Variant report

Variant	nsv874890
Chromosome Location	chr2:113797677-113808054
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:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113793052..113795828-chr2:113797640..113799974,2	K562	blood:
2	chr2:113798210..113800371-chr2:113830392..113832016,2	MCF-7	breast:
3	chr2:113793052..113795716-chr2:113797814..113799974,2	K562	blood:
4	chr2:113799300..113800125-chr2:113836934..113837726,3	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IL36RN-2	chr2:113799152-113799363	l_1927_chr2:113799151-113802812_thyroid
2	lnc-IL36RN-2	chr2:113799365-113799600	l_1927_chr2:113799151-113802812_thyroid
3	lnc-IL36RN-2	chr2:113802726-113802812	l_1927_chr2:113799151-113802812_thyroid

No data

Extended variants
information (count: 237 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:237 , 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	rs2862774	chr2:113797677-113797678	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs150761350	chr2:113797712-113797713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77516439	chr2:113797741-113797742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528548602	chr2:113797761-113797762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2862775	chr2:113797762-113797763	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs13392105	chr2:113797766-113797767	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs549026167	chr2:113797779-113797780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556428559	chr2:113797819-113797820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576993462	chr2:113797858-113797859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1900289	chr2:113797875-113797876	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs574304909	chr2:113797898-113797899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2862776	chr2:113797924-113797925	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs375926150	chr2:113797938-113797939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572208375	chr2:113797951-113797952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559359938	chr2:113797962-113797963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7557928	chr2:113797968-113797969	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs545099470	chr2:113798009-113798010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7567108	chr2:113798016-113798017	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs574489019	chr2:113798065-113798066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568378019	chr2:113798076-113798077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139245194	chr2:113798093-113798094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375964117	chr2:113798110-113798111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13418757	chr2:113798167-113798168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13418761	chr2:113798178-113798179	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs372925295	chr2:113798221-113798222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35893082	chr2:113798235-113798236	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs12151457	chr2:113798241-113798242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7570058	chr2:113798292-113798293	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs35327148	chr2:113798300-113798301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535363531	chr2:113798306-113798307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548277547	chr2:113798377-113798378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34852794	chr2:113798378-113798379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7570159	chr2:113798388-113798389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs77075994	chr2:113798432-113798433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550699823	chr2:113798460-113798461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569965185	chr2:113798482-113798483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569827684	chr2:113798500-113798501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34702403	chr2:113798561-113798562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs200588299	chr2:113798568-113798569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35734363	chr2:113798581-113798582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs565904553	chr2:113798584-113798585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529228565	chr2:113798603-113798604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374910020	chr2:113798604-113798605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534763728	chr2:113798605-113798606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7570483	chr2:113798659-113798660	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs574439284	chr2:113798662-113798663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35098063	chr2:113798681-113798682	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs556667585	chr2:113798682-113798683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374450671	chr2:113798733-113798734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs60553648	chr2:113798735-113798736	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	chr2:113795800-113797800	Enhancers	Stomach Mucosa	stomach
2	chr2:113796400-113798000	Enhancers	Liver	Liver
3	chr2:113796600-113798000	Enhancers	Fetal Intestine Large	intestine
4	chr2:113797600-113797800	Enhancers	Fetal Intestine Small	intestine
5	chr2:113797600-113798600	Weak transcription	Gastric	stomach
6	chr2:113797800-113799800	Weak transcription	Stomach Mucosa	stomach
7	chr2:113798600-113798800	Enhancers	Gastric	stomach
8	chr2:113804600-113805400	Enhancers	Fetal Intestine Large	intestine
9	chr2:113804600-113805400	Enhancers	Fetal Intestine Small	intestine
10	chr2:113805400-113805600	Weak transcription	Fetal Intestine Small	intestine
11	chr2:113805400-113805800	Weak transcription	Fetal Intestine Large	intestine
12	chr2:113805600-113806000	Enhancers	Fetal Intestine Small	intestine
13	chr2:113805800-113806000	Enhancers	Fetal Intestine Large	intestine
14	chr2:113806000-113808600	Weak transcription	Fetal Intestine Large	intestine
15	chr2:113806000-113809000	Weak transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links