Variant report

Variant	esv3373034
Chromosome Location	chr1:172616706-172617140
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:172615321..172617267-chr1:172618144..172620944,2	MCF-7	breast:
2	chr1:172607158..172609783-chr1:172617017..172618677,2	K562	blood:
3	chr1:172615017..172617201-chr1:172680481..172683033,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56971359	chr1:172616710-172616711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs202109421	chr1:172616711-172616712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143287437	chr1:172616725-172616726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564760737	chr1:172616730-172616731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528755251	chr1:172616755-172616756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540635467	chr1:172616756-172616757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1873795	chr1:172616766-172616767	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs386636819	chr1:172616778-172616779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1873794	chr1:172616779-172616780	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs183033338	chr1:172616781-172616782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532972984	chr1:172616812-172616813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35560873	chr1:172616825-172616826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530048990	chr1:172616837-172616838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7535777	chr1:172616838-172616839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566429384	chr1:172616852-172616853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1041905	chr1:172616878-172616879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554956659	chr1:172616883-172616884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567138245	chr1:172616917-172616918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537976542	chr1:172616938-172616939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1041906	chr1:172616940-172616941	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs1041907	chr1:172616991-172616992	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs546429581	chr1:172616996-172616997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558337390	chr1:172616998-172616999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147432696	chr1:172617014-172617015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559849078	chr1:172617019-172617020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528788415	chr1:172617023-172617024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540896027	chr1:172617028-172617029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562139420	chr1:172617095-172617096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78452403	chr1:172617135-172617136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2859232	chr1:172617140-172617141	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:91)

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

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172608800-172624000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:172613000-172617200	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr1:172613200-172620200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:172613200-172620200	Weak transcription	HMEC	breast
5	chr1:172613600-172623400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:172613800-172623400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:172614600-172616800	Enhancers	Left Ventricle	heart
8	chr1:172615000-172617000	Enhancers	Fetal Thymus	thymus
9	chr1:172615200-172617000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr1:172615400-172617400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:172615400-172617600	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr1:172615600-172616800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:172615600-172616800	Enhancers	Thymus	Thymus
14	chr1:172615600-172617200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:172615600-172617400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr1:172615600-172617600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr1:172615600-172617600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr1:172615800-172616800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr1:172615800-172616800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:172615800-172617200	Enhancers	Primary T cells from cord blood	blood
21	chr1:172615800-172618400	Enhancers	Primary T cells fromperipheralblood	blood
22	chr1:172615800-172618600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:172616000-172616800	Enhancers	NH-A	brain
24	chr1:172616200-172616800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:172616200-172616800	Enhancers	Placenta	Placenta
26	chr1:172616200-172617600	Enhancers	Osteobl	bone
27	chr1:172616600-172617800	Enhancers	Dnd41	blood
28	chr1:172616800-172620000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:172616800-172623600	Weak transcription	NH-A	brain
30	chr1:172616800-172627400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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