Variant report

Variant	nsv875729
Chromosome Location	chr2:205972555-206027314
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:205996235..205998049-chr2:206006263..206008470,2	K562	blood:
2	chr2:205996235..205998049-chr2:206006263..206008470,2	K562	blood:
3	chr1:33442137..33442965-chr2:206013863..206014832,2	MCF-7	breast:
4	chr2:205998792..206000705-chr2:206000789..206004253,3	K562	blood:
5	chr2:205966282..205968302-chr2:205970008..205973001,2	K562	blood:
6	chr2:206022756..206024653-chr2:206025824..206027796,2	K562	blood:
7	chr2:205866228..205868992-chr2:205974074..205975929,2	K562	blood:
8	chr2:206005530..206007186-chr2:206009709..206011793,2	K562	blood:
9	chr2:206022756..206024653-chr2:206025824..206027796,2	K562	blood:
10	chr2:206005530..206007186-chr2:206009709..206011793,2	K562	blood:
11	chr2:205998792..206000705-chr2:206000789..206004253,3	K562	blood:

No data

Extended variants
information (count: 2101 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:2101 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56302548	chr2:205972555-205972556	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551928057	chr2:205972612-205972613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571895058	chr2:205972631-205972632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538994156	chr2:205972662-205972663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557256699	chr2:205972708-205972709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs16836955	chr2:205972713-205972714	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs567075622	chr2:205972716-205972717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114347903	chr2:205972725-205972726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554637975	chr2:205972751-205972752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573039960	chr2:205972756-205972757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540605194	chr2:205972767-205972768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12466722	chr2:205972788-205972789	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs185565139	chr2:205972871-205972872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368780692	chr2:205972897-205972898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544144820	chr2:205972900-205972901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115882889	chr2:205972922-205972923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368680712	chr2:205972981-205972982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72930560	chr2:205973023-205973024	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs542093386	chr2:205973024-205973025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571012033	chr2:205973118-205973119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs971766	chr2:205973159-205973160	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs527430817	chr2:205973164-205973165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552131317	chr2:205973191-205973192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189223457	chr2:205973212-205973213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537986550	chr2:205973233-205973234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556241755	chr2:205973263-205973264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531343016	chr2:205973270-205973271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368952969	chr2:205973279-205973280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569253714	chr2:205973287-205973288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150918121	chr2:205973304-205973305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191406320	chr2:205973317-205973318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139407447	chr2:205973344-205973345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534003660	chr2:205973370-205973371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183559347	chr2:205973385-205973386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13419302	chr2:205973391-205973392	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs113099074	chr2:205973465-205973466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544603283	chr2:205973510-205973511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574409484	chr2:205973520-205973521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1897781	chr2:205973522-205973523	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs188726877	chr2:205973555-205973556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4675499	chr2:205973568-205973569	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs560421334	chr2:205973606-205973607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78166329	chr2:205973647-205973648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181159549	chr2:205973652-205973653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114429170	chr2:205973669-205973670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184365184	chr2:205973700-205973701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545645787	chr2:205973704-205973705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145039970	chr2:205973729-205973730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1510767	chr2:205973735-205973736	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs147580748	chr2:205973740-205973741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Cervical cancer	21062161	CNVD
Intracranial aneurysm	16715129	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Glioblastoma multiforme	22286061	CNVD
Cancer	20164920	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205953400-205978600	Weak transcription	Fetal Lung	lung
2	chr2:205953400-206007200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:205963800-205990200	Weak transcription	Ovary	ovary
4	chr2:205968200-205986200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:205968800-205978200	Weak transcription	HSMM	muscle
6	chr2:205968800-205990200	Weak transcription	Adipose Nuclei	Adipose
7	chr2:205970000-206026000	Weak transcription	HSMMtube	muscle
8	chr2:205970200-205989800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:205972200-205972600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:205972200-205973200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:205972200-205973200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:205972400-205973200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:205972600-205973400	Enhancers	K562	blood
14	chr2:205972600-205978800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:205972800-205973400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr2:205973200-205973600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:205973200-205974000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:205973400-205994400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:205973400-205998200	Weak transcription	Psoas Muscle	Psoas
20	chr2:205974000-205974200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:205974000-205974200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:205974200-205976200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:205976200-205990000	Weak transcription	Left Ventricle	heart
24	chr2:205976800-206024400	Weak transcription	Aorta	Aorta
25	chr2:205977000-205977400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr2:205977000-205977600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr2:205977000-205990200	Weak transcription	Fetal Intestine Large	intestine
28	chr2:205977200-205977600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr2:205977200-205978000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr2:205977200-206000200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr2:205977600-205988600	Weak transcription	NHDF-Ad	bronchial
32	chr2:205978200-205979400	Strong transcription	HSMM	muscle
33	chr2:205978600-205978800	Enhancers	Fetal Lung	lung
34	chr2:205978800-205980000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:205978800-205990400	Weak transcription	Fetal Lung	lung
36	chr2:205978800-205992200	Weak transcription	Fetal Stomach	stomach
37	chr2:205979200-205979800	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr2:205979200-205980000	Enhancers	HUVEC	blood vessel
39	chr2:205979400-205988000	Weak transcription	HSMM	muscle
40	chr2:205979400-206014600	Weak transcription	Pancreas	Pancrea
41	chr2:205979800-205983400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr2:205980000-205990000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:205980600-205990400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr2:205980600-205994000	Weak transcription	Gastric	stomach
45	chr2:205981000-205984800	Enhancers	Fetal Kidney	kidney
46	chr2:205982000-205983400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:205982400-205997400	Weak transcription	Fetal Muscle Leg	muscle
48	chr2:205982600-205994600	Weak transcription	Colon Smooth Muscle	Colon
49	chr2:205982600-206003000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:205982800-205992200	Weak transcription	Fetal Intestine Small	intestine

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