Variant report

Variant	nsv962120
Chromosome Location	chr2:183486499-183495489
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:183485446..183488008-chr2:183493899..183496895,2	K562	blood:
2	chr2:183485234..183486908-chr2:183488749..183490647,2	K562	blood:
3	chr2:183485234..183486908-chr2:183488749..183490647,2	K562	blood:
4	chr2:183484463..183486734-chr2:183489147..183491693,3	K562	blood:
5	chr2:183485446..183488008-chr2:183493899..183496895,2	K562	blood:
6	chr2:183492322..183494288-chr2:183495772..183497912,2	K562	blood:
7	chr2:183484463..183486734-chr2:183489147..183491693,3	K562	blood:

No data

Extended variants
information (count: 406 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:406 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533042649	chr2:183486502-183486503	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs368053624	chr2:183486547-183486548	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs578086742	chr2:183486574-183486575	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs139376305	chr2:183486588-183486589	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs540728922	chr2:183486678-183486679	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs569264286	chr2:183486704-183486705	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs190739673	chr2:183486744-183486745	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs548609970	chr2:183486777-183486778	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs181026723	chr2:183486802-183486803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534747509	chr2:183486926-183486927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150029944	chr2:183486954-183486955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78840026	chr2:183486958-183486959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371863784	chr2:183486971-183486972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540090077	chr2:183486993-183486994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115307503	chr2:183486996-183486997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144414039	chr2:183487026-183487027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568942186	chr2:183487027-183487028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542237984	chr2:183487028-183487029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377066160	chr2:183487032-183487033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140175068	chr2:183487062-183487063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572432700	chr2:183487117-183487118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541529599	chr2:183487143-183487144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143992911	chr2:183487156-183487157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532965131	chr2:183487199-183487200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186264591	chr2:183487225-183487226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563233305	chr2:183487229-183487230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534766828	chr2:183487276-183487277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529197740	chr2:183487289-183487290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562855506	chr2:183487306-183487307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548550391	chr2:183487340-183487341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376832036	chr2:183487383-183487384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189997438	chr2:183487384-183487385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs13432215	chr2:183487388-183487389	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs182573085	chr2:183487390-183487391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376004346	chr2:183487417-183487418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540028102	chr2:183487418-183487419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556838950	chr2:183487460-183487461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146408402	chr2:183487500-183487501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187224663	chr2:183487505-183487506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75552717	chr2:183487593-183487594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572424400	chr2:183487601-183487602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541118009	chr2:183487610-183487611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558241584	chr2:183487658-183487659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140923575	chr2:183487690-183487691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs377288305	chr2:183487714-183487715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533046760	chr2:183487742-183487743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563172309	chr2:183487762-183487763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113424176	chr2:183487789-183487790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542926340	chr2:183487822-183487823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559060413	chr2:183487831-183487832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183459600-183493800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:183482000-183487000	Weak transcription	Fetal Stomach	stomach
3	chr2:183482400-183486800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:183483600-183486800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:183484200-183490200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:183485600-183487200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:183485600-183487200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:183485600-183487600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:183485600-183487600	Enhancers	Colon Smooth Muscle	Colon
10	chr2:183485600-183487800	Enhancers	Rectal Smooth Muscle	rectum
11	chr2:183485800-183487000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr2:183485800-183487200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:183485800-183487400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:183486000-183486600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:183486000-183495800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:183486200-183487800	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr2:183486200-183495600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:183486400-183486800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:183486400-183486800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:183486400-183486800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr2:183486600-183486800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:183486800-183487200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:183486800-183487600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:183486800-183488000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr2:183486800-183490400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:183486800-183490400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:183487000-183487200	Enhancers	Fetal Stomach	stomach
28	chr2:183487000-183493600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:183487200-183490000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:183487200-183490200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:183487400-183490200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:183487600-183490000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:183488000-183490000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr2:183489400-183489600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr2:183489600-183490600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr2:183490000-183490600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr2:183490000-183491000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:183490000-183491400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr2:183490000-183491400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr2:183490200-183490400	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr2:183490200-183490400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:183490200-183490600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr2:183490200-183491400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr2:183490400-183490800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr2:183490400-183490800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:183490400-183491000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr2:183490400-183491200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr2:183490600-183491000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr2:183490600-183491200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr2:183490600-183493600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links