Variant report

Variant	nsv583991
Chromosome Location	chr2:184855828-184954425
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:184940537..184943180-chr2:184944058..184946845,2	MCF-7	breast:
2	chr2:184945352..184948349-chr2:184948501..184950995,2	K562	blood:
3	chr2:184890086..184891661-chr2:184893908..184896038,2	MCF-7	breast:
4	chr2:184941659..184944360-chr2:184947722..184949750,2	K562	blood:
5	chr2:184886126..184889062-chr2:184890662..184893276,2	K562	blood:
6	chr2:184941659..184944360-chr2:184947722..184949750,2	K562	blood:
7	chr2:184889860..184892269-chr2:184894342..184896559,2	K562	blood:
8	chr2:184912047..184914339-chr2:184920251..184922301,2	K562	blood:
9	chr2:184873535..184875305-chr2:184876695..184878448,2	K562	blood:
10	chr2:184859213..184861136-chr2:184869281..184871300,2	MCF-7	breast:
11	chr2:184850093..184852238-chr2:184873808..184876067,2	K562	blood:
12	chr2:184889860..184892269-chr2:184894342..184896559,2	K562	blood:
13	chr2:184945352..184948349-chr2:184948501..184950995,2	K562	blood:
14	chr2:184886126..184889062-chr2:184890662..184893276,2	K562	blood:
15	chr2:184873535..184875305-chr2:184876695..184878448,2	K562	blood:
16	chr2:184940537..184943180-chr2:184944058..184946845,2	MCF-7	breast:
17	chr2:184890086..184891661-chr2:184893908..184896038,2	MCF-7	breast:
18	chr2:184859213..184861136-chr2:184869281..184871300,2	MCF-7	breast:
19	chr2:184912047..184914339-chr2:184920251..184922301,2	K562	blood:

No data

Extended variants
information (count: 2285 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:2285 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6743413	chr2:184855828-184855829	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528881647	chr2:184855841-184855842	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs553081904	chr2:184855859-184855860	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs568718428	chr2:184855867-184855868	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs189937661	chr2:184855908-184855909	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs182148421	chr2:184855912-184855913	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs574188510	chr2:184855947-184855948	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs368821199	chr2:184855990-184855991	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs185743707	chr2:184856031-184856032	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs191605217	chr2:184856056-184856057	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs368216864	chr2:184856086-184856087	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs576405004	chr2:184856127-184856128	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs148730071	chr2:184856155-184856156	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs541481956	chr2:184856157-184856158	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs530823457	chr2:184856158-184856159	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs114391436	chr2:184856163-184856164	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs572328608	chr2:184856176-184856177	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs541299629	chr2:184856182-184856183	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs564284573	chr2:184856185-184856186	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs144597658	chr2:184856282-184856283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543592943	chr2:184856425-184856426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs202137459	chr2:184856450-184856451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115429966	chr2:184856453-184856454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528913068	chr2:184856474-184856475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570642619	chr2:184856482-184856483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs4296393	chr2:184856491-184856492	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs113714111	chr2:184856512-184856513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182952930	chr2:184856522-184856523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566431662	chr2:184856530-184856531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111868545	chr2:184856555-184856556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112787707	chr2:184856562-184856563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369189999	chr2:184856702-184856703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539641117	chr2:184856768-184856769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372281692	chr2:184856884-184856885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145424384	chr2:184856904-184856905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570113810	chr2:184856922-184856923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535550618	chr2:184856956-184856957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555749235	chr2:184856985-184856986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572432262	chr2:184857008-184857009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188793225	chr2:184857010-184857011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79204283	chr2:184857066-184857067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577955365	chr2:184857074-184857075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10183086	chr2:184857093-184857094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192859455	chr2:184857105-184857106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75863079	chr2:184857150-184857151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34224278	chr2:184857226-184857227	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs542321383	chr2:184857227-184857228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559309243	chr2:184857230-184857231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528030124	chr2:184857324-184857325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs4470300	chr2:184857338-184857339	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:212 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184851200-184860400	Weak transcription	Fetal Heart	heart
2	chr2:184855200-184856200	Active TSS	GM12878-XiMat	blood
3	chr2:184856200-184857600	Enhancers	GM12878-XiMat	blood
4	chr2:184856400-184858200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr2:184857000-184858400	Enhancers	Hela-S3	cervix
6	chr2:184857200-184858200	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr2:184857400-184857800	Enhancers	HMEC	breast
8	chr2:184857600-184858000	Flanking Active TSS	GM12878-XiMat	blood
9	chr2:184857600-184858800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:184857800-184858200	Enhancers	Fetal Muscle Trunk	muscle
11	chr2:184857800-184858400	Enhancers	Fetal Muscle Leg	muscle
12	chr2:184858000-184858600	Enhancers	Pancreas	Pancrea
13	chr2:184858000-184862800	Enhancers	GM12878-XiMat	blood
14	chr2:184858200-184858400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr2:184858200-184861800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:184858200-184862800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr2:184858400-184860000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:184858400-184860600	Weak transcription	Hela-S3	cervix
19	chr2:184858400-184861800	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:184858600-184862400	Weak transcription	Pancreas	Pancrea
21	chr2:184858800-184860400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:184859200-184859400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:184859400-184860400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:184859400-184861000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:184859600-184860800	Enhancers	NH-A	brain
26	chr2:184859600-184862400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:184859600-184862600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:184860000-184863000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr2:184860400-184860600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:184860400-184860600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr2:184860400-184860600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:184860400-184860800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:184860400-184860800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr2:184860400-184860800	Enhancers	Fetal Kidney	kidney
35	chr2:184860400-184860800	Enhancers	Fetal Lung	lung
36	chr2:184860400-184861200	Enhancers	Colon Smooth Muscle	Colon
37	chr2:184860400-184861200	Enhancers	Fetal Heart	heart
38	chr2:184860400-184862000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:184860400-184862600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr2:184860400-184863200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:184860400-184864400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr2:184860600-184860800	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr2:184860600-184861200	Enhancers	Hela-S3	cervix
44	chr2:184860600-184861400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:184860600-184863800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr2:184860800-184861600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr2:184860800-184861800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr2:184860800-184862000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr2:184860800-184862000	Weak transcription	Fetal Lung	lung
50	chr2:184860800-184862200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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