Variant report

Variant	nsv583237
Chromosome Location	chr2:142592560-142636907
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:142600461..142603381-chr2:142603710..142605716,2	MCF-7	breast:
2	chr2:142596259..142599085-chr2:142603241..142604892,2	K562	blood:
3	chr2:142601107..142603350-chr2:142610818..142614066,3	MCF-7	breast:
4	chr2:142596259..142599085-chr2:142603241..142604892,2	K562	blood:
5	chr2:142615602..142617446-chr2:142626762..142628519,2	MCF-7	breast:
6	chr2:142615602..142617446-chr2:142626762..142628519,2	MCF-7	breast:
7	chr2:142601107..142603350-chr2:142610818..142614066,3	MCF-7	breast:
8	chr18:37319878..37320632-chr2:142591665..142592650,2	MCF-7	breast:
9	chr2:142600461..142603381-chr2:142603710..142605716,2	MCF-7	breast:

No data

Extended variants
information (count: 473 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:473 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536372989	chr2:142599021-142599022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376091591	chr2:142599050-142599051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576421748	chr2:142599111-142599112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538552331	chr2:142599169-142599170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184379922	chr2:142599172-142599173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566560241	chr2:142599206-142599207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370864764	chr2:142599312-142599313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs71417160	chr2:142599323-142599324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189087003	chr2:142599332-142599333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375103040	chr2:142599352-142599353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541202529	chr2:142599368-142599369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561096848	chr2:142599406-142599407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574568565	chr2:142599480-142599481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533691908	chr2:142599496-142599497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574994583	chr2:142599537-142599538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181836522	chr2:142599597-142599598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537214441	chr2:142601422-142601423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370568992	chr2:142601438-142601439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182999012	chr2:142601456-142601457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112152526	chr2:142601461-142601462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576849833	chr2:142601462-142601463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79102265	chr2:142601480-142601481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187674109	chr2:142601501-142601502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552538914	chr2:142601530-142601531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572549654	chr2:142601565-142601566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs193148983	chr2:142601590-142601591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191902242	chr2:142608413-142608414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145453445	chr2:142608459-142608460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35983515	chr2:142608510-142608511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554498333	chr2:142608513-142608514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574460641	chr2:142608551-142608552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs994860	chr2:142608567-142608568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556911702	chr2:142608568-142608569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576380666	chr2:142608582-142608583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545401619	chr2:142608597-142608598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565201183	chr2:142608660-142608661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150905576	chr2:142608689-142608690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199887195	chr2:142608690-142608691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201008288	chr2:142608691-142608692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs70994459	chr2:142608693-142608694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184511803	chr2:142608726-142608727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138078093	chr2:142608729-142608730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs117069114	chr2:142608775-142608776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188424320	chr2:142608781-142608782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10496903	chr2:142608783-142608784	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs533590868	chr2:142608793-142608794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs193222029	chr2:142608794-142608795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs185649385	chr2:142608802-142608803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552625607	chr2:142608804-142608805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565961881	chr2:142608880-142608881	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142599000-142599400	Enhancers	Brain Hippocampus Middle	brain
2	chr2:142599000-142599400	Enhancers	Brain Substantia Nigra	brain
3	chr2:142599000-142599600	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr2:142601400-142601600	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr2:142608400-142609000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:142609000-142613800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:142613600-142614800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:142613800-142614200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:142613800-142614400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:142616200-142616600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:142627000-142627200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:142627400-142628600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:142627800-142628000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:142628200-142629200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:142628400-142628800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr2:142628400-142629400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr2:142628400-142629600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr2:142628600-142629400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr2:142628600-142629800	Enhancers	H9 Cell Line	embryonic stem cell
20	chr2:142628800-142629200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:142629200-142629400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr2:142629200-142629600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr2:142629400-142629800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr2:142629400-142630000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr2:142629400-142630000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr2:142629400-142630200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr2:142629600-142630000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr2:142629600-142630000	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr2:142629600-142630000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr2:142629800-142630000	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr2:142629800-142631000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr2:142630000-142630400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr2:142630000-142631000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr2:142630000-142631200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr2:142630000-142631400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr2:142630000-142631800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr2:142630200-142630600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr2:142630200-142631000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:142630400-142630800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr2:142630600-142631000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr2:142631200-142631400	Enhancers	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links