Variant report

Variant	nsv945282
Chromosome Location	chr1:212475737-212482732
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212467247..212471909-chr1:212472711..212476183,6	K562	blood:
2	chr1:212457668..212459740-chr1:212480446..212483252,3	MCF-7	breast:
3	chr1:212458179..212461162-chr1:212476171..212477846,2	K562	blood:
4	chr1:212458610..212460865-chr1:212476520..212479073,2	K562	blood:

Variant related genes	Relation type
ENSG00000230063	chromatin interactions
ENSG00000066027	chromatin interactions

Extended variants
information (count: 252 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139427714	chr1:212475760-212475761	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs185805756	chr1:212475778-212475779	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs565218375	chr1:212475955-212475956	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs190959809	chr1:212475969-212475970	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs34672850	chr1:212475989-212475990	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs544443704	chr1:212475995-212475996	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs145166320	chr1:212476011-212476012	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs367581854	chr1:212476093-212476094	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs183155159	chr1:212476108-212476109	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs549083336	chr1:212476125-212476126	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs186506964	chr1:212476218-212476219	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs544173597	chr1:212476242-212476243	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs528516663	chr1:212476287-212476288	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs546965422	chr1:212476305-212476306	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs571952178	chr1:212476314-212476315	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs564138578	chr1:212476326-212476327	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs143945386	chr1:212476345-212476346	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs532777847	chr1:212476401-212476402	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs75160447	chr1:212476403-212476404	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs374480593	chr1:212476464-212476465	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs58379093	chr1:212476477-212476478	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs536323778	chr1:212476484-212476485	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs351393	chr1:212476519-212476520	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs190830902	chr1:212476556-212476557	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs566204301	chr1:212476574-212476575	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs533825890	chr1:212476610-212476611	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs34447409	chr1:212476651-212476652	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs114497995	chr1:212476653-212476654	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs568096116	chr1:212476777-212476778	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs111862158	chr1:212476778-212476779	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs568292781	chr1:212476801-212476802	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs142925904	chr1:212476812-212476813	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs182866950	chr1:212476828-212476829	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs549126383	chr1:212476832-212476833	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs34539747	chr1:212476836-212476837	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs554065273	chr1:212476851-212476852	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs542692537	chr1:212476903-212476904	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs58193366	chr1:212476941-212476942	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs117503819	chr1:212476961-212476962	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs540572087	chr1:212476962-212476963	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs116858131	chr1:212476967-212476968	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs187932336	chr1:212476985-212476986	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs551318134	chr1:212477007-212477008	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs576893880	chr1:212477034-212477035	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs569451774	chr1:212477043-212477044	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs376198457	chr1:212477058-212477059	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs116738954	chr1:212477061-212477062	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs548295910	chr1:212477091-212477092	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs12128965	chr1:212477092-212477093	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs72752385	chr1:212477177-212477178	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:238 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212460200-212489200	Weak transcription	Spleen	Spleen
2	chr1:212461000-212476200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:212464200-212483000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:212464800-212480200	Weak transcription	Lung	lung
5	chr1:212464800-212483800	Weak transcription	Pancreas	Pancrea
6	chr1:212464800-212506400	Weak transcription	Esophagus	oesophagus
7	chr1:212465000-212480200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:212465400-212482800	Weak transcription	Fetal Lung	lung
9	chr1:212465800-212483200	Weak transcription	Dnd41	blood
10	chr1:212466200-212506400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:212466600-212479400	Weak transcription	NHEK	skin
12	chr1:212466600-212482600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:212466600-212503000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:212467000-212480800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:212467200-212481800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr1:212467400-212480200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr1:212467400-212482800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:212467400-212526000	Weak transcription	A549	lung
19	chr1:212467600-212482800	Weak transcription	HepG2	liver
20	chr1:212468800-212476000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:212468800-212478200	Weak transcription	Fetal Intestine Small	intestine
22	chr1:212469000-212480200	Weak transcription	Fetal Intestine Large	intestine
23	chr1:212469000-212483200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:212469000-212483400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:212470000-212476000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr1:212470000-212476400	Weak transcription	K562	blood
27	chr1:212470000-212481800	Weak transcription	Thymus	Thymus
28	chr1:212470400-212481200	Weak transcription	Primary T cells from cord blood	blood
29	chr1:212470800-212482600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr1:212472600-212478200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr1:212473400-212477000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:212473400-212477800	Weak transcription	Psoas Muscle	Psoas
33	chr1:212473400-212483800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:212473600-212478800	Weak transcription	Small Intestine	intestine
35	chr1:212474000-212477600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr1:212474200-212476600	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr1:212474200-212484000	Weak transcription	Primary B cells from cord blood	blood
38	chr1:212474200-212502800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:212474400-212477200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr1:212474600-212476400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:212474600-212477800	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr1:212474600-212477800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:212474600-212482400	Weak transcription	Left Ventricle	heart
44	chr1:212474600-212482600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr1:212474600-212489200	Weak transcription	Gastric	stomach
46	chr1:212474800-212475800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:212474800-212476000	Weak transcription	Fetal Brain Male	brain
48	chr1:212474800-212476200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:212474800-212477400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:212474800-212482400	Weak transcription	Right Atrium	heart

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