Variant report

Variant	nsv979073
Chromosome Location	chr2:99927377-99947554
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:99771234..99772916-chr2:99943492..99946136,2	K562	blood:
2	chr2:99939367..99941723-chr2:99951245..99954484,3	K562	blood:
3	chr2:99935942..99937476-chr2:99951400..99953140,2	K562	blood:
4	chr2:99940620..99944979-chr2:99951072..99952977,3	MCF-7	breast:
5	chr2:99941582..99943327-chr2:99951340..99954189,2	MCF-7	breast:
6	chr2:99936302..99938598-chr2:99944991..99946972,2	MCF-7	breast:
7	chr2:99945014..99949225-chr2:99950035..99954681,7	K562	blood:
8	chr2:99929266..99930984-chr2:99932298..99935090,2	K562	blood:
9	chr2:99936302..99938598-chr2:99944991..99946972,2	MCF-7	breast:
10	chr2:99936407..99940867-chr2:99951245..99954011,3	K562	blood:
11	chr2:99905599..99909122-chr2:99945751..99948599,3	MCF-7	breast:
12	chr2:99929266..99930984-chr2:99932298..99935090,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000273155	chromatin interactions
ENSG00000158417	chromatin interactions
ENSG00000135951	chromatin interactions
ENSG00000115514	chromatin interactions
ENSG00000144182	chromatin interactions

Extended variants
information (count: 706 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:706 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562989761	chr2:99927388-99927389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115270120	chr2:99927392-99927393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548740028	chr2:99927406-99927407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568640286	chr2:99927416-99927417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192678822	chr2:99927445-99927446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377498788	chr2:99927464-99927465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185730534	chr2:99927481-99927482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75694210	chr2:99927494-99927495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112705516	chr2:99927495-99927496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566031380	chr2:99927505-99927506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548066890	chr2:99927556-99927557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368301333	chr2:99927568-99927569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571161896	chr2:99927571-99927572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539412114	chr2:99927595-99927596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144639797	chr2:99927596-99927597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34305747	chr2:99927621-99927622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576068103	chr2:99927632-99927633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535175305	chr2:99927638-99927639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555059589	chr2:99927639-99927640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571869343	chr2:99927645-99927646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139661562	chr2:99927663-99927664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75682100	chr2:99927681-99927682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535892771	chr2:99927699-99927700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577556604	chr2:99927718-99927719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145267061	chr2:99927795-99927796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562769930	chr2:99927875-99927876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147617321	chr2:99927888-99927889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370369616	chr2:99927891-99927892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142383485	chr2:99927912-99927913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572575748	chr2:99927933-99927934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545993015	chr2:99927980-99927981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528412619	chr2:99928012-99928013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562170988	chr2:99928019-99928020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190484837	chr2:99928025-99928026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192939249	chr2:99928052-99928053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576219333	chr2:99928071-99928072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372189910	chr2:99928120-99928121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374764920	chr2:99928122-99928123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs386648487	chr2:99928127-99928128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539775719	chr2:99928170-99928171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550474487	chr2:99928221-99928222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543329223	chr2:99928255-99928256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562060439	chr2:99928271-99928272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528846295	chr2:99928303-99928304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184245940	chr2:99928331-99928332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139467498	chr2:99928422-99928423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs56202312	chr2:99928423-99928424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs386390721	chr2:99928430-99928431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs397741509	chr2:99928432-99928433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554998395	chr2:99928471-99928472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Medulloblastoma	20607354	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
Ovarian cancer	21781307	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
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:541 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99879000-99933600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr2:99892400-99935000	Weak transcription	Brain Angular Gyrus	brain
3	chr2:99894200-99934800	Weak transcription	Gastric	stomach
4	chr2:99895400-99935000	Weak transcription	Pancreas	Pancrea
5	chr2:99895800-99933600	Weak transcription	HSMM	muscle
6	chr2:99895800-99933600	Weak transcription	HSMMtube	muscle
7	chr2:99896800-99933400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:99897000-99933600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:99897200-99933800	Weak transcription	Fetal Intestine Small	intestine
10	chr2:99897400-99933800	Weak transcription	HepG2	liver
11	chr2:99898200-99934000	Weak transcription	Small Intestine	intestine
12	chr2:99898400-99938600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:99898600-99933800	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:99899400-99933800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:99899600-99933000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:99899800-99935000	Weak transcription	Esophagus	oesophagus
17	chr2:99900000-99933600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr2:99900400-99933800	Weak transcription	Colonic Mucosa	Colon
19	chr2:99901200-99933400	Weak transcription	Primary B cells from cord blood	blood
20	chr2:99901200-99936600	Weak transcription	Fetal Brain Male	brain
21	chr2:99901600-99933400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:99901600-99933600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:99901600-99933600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:99901600-99933800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr2:99901600-99933800	Weak transcription	Fetal Intestine Large	intestine
26	chr2:99901600-99941200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:99907800-99933800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr2:99908000-99934200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:99908400-99933600	Weak transcription	A549	lung
30	chr2:99912400-99933600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:99913400-99933600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr2:99914800-99933800	Weak transcription	Lung	lung
33	chr2:99915000-99933400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:99915000-99933600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:99915000-99933600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:99915000-99942800	Weak transcription	Aorta	Aorta
37	chr2:99915200-99933600	Weak transcription	Thymus	Thymus
38	chr2:99915600-99933600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:99916000-99935000	Weak transcription	Hela-S3	cervix
40	chr2:99916800-99933400	Weak transcription	Fetal Thymus	thymus
41	chr2:99917200-99934200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:99917200-99948200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr2:99919000-99933600	Weak transcription	Brain Germinal Matrix	brain
44	chr2:99919000-99933800	Weak transcription	Spleen	Spleen
45	chr2:99919000-99935000	Weak transcription	Right Ventricle	heart
46	chr2:99919200-99933400	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr2:99919200-99933400	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr2:99919200-99933600	Weak transcription	Adipose Nuclei	Adipose
49	chr2:99919200-99933600	Weak transcription	Brain Anterior Caudate	brain
50	chr2:99919200-99933600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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