Variant report

Variant	nsv872530
Chromosome Location	chr1:168618641-168658544
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:168635367..168638330-chr1:168655240..168657100,2	MCF-7	breast:
2	chr1:168624620..168626985-chr1:169073716..169075620,2	MCF-7	breast:
3	chr1:168635367..168638330-chr1:168655240..168657100,2	MCF-7	breast:
4	chr1:168658040..168660028-chr1:169075019..169076893,2	MCF-7	breast:
5	chr1:168651134..168652668-chr1:169074138..169076300,2	MCF-7	breast:
6	chr1:168620731..168623524-chrX:12991572..12994340,2	MCF-7	breast:
7	chr1:168606099..168608125-chr1:168618490..168620719,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205542	chromatin interactions
ENSG00000143153	chromatin interactions

Extended variants
information (count: 1254 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1254 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1412337	chr1:168618641-168618642	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs74121002	chr1:168618707-168618708	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs145817397	chr1:168618733-168618734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548219607	chr1:168618734-168618735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192112744	chr1:168618742-168618743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577180524	chr1:168618749-168618750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541493651	chr1:168618751-168618752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559934570	chr1:168618789-168618790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183791178	chr1:168618841-168618842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188677333	chr1:168618899-168618900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561214870	chr1:168618915-168618916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs193225076	chr1:168618919-168618920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138668839	chr1:168618929-168618930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199649807	chr1:168618942-168618943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185614710	chr1:168618964-168618965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75759914	chr1:168619011-168619012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6427140	chr1:168619016-168619017	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs149232666	chr1:168619114-168619115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1890137	chr1:168619151-168619152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
20	rs144506723	chr1:168619171-168619172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs60489017	chr1:168619179-168619180	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs187981938	chr1:168619187-168619188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548867599	chr1:168619188-168619189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577168112	chr1:168619190-168619191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75698947	chr1:168619196-168619197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559870589	chr1:168619204-168619205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575015810	chr1:168619233-168619234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542364739	chr1:168619252-168619253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560884890	chr1:168619268-168619269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371302425	chr1:168619282-168619283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191288127	chr1:168619370-168619371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183981362	chr1:168619405-168619406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565230100	chr1:168619421-168619422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531969543	chr1:168619450-168619451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188711549	chr1:168619469-168619470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565413557	chr1:168619481-168619482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147997873	chr1:168619489-168619490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs60142023	chr1:168619497-168619498	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs141539765	chr1:168619512-168619513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1933116	chr1:168619548-168619549	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs565760963	chr1:168619556-168619557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181677282	chr1:168619620-168619621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376586706	chr1:168619621-168619622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370724613	chr1:168619652-168619653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs16861236	chr1:168619763-168619764	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs16861239	chr1:168619774-168619775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553375342	chr1:168619793-168619794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377656708	chr1:168619801-168619802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542303163	chr1:168619855-168619856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76182481	chr1:168619910-168619911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168618400-168619400	Enhancers	Ovary	ovary
2	chr1:168618600-168619800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr1:168618600-168625800	Weak transcription	Pancreas	Pancrea
4	chr1:168619200-168619800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr1:168619800-168621200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:168621000-168621200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:168621200-168621400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:168621200-168623400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr1:168621200-168624600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:168622000-168624600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:168622200-168623600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:168622200-168623800	Enhancers	HSMMtube	muscle
13	chr1:168622200-168624000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:168622200-168624200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:168622200-168624400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:168622200-168624600	Enhancers	HMEC	breast
17	chr1:168622400-168624400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:168622400-168624400	Enhancers	NH-A	brain
19	chr1:168622400-168624600	Enhancers	Osteobl	bone
20	chr1:168622600-168623600	Enhancers	NHDF-Ad	bronchial
21	chr1:168622600-168624400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:168622600-168624600	Enhancers	NHEK	skin
23	chr1:168622800-168623000	Enhancers	Hela-S3	cervix
24	chr1:168622800-168623400	Enhancers	Colon Smooth Muscle	Colon
25	chr1:168622800-168624400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:168623000-168624000	Weak transcription	Hela-S3	cervix
27	chr1:168623600-168624200	Weak transcription	NHDF-Ad	bronchial
28	chr1:168623600-168625600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:168624000-168624600	Enhancers	Hela-S3	cervix
30	chr1:168624000-168625800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:168624200-168624400	Enhancers	NHDF-Ad	bronchial
32	chr1:168624600-168625600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:168625600-168626400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:168625800-168626000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr1:168625800-168626000	Enhancers	Pancreas	Pancrea
36	chr1:168625800-168626800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:168626200-168626600	Enhancers	H1 Cell Line	embryonic stem cell
38	chr1:168626200-168626800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr1:168626200-168626800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr1:168626400-168626800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr1:168626400-168626800	Enhancers	Spleen	Spleen
42	chr1:168627000-168627400	Enhancers	Fetal Intestine Small	intestine
43	chr1:168627000-168627600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:168627200-168627600	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr1:168632800-168634200	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr1:168633000-168633600	Enhancers	Fetal Intestine Small	intestine
47	chr1:168633200-168633600	Enhancers	Fetal Intestine Large	intestine
48	chr1:168633400-168634000	Enhancers	Rectal Smooth Muscle	rectum
49	chr1:168633400-168634200	Enhancers	HepG2	liver
50	chr1:168633600-168633800	Enhancers	Colon Smooth Muscle	Colon

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