Variant report

Variant	nsv874885
Chromosome Location	chr2:113783671-113807021
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:16)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113798210..113800371-chr2:113830392..113832016,2	MCF-7	breast:
2	chr2:113793052..113795716-chr2:113797814..113799974,2	K562	blood:
3	chr2:113780916..113783936-chr2:113784891..113788063,3	K562	blood:
4	chr2:113787918..113790326-chr2:113790543..113792272,2	K562	blood:
5	chr2:113793052..113795828-chr2:113797640..113799974,2	K562	blood:
6	chr2:113793052..113795828-chr2:113797640..113799974,2	K562	blood:
7	chr2:113778463..113780634-chr2:113785926..113787939,2	K562	blood:
8	chr2:113756681..113759563-chr2:113795115..113796939,2	K562	blood:
9	chr2:113780916..113783936-chr2:113784891..113788063,3	K562	blood:
10	chr2:113783308..113785496-chr2:113859817..113861348,2	K562	blood:
11	chr2:113799300..113800125-chr2:113836934..113837726,3	MCF-7	breast:
12	chr2:113793052..113795716-chr2:113797814..113799974,2	K562	blood:
13	chr2:113716174..113716685-chr2:113789552..113790103,2	MCF-7	breast:
14	chr2:113778463..113783936-chr2:113784891..113788081,5	K562	blood:
15	chr2:113778463..113783936-chr2:113784891..113788081,5	K562	blood:
16	chr2:113787918..113790326-chr2:113790543..113792272,2	K562	blood:

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

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

No data

Extended variants
information (count: 782 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:782 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13429363	chr2:113783671-113783672	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs199600636	chr2:113783678-113783679	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533297382	chr2:113783691-113783692	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538231096	chr2:113783693-113783694	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149018377	chr2:113783705-113783706	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145876354	chr2:113783729-113783730	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535641311	chr2:113783733-113783734	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548863506	chr2:113783738-113783739	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138440701	chr2:113783743-113783744	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201657963	chr2:113783787-113783788	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200073822	chr2:113783802-113783803	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150424975	chr2:113783803-113783804	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376499803	chr2:113783812-113783813	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190231532	chr2:113783831-113783832	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375148549	chr2:113783850-113783851	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533516809	chr2:113783856-113783857	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554454182	chr2:113783882-113783883	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141362488	chr2:113783907-113783908	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6744874	chr2:113783909-113783910	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs368355617	chr2:113783920-113783921	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74837372	chr2:113783935-113783936	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34724005	chr2:113783942-113783943	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552384378	chr2:113784034-113784035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565340952	chr2:113784114-113784115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527708895	chr2:113784173-113784174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547427491	chr2:113784208-113784209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560404140	chr2:113784219-113784220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182817062	chr2:113784223-113784224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372903421	chr2:113784236-113784237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549190390	chr2:113784246-113784247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568696532	chr2:113784251-113784252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34345011	chr2:113784261-113784262	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs551084077	chr2:113784264-113784265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554627070	chr2:113784268-113784269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35377570	chr2:113784289-113784290	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs34976770	chr2:113784390-113784391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553481867	chr2:113784408-113784409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574323301	chr2:113784445-113784446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536521796	chr2:113784457-113784458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187462059	chr2:113784466-113784467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576723280	chr2:113784472-113784473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545587188	chr2:113784604-113784605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565381620	chr2:113784629-113784630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148328153	chr2:113784632-113784633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541454278	chr2:113784677-113784678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561122204	chr2:113784691-113784692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529222403	chr2:113784702-113784703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549024753	chr2:113784703-113784704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530315455	chr2:113784753-113784754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554321980	chr2:113784757-113784758	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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113765600-113797400	Weak transcription	Gastric	stomach
2	chr2:113782800-113785800	Weak transcription	K562	blood
3	chr2:113783000-113784000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
4	chr2:113783600-113784000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:113785200-113786400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:113785400-113786000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
7	chr2:113785600-113786000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:113785600-113786200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr2:113785600-113786200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:113785800-113786200	Enhancers	H9 Cell Line	embryonic stem cell
11	chr2:113785800-113787400	Enhancers	K562	blood
12	chr2:113786000-113786600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr2:113787400-113788400	Weak transcription	K562	blood
14	chr2:113788400-113789000	Enhancers	K562	blood
15	chr2:113789000-113789400	Weak transcription	K562	blood
16	chr2:113789400-113792600	Enhancers	K562	blood
17	chr2:113789600-113789800	Enhancers	Esophagus	oesophagus
18	chr2:113789800-113790000	Flanking Active TSS	Esophagus	oesophagus
19	chr2:113790000-113790400	Active TSS	Esophagus	oesophagus
20	chr2:113790200-113790400	Enhancers	Stomach Mucosa	stomach
21	chr2:113790600-113794200	Weak transcription	Stomach Mucosa	stomach
22	chr2:113794200-113794800	Enhancers	Stomach Mucosa	stomach
23	chr2:113794400-113794600	Enhancers	Esophagus	oesophagus
24	chr2:113794400-113794800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:113794600-113794800	Bivalent/Poised TSS	Lung	lung
26	chr2:113794800-113795800	Weak transcription	Stomach Mucosa	stomach
27	chr2:113795400-113795800	Enhancers	Brain Germinal Matrix	brain
28	chr2:113795800-113796200	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr2:113795800-113796400	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr2:113795800-113797800	Enhancers	Stomach Mucosa	stomach
31	chr2:113796200-113797600	Enhancers	Pancreas	Pancrea
32	chr2:113796400-113796800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr2:113796400-113798000	Enhancers	Liver	Liver
34	chr2:113796600-113796800	Enhancers	Fetal Intestine Small	intestine
35	chr2:113796600-113798000	Enhancers	Fetal Intestine Large	intestine
36	chr2:113796800-113797200	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr2:113796800-113797400	Enhancers	HepG2	liver
38	chr2:113796800-113797600	Enhancers	Fetal Lung	lung
39	chr2:113797400-113797600	Enhancers	Gastric	stomach
40	chr2:113797600-113797800	Enhancers	Fetal Intestine Small	intestine
41	chr2:113797600-113798600	Weak transcription	Gastric	stomach
42	chr2:113797800-113799800	Weak transcription	Stomach Mucosa	stomach
43	chr2:113798600-113798800	Enhancers	Gastric	stomach
44	chr2:113804600-113805400	Enhancers	Fetal Intestine Large	intestine
45	chr2:113804600-113805400	Enhancers	Fetal Intestine Small	intestine
46	chr2:113805400-113805600	Weak transcription	Fetal Intestine Small	intestine
47	chr2:113805400-113805800	Weak transcription	Fetal Intestine Large	intestine
48	chr2:113805600-113806000	Enhancers	Fetal Intestine Small	intestine
49	chr2:113805800-113806000	Enhancers	Fetal Intestine Large	intestine
50	chr2:113806000-113808600	Weak transcription	Fetal Intestine Large	intestine

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