Variant report

Variant	esv3436980
Chromosome Location	chr1:169344228-169345276
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169338197..169339910-chr1:169345261..169347920,2	MCF-7	breast:
2	chr1:169341801..169344771-chr1:169346777..169350780,3	MCF-7	breast:
3	chr1:169345044..169346763-chr1:169350372..169352525,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530102760	chr1:169344247-169344248	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78524832	chr1:169344262-169344263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72702180	chr1:169344263-169344264	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs72637232	chr1:169344393-169344394	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs552582317	chr1:169344460-169344461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571411834	chr1:169344466-169344467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536606876	chr1:169344525-169344526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538928091	chr1:169344565-169344566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142587239	chr1:169344593-169344594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35918529	chr1:169344594-169344595	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs201587894	chr1:169344600-169344601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201095422	chr1:169344617-169344618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567243684	chr1:169344632-169344633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552153679	chr1:169344653-169344654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570399159	chr1:169344655-169344656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs66563701	chr1:169344664-169344665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs58679820	chr1:169344669-169344670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142833395	chr1:169344714-169344715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193055384	chr1:169344735-169344736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10919155	chr1:169344765-169344766	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs556239927	chr1:169344794-169344795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74121659	chr1:169344830-169344831	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs543039342	chr1:169344883-169344884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564903306	chr1:169344941-169344942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577414740	chr1:169344973-169344974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541728762	chr1:169344984-169344985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113080213	chr1:169344995-169344996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28615073	chr1:169344997-169344998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143041398	chr1:169345038-169345039	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139109527	chr1:169345048-169345049	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534704112	chr1:169345050-169345051	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10919156	chr1:169345054-169345055	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs577590181	chr1:169345067-169345068	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185816271	chr1:169345117-169345118	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189122754	chr1:169345153-169345154	Weak transcription Strong transcription Genic enhancers	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
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
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
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169338000-169351200	Weak transcription	Lung	lung
2	chr1:169338000-169351200	Weak transcription	Spleen	Spleen
3	chr1:169338000-169353600	Weak transcription	Small Intestine	intestine
4	chr1:169338000-169358000	Weak transcription	Esophagus	oesophagus
5	chr1:169338000-169360000	Weak transcription	Fetal Heart	heart
6	chr1:169338000-169360400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:169338000-169365200	Weak transcription	Gastric	stomach
8	chr1:169338000-169365600	Weak transcription	Pancreas	Pancrea
9	chr1:169338200-169345800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr1:169338200-169345800	Weak transcription	Ovary	ovary
11	chr1:169338200-169351800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:169338200-169360400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:169338200-169360400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:169338200-169362200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:169338200-169363600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:169338200-169363600	Weak transcription	Stomach Mucosa	stomach
17	chr1:169338200-169369000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:169338400-169345800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:169338400-169345800	Weak transcription	Right Ventricle	heart
20	chr1:169338400-169349600	Weak transcription	HSMMtube	muscle
21	chr1:169338400-169360200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr1:169338400-169362600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:169338600-169345800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:169338600-169345800	Weak transcription	Colonic Mucosa	Colon
25	chr1:169338600-169345800	Weak transcription	Colon Smooth Muscle	Colon
26	chr1:169338600-169345800	Weak transcription	Psoas Muscle	Psoas
27	chr1:169338600-169346000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:169338600-169346000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr1:169338600-169349800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr1:169338600-169351400	Weak transcription	Thymus	Thymus
31	chr1:169338600-169352200	Weak transcription	Aorta	Aorta
32	chr1:169338600-169352200	Weak transcription	Fetal Stomach	stomach
33	chr1:169338600-169352400	Weak transcription	Fetal Intestine Small	intestine
34	chr1:169338600-169352800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:169338600-169357600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:169338800-169345800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:169338800-169347400	Weak transcription	Fetal Brain Female	brain
38	chr1:169339200-169345600	Weak transcription	A549	lung
39	chr1:169339200-169351800	Weak transcription	Fetal Brain Male	brain
40	chr1:169339400-169344400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:169339400-169345600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:169339400-169345800	Weak transcription	HepG2	liver
43	chr1:169339400-169346000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:169339400-169347600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr1:169339600-169345200	Weak transcription	Brain Angular Gyrus	brain
46	chr1:169339600-169345800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr1:169339600-169345800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:169339600-169351000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr1:169339800-169345800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr1:169340000-169345600	Weak transcription	Duodenum Mucosa	Duodenum

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