Variant report

Variant	esv988017
Chromosome Location	chr1:180630648-180639452
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180636272..180637982-chr1:180722963..180724636,2	K562	blood:
2	chr1:180635790..180637980-chr1:180647004..180649044,3	K562	blood:
3	chr1:180552648..180554926-chr1:180634516..180636719,2	K562	blood:

Extended variants
information (count: 331 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:331 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60527318	chr1:180630648-180630649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111672960	chr1:180630659-180630660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183822638	chr1:180630699-180630700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376667715	chr1:180630741-180630742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143018835	chr1:180630743-180630744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147529105	chr1:180630815-180630816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541449132	chr1:180630831-180630832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187317988	chr1:180630870-180630871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192622466	chr1:180630913-180630914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545216832	chr1:180630923-180630924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565890727	chr1:180630925-180630926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184606535	chr1:180630926-180630927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116839094	chr1:180630974-180630975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573800290	chr1:180631005-180631006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376129723	chr1:180631027-180631028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12097831	chr1:180631029-180631030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs12082726	chr1:180631031-180631032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs548832212	chr1:180631041-180631042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73049484	chr1:180631168-180631169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs112776723	chr1:180631204-180631205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200414853	chr1:180631342-180631343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184792899	chr1:180631352-180631353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12087562	chr1:180631447-180631448	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs189996235	chr1:180631456-180631457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569818745	chr1:180631482-180631483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138329875	chr1:180631483-180631484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555663465	chr1:180631498-180631499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573990046	chr1:180631602-180631603	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149604561	chr1:180631629-180631630	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374572658	chr1:180631634-180631635	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577989831	chr1:180631656-180631657	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545467371	chr1:180631699-180631700	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545023543	chr1:180631814-180631815	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6704318	chr1:180631891-180631892	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs575765167	chr1:180631903-180631904	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542829453	chr1:180631952-180631953	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561206511	chr1:180631955-180631956	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140913627	chr1:180632039-180632040	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113772165	chr1:180632041-180632042	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74511884	chr1:180632079-180632080	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528764416	chr1:180632080-180632081	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34337796	chr1:180632091-180632092	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181210853	chr1:180632097-180632098	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs55742845	chr1:180632102-180632103	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs6694620	chr1:180632263-180632264	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs4451517	chr1:180632274-180632275	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs537200077	chr1:180632284-180632285	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs549199319	chr1:180632314-180632315	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs148783736	chr1:180632324-180632325	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs534904429	chr1:180632331-180632332	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
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
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	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
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180602000-180645200	Weak transcription	Gastric	stomach
2	chr1:180613200-180632600	Weak transcription	Aorta	Aorta
3	chr1:180619600-180632600	Weak transcription	Pancreas	Pancrea
4	chr1:180619600-180634600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:180625800-180634800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:180627600-180632800	Weak transcription	A549	lung
7	chr1:180627600-180640000	Weak transcription	Fetal Heart	heart
8	chr1:180627800-180634200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:180628200-180631600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:180629200-180633800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:180629600-180632600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr1:180629600-180641000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:180630800-180631000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:180630800-180634400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:180631000-180633600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:180631000-180634200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:180631200-180635000	Weak transcription	HMEC	breast
18	chr1:180631200-180636000	Weak transcription	Ovary	ovary
19	chr1:180631400-180635000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:180631600-180632200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:180631600-180632400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:180631600-180644400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:180631800-180632600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:180631800-180633400	Weak transcription	Left Ventricle	heart
25	chr1:180631800-180635000	ZNF genes & repeats	Fetal Brain Female	brain
26	chr1:180632000-180632400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
27	chr1:180632000-180632800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
28	chr1:180632000-180633000	ZNF genes & repeats	Primary T cells from cord blood	blood
29	chr1:180632200-180633000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
30	chr1:180632200-180635000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:180632200-180635000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
32	chr1:180632200-180644800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:180632400-180633600	ZNF genes & repeats	Primary B cells from cord blood	blood
34	chr1:180632400-180633800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:180632400-180634600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:180632400-180634800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:180632400-180634800	ZNF genes & repeats	Fetal Intestine Small	intestine
38	chr1:180632400-180634800	Strong transcription	Pancreatic Islets	Pancreatic Islet
39	chr1:180632400-180635000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:180632400-180635400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:180632400-180635400	ZNF genes & repeats	Brain Germinal Matrix	brain
42	chr1:180632600-180633000	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr1:180632600-180633000	Strong transcription	Pancreas	Pancrea
44	chr1:180632600-180633200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:180632600-180633600	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr1:180632600-180633800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:180632600-180633800	ZNF genes & repeats	Fetal Intestine Large	intestine
48	chr1:180632600-180634400	Strong transcription	Aorta	Aorta
49	chr1:180632600-180634800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:180632600-180635000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood

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