Variant report

Variant	nsv2968
Chromosome Location	chr2:151076820-151089705
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:151081886..151084694-chr2:151342763..151345622,2	MCF-7	breast:
2	chr2:151070416..151072908-chr2:151081382..151084515,3	MCF-7	breast:
3	chr2:151084832..151087423-chr2:151341605..151343873,2	MCF-7	breast:
4	chr2:151084879..151087385-chr2:151088995..151091576,2	MCF-7	breast:
5	chr2:151084879..151087385-chr2:151088995..151091576,2	MCF-7	breast:
6	chr2:151074250..151076893-chr2:151342423..151344982,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LYPD6-12	chr2:151086565-151088372	NONHSAT074922

No data

Variant related genes	Relation type
ENSG00000115963	chromatin interactions

Extended variants
information (count: 390 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4629182	chr2:151076838-151076839	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372942222	chr2:151076878-151076879	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs535517894	chr2:151076888-151076889	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs4481007	chr2:151076905-151076906	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs149113249	chr2:151076917-151076918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4260269	chr2:151076984-151076985	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs537179827	chr2:151076988-151076989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550646993	chr2:151077052-151077053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377195443	chr2:151077074-151077075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567390198	chr2:151077084-151077085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114520985	chr2:151077142-151077143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553248489	chr2:151077160-151077161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74970037	chr2:151077207-151077208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536846739	chr2:151077208-151077209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77155479	chr2:151077262-151077263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373192302	chr2:151077323-151077324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566009976	chr2:151077356-151077357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184561428	chr2:151077420-151077421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543407927	chr2:151077425-151077426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563392797	chr2:151077545-151077546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573733758	chr2:151077580-151077581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536533139	chr2:151077639-151077640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111231002	chr2:151077740-151077741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200183710	chr2:151077741-151077742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13024803	chr2:151077809-151077810	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs528436317	chr2:151077819-151077820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551367755	chr2:151077834-151077835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76884191	chr2:151077857-151077858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115957303	chr2:151077858-151077859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550512235	chr2:151077875-151077876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143164370	chr2:151077924-151077925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376193825	chr2:151077972-151077973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536334518	chr2:151078026-151078027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189107617	chr2:151078027-151078028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181540676	chr2:151078079-151078080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4597551	chr2:151078080-151078081	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs72855788	chr2:151078155-151078156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367836681	chr2:151078218-151078219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs4600677	chr2:151078223-151078224	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs578258304	chr2:151078286-151078287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148198155	chr2:151078306-151078307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185573993	chr2:151078342-151078343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556957232	chr2:151078445-151078446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573822562	chr2:151078448-151078449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7592745	chr2:151078459-151078460	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs553163568	chr2:151078462-151078463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189775419	chr2:151078463-151078464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560100879	chr2:151078474-151078475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545156273	chr2:151078475-151078476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564859848	chr2:151078506-151078507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	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
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151072000-151078800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:151073000-151078800	Weak transcription	Fetal Lung	lung
3	chr2:151073400-151078600	Weak transcription	Stomach Mucosa	stomach
4	chr2:151077200-151077400	Enhancers	Brain Germinal Matrix	brain
5	chr2:151077400-151078200	Weak transcription	Brain Germinal Matrix	brain
6	chr2:151078200-151081200	Enhancers	Brain Germinal Matrix	brain
7	chr2:151078600-151080200	Enhancers	Stomach Mucosa	stomach
8	chr2:151078800-151080600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:151079000-151079400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:151079000-151079600	Enhancers	Fetal Brain Female	brain
11	chr2:151079000-151084600	Weak transcription	Fetal Lung	lung
12	chr2:151079600-151080000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:151079600-151080000	Weak transcription	Fetal Brain Female	brain
14	chr2:151080000-151080200	Enhancers	Fetal Brain Female	brain
15	chr2:151080200-151082400	Weak transcription	Fetal Brain Female	brain
16	chr2:151080200-151084800	Weak transcription	Stomach Mucosa	stomach
17	chr2:151081200-151083000	Weak transcription	Brain Germinal Matrix	brain
18	chr2:151082400-151083200	Enhancers	Fetal Brain Female	brain
19	chr2:151082600-151083200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr2:151083000-151083400	Enhancers	Brain Germinal Matrix	brain
21	chr2:151083200-151091200	Weak transcription	Fetal Brain Female	brain
22	chr2:151083800-151084000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:151083800-151084000	Enhancers	Liver	Liver
24	chr2:151084000-151084800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:151084000-151085200	Weak transcription	Liver	Liver
26	chr2:151084600-151085800	Enhancers	Fetal Lung	lung
27	chr2:151084600-151086400	Enhancers	Brain Germinal Matrix	brain
28	chr2:151084800-151085600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:151084800-151085600	Enhancers	Stomach Mucosa	stomach
30	chr2:151084800-151086000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr2:151085200-151085800	Enhancers	Liver	Liver
32	chr2:151085200-151086200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:151085200-151086400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:151085200-151086400	Enhancers	NHDF-Ad	bronchial
35	chr2:151085400-151085800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:151085400-151086000	Enhancers	HUVEC	blood vessel
37	chr2:151085600-151085800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr2:151085600-151086400	Enhancers	A549	lung
39	chr2:151085600-151086800	Weak transcription	Stomach Mucosa	stomach
40	chr2:151085600-151090600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:151085800-151090400	Weak transcription	Fetal Lung	lung
42	chr2:151085800-151090800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:151086000-151087600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:151086000-151088000	Weak transcription	HUVEC	blood vessel
45	chr2:151086000-151090400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr2:151086200-151086400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:151086200-151089600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:151086400-151088000	Weak transcription	Brain Germinal Matrix	brain
49	chr2:151086400-151089600	Weak transcription	NHDF-Ad	bronchial
50	chr2:151086400-151090400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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