Variant report

Variant	esv3392396
Chromosome Location	chr1:165730553-165732501
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:165727144..165731091-chr1:165796084..165798255,3	K562	blood:
2	chr1:165727367..165730301-chr1:165730558..165733503,2	MCF-7	breast:
3	chr1:165731771..165733525-chr1:165736901..165738837,2	K562	blood:
4	chr1:165730777..165733334-chr1:165795438..165798730,3	K562	blood:
5	chr1:165730442..165735280-chr1:165736024..165740207,7	MCF-7	breast:
6	chr1:165702257..165704580-chr1:165731133..165732717,2	K562	blood:

Variant related genes	Relation type
ENSG00000143179	chromatin interactions
ENSG00000224358	chromatin interactions
ENSG00000143183	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575509118	chr1:165730589-165730590	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs9659840	chr1:165730602-165730603	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs112167809	chr1:165730638-165730639	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs111557127	chr1:165730650-165730651	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs185055646	chr1:165730672-165730673	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs61800456	chr1:165730689-165730690	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs532180488	chr1:165730719-165730720	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs567365844	chr1:165730751-165730752	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs563277693	chr1:165730759-165730760	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs190897645	chr1:165730767-165730768	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs538129125	chr1:165730780-165730781	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs548256104	chr1:165730800-165730801	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs35415933	chr1:165730801-165730802	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs568014417	chr1:165730864-165730865	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs372385072	chr1:165730908-165730909	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs4656462	chr1:165730918-165730919	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs114917132	chr1:165730928-165730929	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs538887594	chr1:165730984-165730985	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs559089995	chr1:165730991-165730992	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs116641964	chr1:165730997-165730998	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs141094449	chr1:165731003-165731004	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs560949716	chr1:165731065-165731066	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs574451741	chr1:165731080-165731081	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs540743291	chr1:165731115-165731116	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs181742860	chr1:165731199-165731200	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs532624124	chr1:165731210-165731211	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs373589359	chr1:165731244-165731245	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs199617163	chr1:165731246-165731247	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs200524544	chr1:165731248-165731249	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs201646040	chr1:165731249-165731250	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs552130117	chr1:165731481-165731482	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs562671281	chr1:165731482-165731483	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs531643609	chr1:165731483-165731484	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs548466979	chr1:165731486-165731487	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs568080919	chr1:165731487-165731488	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs549071208	chr1:165731489-165731490	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs79402779	chr1:165731622-165731623	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs369253462	chr1:165731665-165731666	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs570485984	chr1:165731741-165731742	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs539508248	chr1:165731796-165731797	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs16850119	chr1:165731822-165731823	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs575386283	chr1:165731825-165731826	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs185935798	chr1:165731827-165731828	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs554807575	chr1:165731843-165731844	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs150947117	chr1:165731868-165731869	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs75218887	chr1:165731906-165731907	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs10918280	chr1:165731912-165731913	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs140798993	chr1:165731921-165731922	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs191730698	chr1:165731939-165731940	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs115791054	chr1:165731968-165731969	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	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
Thoracic aortic aneurysm	21092924	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165687600-165737600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:165694600-165736800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr1:165711200-165736200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:165712200-165737000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:165712600-165737000	Weak transcription	Colonic Mucosa	Colon
6	chr1:165713400-165733600	Weak transcription	NHEK	skin
7	chr1:165713600-165737000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:165720800-165733400	Weak transcription	A549	lung
9	chr1:165721800-165730800	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:165721800-165731000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:165721800-165731200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:165721800-165732600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr1:165721800-165732600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:165721800-165732600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:165721800-165732800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr1:165721800-165732800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:165721800-165734800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:165721800-165734800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:165721800-165734800	Weak transcription	Esophagus	oesophagus
20	chr1:165721800-165735200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:165721800-165736600	Weak transcription	Stomach Mucosa	stomach
22	chr1:165721800-165737000	Weak transcription	Fetal Brain Male	brain
23	chr1:165721800-165737000	Weak transcription	Fetal Heart	heart
24	chr1:165721800-165737000	Weak transcription	Right Atrium	heart
25	chr1:165721800-165737200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr1:165721800-165737600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:165722400-165732800	Weak transcription	HepG2	liver
28	chr1:165722400-165735000	Weak transcription	HSMMtube	muscle
29	chr1:165722600-165733400	Weak transcription	Brain Anterior Caudate	brain
30	chr1:165722600-165733600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:165722600-165736800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:165722800-165734800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr1:165723000-165730600	Weak transcription	Lung	lung
34	chr1:165723000-165736800	Weak transcription	Spleen	Spleen
35	chr1:165723200-165732800	Weak transcription	Pancreas	Pancrea
36	chr1:165723200-165736800	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:165723400-165734800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:165723600-165732600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:165723600-165732800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:165723600-165733600	Weak transcription	Brain Angular Gyrus	brain
41	chr1:165723600-165735600	Weak transcription	Brain Germinal Matrix	brain
42	chr1:165723800-165733400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:165723800-165733800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:165724000-165733800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:165724200-165732800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr1:165724200-165732800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr1:165724200-165733600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr1:165724200-165733600	Weak transcription	Brain Hippocampus Middle	brain
49	chr1:165724200-165733600	Weak transcription	HUVEC	blood vessel
50	chr1:165724800-165732600	Weak transcription	Rectal Mucosa Donor 31	rectum

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