Variant report

Variant	nsv874881
Chromosome Location	chr2:113765780-113772596
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	chr2:113764595..113766525-chr2:113767094..113769506,2	K562	blood:
5	chr2:113756435..113758227-chr2:113770315..113771981,2	K562	blood:
6	chr2:113772280..113775208-chr2:113776344..113777930,2	K562	blood:
7	chr2:113765610..113767817-chr2:113769200..113772024,4	K562	blood:

No data

Extended variants
information (count: 231 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:231 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2305151	chr2:113765780-113765781	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs35350093	chr2:113765784-113765785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532610290	chr2:113765823-113765824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552291729	chr2:113765834-113765835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139868862	chr2:113765931-113765932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560816698	chr2:113765934-113765935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs80220986	chr2:113765952-113765953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78249937	chr2:113765954-113765955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75216710	chr2:113765956-113765957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566062346	chr2:113765967-113765968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533883019	chr2:113766002-113766003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547656012	chr2:113766030-113766031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567153267	chr2:113766031-113766032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536065245	chr2:113766041-113766042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555907631	chr2:113766046-113766047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75777136	chr2:113766105-113766106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569424240	chr2:113766149-113766150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538302331	chr2:113766212-113766213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139819948	chr2:113766218-113766219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186839656	chr2:113766223-113766224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75207029	chr2:113766299-113766300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62157667	chr2:113766305-113766306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555263002	chr2:113766328-113766329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs41334144	chr2:113766332-113766333	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs544038359	chr2:113766351-113766352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527935833	chr2:113766384-113766385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563824729	chr2:113766385-113766386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532699301	chr2:113766392-113766393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192135537	chr2:113766393-113766394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181937890	chr2:113766394-113766395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377372505	chr2:113766395-113766396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13394410	chr2:113766396-113766397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567240576	chr2:113766397-113766398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529899424	chr2:113766460-113766461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553712111	chr2:113766486-113766487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549571167	chr2:113766497-113766498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373587205	chr2:113766504-113766505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538386492	chr2:113766532-113766533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544498743	chr2:113766542-113766543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558596449	chr2:113766553-113766554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371585239	chr2:113766653-113766654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145723278	chr2:113766667-113766668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534624730	chr2:113766701-113766702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554563158	chr2:113766793-113766794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575213099	chr2:113766819-113766820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544124944	chr2:113766849-113766850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557628364	chr2:113766885-113766886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs367680690	chr2:113766901-113766902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577498154	chr2:113766902-113766903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546010900	chr2:113766922-113766923	Weak transcription	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	chr2:113764400-113766800	Weak transcription	Esophagus	oesophagus
2	chr2:113765000-113765800	Enhancers	Primary T cells from cord blood	blood
3	chr2:113765200-113765800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr2:113765400-113765800	Enhancers	Fetal Thymus	thymus
5	chr2:113765600-113773000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:113765600-113797400	Weak transcription	Gastric	stomach
7	chr2:113765800-113767200	Weak transcription	Primary T cells from cord blood	blood
8	chr2:113765800-113767200	Weak transcription	Fetal Thymus	thymus
9	chr2:113765800-113773000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr2:113767000-113768000	Enhancers	Thymus	Thymus
11	chr2:113767200-113767400	Enhancers	Primary T cells from cord blood	blood
12	chr2:113767200-113767400	Enhancers	A549	lung
13	chr2:113767200-113768200	Enhancers	Fetal Thymus	thymus
14	chr2:113767200-113768600	Enhancers	Placenta Amnion	Placenta Amnion
15	chr2:113767400-113768000	Weak transcription	Primary T cells from cord blood	blood
16	chr2:113767400-113770200	Weak transcription	A549	lung
17	chr2:113767600-113767800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:113767600-113768200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:113767600-113768200	Enhancers	HMEC	breast
20	chr2:113767600-113770400	Enhancers	K562	blood
21	chr2:113767800-113768200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:113767800-113768200	Enhancers	Osteobl	bone
23	chr2:113768000-113768200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:113768000-113768800	Enhancers	Primary T cells from cord blood	blood
25	chr2:113768000-113769200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:113768200-113770000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:113768200-113770200	Weak transcription	Osteobl	bone
28	chr2:113768200-113770400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:113768200-113773400	Weak transcription	Fetal Thymus	thymus
30	chr2:113768800-113771400	Weak transcription	Primary T cells from cord blood	blood
31	chr2:113769200-113771400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:113770000-113771000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:113770000-113771200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:113770200-113770600	Flanking Active TSS	A549	lung
35	chr2:113770200-113770600	Enhancers	Osteobl	bone
36	chr2:113770200-113771000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr2:113770200-113771000	Enhancers	Stomach Mucosa	stomach
38	chr2:113770400-113770800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:113770400-113770800	Flanking Active TSS	K562	blood
40	chr2:113770400-113771200	Enhancers	NHEK	skin
41	chr2:113770600-113771800	Enhancers	A549	lung
42	chr2:113770800-113771200	Active TSS	K562	blood
43	chr2:113771200-113771400	Flanking Active TSS	K562	blood
44	chr2:113771400-113772000	Enhancers	K562	blood
45	chr2:113771400-113773800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:113772000-113773200	Weak transcription	K562	blood

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