Variant report

Variant	nsv946505
Chromosome Location	chr1:172689672-172693064
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:172689246..172691904-chr1:172691926..172693561,2	K562	blood:
2	chr1:172686833..172688972-chr1:172691671..172694173,3	K562	blood:
3	chr1:172575736..172579106-chr1:172685787..172690333,5	MCF-7	breast:
4	chr1:172578369..172579356-chr1:172688459..172689768,14	MCF-7	breast:
5	chr1:172689246..172691904-chr1:172691926..172693561,2	K562	blood:
6	chr1:172418700..172420353-chr1:172690772..172692293,2	MCF-7	breast:
7	chr1:172687416..172689203-chr1:172691086..172692709,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000094975	chromatin interactions
ENSG00000180999	chromatin interactions

Extended variants
information (count: 118 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573989837	chr1:172689682-172689683	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs188994589	chr1:172689714-172689715	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs144589526	chr1:172689845-172689846	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs181168416	chr1:172689855-172689856	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs57877254	chr1:172689864-172689865	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs78911193	chr1:172689871-172689872	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs140427111	chr1:172689874-172689875	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs74582422	chr1:172689875-172689876	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs79028342	chr1:172689876-172689877	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs76946446	chr1:172689878-172689879	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs77936869	chr1:172689904-172689905	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs75537370	chr1:172689906-172689907	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs184775727	chr1:172689912-172689913	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs76556730	chr1:172689916-172689917	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs74773077	chr1:172689920-172689921	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs75720583	chr1:172689921-172689922	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs80242920	chr1:172689931-172689932	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs538200534	chr1:172689940-172689941	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs144301541	chr1:172690013-172690014	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs539780900	chr1:172690019-172690020	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs35477862	chr1:172690042-172690043	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs553243987	chr1:172690054-172690055	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs370882548	chr1:172690121-172690122	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs147781797	chr1:172690128-172690129	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs138993769	chr1:172690162-172690163	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs6691607	chr1:172690163-172690164	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs149852518	chr1:172690195-172690196	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs189283766	chr1:172690204-172690205	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs576438191	chr1:172690294-172690295	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs543551519	chr1:172690295-172690296	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs145851492	chr1:172690308-172690309	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs532388188	chr1:172690333-172690334	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs547415881	chr1:172690405-172690406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559195250	chr1:172690423-172690424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148985126	chr1:172690475-172690476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180816450	chr1:172690541-172690542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569751774	chr1:172690565-172690566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370219607	chr1:172690632-172690633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555713501	chr1:172690635-172690636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186207443	chr1:172690680-172690681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551974965	chr1:172690693-172690694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7537304	chr1:172690788-172690789	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs534575145	chr1:172690820-172690821	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs145834215	chr1:172690861-172690862	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs572740292	chr1:172690880-172690881	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs536952481	chr1:172690947-172690948	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs146600393	chr1:172690975-172690976	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs554228368	chr1:172690998-172690999	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs201349590	chr1:172691003-172691004	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs535138494	chr1:172691028-172691029	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	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
Cancer	21183584	CNVD
Multiple myeloma	16461302	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
Glioblastoma multiforme	21080181	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
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
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172684000-172692400	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr1:172685000-172690400	Enhancers	Placenta	Placenta
3	chr1:172686000-172693600	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr1:172686200-172693800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr1:172686200-172693800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr1:172686200-172693800	Weak transcription	Fetal Thymus	thymus
7	chr1:172687000-172689800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr1:172687600-172689800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:172687800-172692400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:172688000-172690000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr1:172688800-172690000	Enhancers	HMEC	breast
12	chr1:172688800-172693600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:172689000-172689800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr1:172689000-172690000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr1:172689000-172690200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:172689200-172689800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr1:172689200-172689800	Enhancers	NHEK	skin
18	chr1:172689200-172692200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:172689200-172693200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:172689200-172693600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:172689200-172693600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:172689200-172693600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr1:172689200-172693600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:172689200-172693800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:172689200-172694000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr1:172689200-172696800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:172689200-172700400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr1:172689400-172690200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:172689400-172690400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:172689400-172693000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr1:172689600-172692400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:172689800-172691200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr1:172689800-172692400	Weak transcription	NHEK	skin
34	chr1:172690000-172692200	Weak transcription	HMEC	breast
35	chr1:172690200-172692800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:172690400-172692000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:172691200-172691400	Enhancers	Placenta Amnion	Placenta Amnion
38	chr1:172691400-172691800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr1:172691800-172696600	Enhancers	Placenta Amnion	Placenta Amnion
40	chr1:172692000-172693400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:172692200-172693200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:172692200-172693200	Enhancers	HMEC	breast
43	chr1:172692400-172692800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr1:172692400-172693400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:172692400-172693400	Enhancers	NHEK	skin
46	chr1:172692400-172694200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:172692800-172693200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:172693000-172693200	Enhancers	Primary T helper cells PMA-I stimulated	--

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