Variant report

Variant	esv3332845
Chromosome Location	chr1:166913225-166914648
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:166907906..166910353-chr1:166911637..166913490,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181242678	chr1:166913348-166913349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183868287	chr1:166913353-166913354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569453297	chr1:166913368-166913369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145687679	chr1:166913373-166913374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552032957	chr1:166913470-166913471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567077651	chr1:166913487-166913488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534595585	chr1:166913523-166913524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553042689	chr1:166913535-166913536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574544263	chr1:166913694-166913695	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs543544503	chr1:166913710-166913711	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs563518103	chr1:166913838-166913839	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs535546090	chr1:166913941-166913942	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs151104430	chr1:166913984-166913985	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs140942521	chr1:166914066-166914067	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189278149	chr1:166914087-166914088	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545714794	chr1:166914113-166914114	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374408821	chr1:166914125-166914126	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564385619	chr1:166914131-166914132	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572850735	chr1:166914134-166914135	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149783482	chr1:166914153-166914154	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561759398	chr1:166914159-166914160	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367944039	chr1:166914167-166914168	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529303676	chr1:166914202-166914203	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs529437254	chr1:166914211-166914212	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs543219721	chr1:166914236-166914237	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs544705472	chr1:166914249-166914250	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs6427047	chr1:166914258-166914259	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs180824186	chr1:166914266-166914267	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs551732364	chr1:166914287-166914288	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs145707925	chr1:166914294-166914295	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs527998972	chr1:166914295-166914296	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs546572632	chr1:166914303-166914304	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs551387764	chr1:166914317-166914318	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs568084736	chr1:166914319-166914320	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs571301502	chr1:166914387-166914388	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs535508920	chr1:166914433-166914434	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs557004085	chr1:166914460-166914461	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs568888145	chr1:166914472-166914473	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs187391079	chr1:166914513-166914514	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs190632619	chr1:166914548-166914549	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs374320124	chr1:166914583-166914584	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs572762945	chr1:166914626-166914627	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs372813874	chr1:166914631-166914632	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs55789946	chr1:166914640-166914641	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166891000-166916400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:166892000-166913800	Weak transcription	Thymus	Thymus
3	chr1:166900800-166913600	Weak transcription	GM12878-XiMat	blood
4	chr1:166904400-166913400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:166905800-166913600	Weak transcription	Right Atrium	heart
6	chr1:166905800-166915200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:166907600-166914000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:166907800-166913800	Weak transcription	Brain Angular Gyrus	brain
9	chr1:166909000-166913400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:166909000-166914000	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:166909000-166914000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:166909000-166914000	Weak transcription	Brain Substantia Nigra	brain
13	chr1:166909800-166913800	Weak transcription	Fetal Brain Male	brain
14	chr1:166910600-166913600	Weak transcription	Fetal Heart	heart
15	chr1:166912800-166913600	Enhancers	HSMM	muscle
16	chr1:166912800-166915400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:166912800-166915400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr1:166912800-166915400	Enhancers	Dnd41	blood
19	chr1:166912800-166916000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:166913000-166913600	Enhancers	NH-A	brain
21	chr1:166913000-166913800	Enhancers	Primary T cells from cord blood	blood
22	chr1:166913000-166913800	Enhancers	HSMMtube	muscle
23	chr1:166913000-166914000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:166913000-166914400	Enhancers	Osteobl	bone
25	chr1:166913000-166916200	Enhancers	Brain Germinal Matrix	brain
26	chr1:166913000-166916400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:166913000-166916400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:166913000-166922200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr1:166913400-166914400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr1:166913400-166914400	Enhancers	Brain Cingulate Gyrus	brain
31	chr1:166913400-166914600	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr1:166913400-166915200	Enhancers	Primary hematopoietic stem cells	blood
33	chr1:166913400-166915200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr1:166913400-166915200	Enhancers	Fetal Thymus	thymus
35	chr1:166913400-166915400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:166913400-166922000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:166913600-166913800	Enhancers	Fetal Heart	heart
38	chr1:166913600-166914000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:166913600-166914000	Enhancers	Primary T cells fromperipheralblood	blood
40	chr1:166913600-166914000	Enhancers	NHEK	skin
41	chr1:166913600-166914200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:166913600-166914200	Enhancers	Right Atrium	heart
43	chr1:166913600-166914200	Flanking Active TSS	HSMM	muscle
44	chr1:166913600-166914200	Flanking Active TSS	NH-A	brain
45	chr1:166913600-166914400	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr1:166913600-166914400	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr1:166913600-166914400	Enhancers	GM12878-XiMat	blood
48	chr1:166913600-166914600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:166913600-166914600	Enhancers	HMEC	breast
50	chr1:166913600-166914800	Enhancers	Primary T helper cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links