Thymus	thymus
8	chr2:113767200-113768600	Enhancers	Placenta Amnion	Placenta Amnion
9	chr2:113767400-113768000	Weak transcription	Primary T cells from cord blood	blood
10	chr2:113767400-113770200	Weak transcription	A549	lung
11	chr2:113767600-113767800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:113767600-113768200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:113767600-113768200	Enhancers	HMEC	breast
14	chr2:113767600-113770400	Enhancers	K562	blood
15	chr2:113767800-113768200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:113767800-113768200	Enhancers	Osteobl	bone
17	chr2:113768000-113768200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:113768000-113768800	Enhancers	Primary T cells from cord blood	blood
19	chr2:113768000-113769200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:113768200-113770000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:113768200-113770200	Weak transcription	Osteobl	bone
22	chr2:113768200-113770400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:113768200-113773400	Weak transcription	Fetal Thymus	thymus
24	chr2:113768800-113771400	Weak transcription	Primary T cells from cord blood	blood
25	chr2:113769200-113771400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:113770000-113771000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:113770000-113771200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:113770200-113770600	Flanking Active TSS	A549	lung
29	chr2:113770200-113770600	Enhancers	Osteobl	bone
30	chr2:113770200-113771000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr2:113770200-113771000	Enhancers	Stomach Mucosa	stomach
32	chr2:113770400-113770800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:113770400-113770800	Flanking Active TSS	K562	blood
34	chr2:113770400-113771200	Enhancers	NHEK	skin
35	chr2:113770600-113771800	Enhancers	A549	lung
36	chr2:113770800-113771200	Active TSS	K562	blood
37	chr2:113771200-113771400	Flanking Active TSS	K562	blood
38	chr2:113771400-113772000	Enhancers	K562	blood
39	chr2:113771400-113773800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:113772000-113773200	Weak transcription	K562	blood
41	chr2:113773000-113774000	Enhancers	Primary T cells from cord blood	blood
42	chr2:113773000-113774000	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr2:113773000-113774000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr2:113773000-113774600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr2:113773200-113773600	Enhancers	K562	blood
46	chr2:113773200-113773800	Enhancers	Primary T cells fromperipheralblood	blood

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