Variant report

Variant	nsv874887
Chromosome Location	chr2:113796666-113799681
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	chr2:113793052..113795716-chr2:113797814..113799974,2	K562	blood:
2	chr2:113793052..113795828-chr2:113797640..113799974,2	K562	blood:
3	chr2:113756681..113759563-chr2:113795115..113796939,2	K562	blood:
4	chr2:113798210..113800371-chr2:113830392..113832016,2	MCF-7	breast:
5	chr2:113799300..113800125-chr2:113836934..113837726,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IL36RN-2	chr2:113799365-113799600	l_1927_chr2:113799151-113802812_thyroid
2	lnc-IL36RN-2	chr2:113799152-113799363	l_1927_chr2:113799151-113802812_thyroid

No data

Extended variants
information (count: 123 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1374280	chr2:113796666-113796667	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs113819754	chr2:113796673-113796674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573595269	chr2:113796697-113796698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79613977	chr2:113796698-113796699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556306562	chr2:113796704-113796705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76075666	chr2:113796707-113796708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143757145	chr2:113796740-113796741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564778732	chr2:113796778-113796779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188123999	chr2:113796801-113796802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541020857	chr2:113796837-113796838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561616229	chr2:113796840-113796841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376899039	chr2:113796855-113796856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547177788	chr2:113796950-113796951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530398068	chr2:113796954-113796955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554811096	chr2:113796987-113796988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191805528	chr2:113797113-113797114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570248337	chr2:113797124-113797125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143176485	chr2:113797142-113797143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533309491	chr2:113797150-113797151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552644362	chr2:113797157-113797158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565825700	chr2:113797172-113797173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534742889	chr2:113797193-113797194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549828034	chr2:113797242-113797243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1446508	chr2:113797261-113797262	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs184347153	chr2:113797267-113797268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535087647	chr2:113797284-113797285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189249733	chr2:113797315-113797316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536561174	chr2:113797362-113797363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556154094	chr2:113797384-113797385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148263369	chr2:113797423-113797424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2862773	chr2:113797444-113797445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372807927	chr2:113797445-113797446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74997617	chr2:113797446-113797447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34015028	chr2:113797447-113797448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs3049662	chr2:113797449-113797450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558662007	chr2:113797464-113797465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572171644	chr2:113797492-113797493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541057455	chr2:113797537-113797538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1900287	chr2:113797565-113797566	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs529680630	chr2:113797595-113797596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112788078	chr2:113797631-113797632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1900288	chr2:113797645-113797646	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs2862774	chr2:113797677-113797678	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs150761350	chr2:113797712-113797713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77516439	chr2:113797741-113797742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528548602	chr2:113797761-113797762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2862775	chr2:113797762-113797763	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs13392105	chr2:113797766-113797767	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs549026167	chr2:113797779-113797780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556428559	chr2:113797819-113797820	Enhancers 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	17122850	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113765600-113797400	Weak transcription	Gastric	stomach
2	chr2:113795800-113797800	Enhancers	Stomach Mucosa	stomach
3	chr2:113796200-113797600	Enhancers	Pancreas	Pancrea
4	chr2:113796400-113796800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr2:113796400-113798000	Enhancers	Liver	Liver
6	chr2:113796600-113796800	Enhancers	Fetal Intestine Small	intestine
7	chr2:113796600-113798000	Enhancers	Fetal Intestine Large	intestine
8	chr2:113796800-113797200	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr2:113796800-113797400	Enhancers	HepG2	liver
10	chr2:113796800-113797600	Enhancers	Fetal Lung	lung
11	chr2:113797400-113797600	Enhancers	Gastric	stomach
12	chr2:113797600-113797800	Enhancers	Fetal Intestine Small	intestine
13	chr2:113797600-113798600	Weak transcription	Gastric	stomach
14	chr2:113797800-113799800	Weak transcription	Stomach Mucosa	stomach
15	chr2:113798600-113798800	Enhancers	Gastric	stomach

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