Variant report

Variant	esv3453122
Chromosome Location	chr1:169237528-169244226
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 223 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:223 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34750504	chr1:169237590-169237591	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375690993	chr1:169237593-169237594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs58050899	chr1:169237619-169237620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs10919119	chr1:169237632-169237633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs12035804	chr1:169237678-169237679	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs532140676	chr1:169237711-169237712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185950173	chr1:169237717-169237718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192009697	chr1:169237718-169237719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530363110	chr1:169237741-169237742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563761048	chr1:169237779-169237780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548355379	chr1:169237834-169237835	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs112941548	chr1:169237846-169237847	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs112541577	chr1:169237883-169237884	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs537114398	chr1:169237934-169237935	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs559020565	chr1:169237945-169237946	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs138385995	chr1:169237990-169237991	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs112033948	chr1:169238003-169238004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535016403	chr1:169238091-169238092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7528751	chr1:169238092-169238093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs527521128	chr1:169238101-169238102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540312673	chr1:169238102-169238103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554776322	chr1:169238134-169238135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183758186	chr1:169238142-169238143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189244348	chr1:169238150-169238151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371166992	chr1:169238157-169238158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564993670	chr1:169238197-169238198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144045657	chr1:169238203-169238204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532153647	chr1:169238253-169238254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541007082	chr1:169238304-169238305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190741771	chr1:169238382-169238383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530304046	chr1:169238448-169238449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548489609	chr1:169238494-169238495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182068557	chr1:169238511-169238512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74121603	chr1:169238545-169238546	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs3766084	chr1:169238558-169238559	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs532508258	chr1:169238588-169238589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186660877	chr1:169238600-169238601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534839690	chr1:169238614-169238615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74121604	chr1:169238659-169238660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs3766085	chr1:169238677-169238678	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs3766086	chr1:169238745-169238746	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs554910124	chr1:169238789-169238790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76681931	chr1:169238853-169238854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537245552	chr1:169238864-169238865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114815377	chr1:169238908-169238909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74121605	chr1:169238919-169238920	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs374749792	chr1:169238926-169238927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558891489	chr1:169238945-169238946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191569456	chr1:169238968-169238969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79188850	chr1:169238974-169238975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169227600-169257400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:169228400-169257400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:169234600-169240800	Weak transcription	Primary T cells from cord blood	blood
4	chr1:169235200-169240200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:169235400-169240000	Weak transcription	Fetal Intestine Large	intestine
6	chr1:169235400-169240200	Weak transcription	HepG2	liver
7	chr1:169237800-169238000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
8	chr1:169238000-169240000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:169239600-169241000	Enhancers	Rectal Smooth Muscle	rectum
10	chr1:169239600-169241000	Enhancers	Stomach Mucosa	stomach
11	chr1:169240000-169240200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:169240000-169240800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:169240000-169240800	Enhancers	Colon Smooth Muscle	Colon
14	chr1:169240000-169241000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr1:169240000-169241000	Enhancers	Fetal Intestine Large	intestine
16	chr1:169240000-169241000	Enhancers	Fetal Intestine Small	intestine
17	chr1:169240200-169240400	Enhancers	Liver	Liver
18	chr1:169240200-169240600	Genic enhancers	Rectal Mucosa Donor 31	rectum
19	chr1:169240200-169240800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:169240200-169240800	Enhancers	Fetal Heart	heart
21	chr1:169240200-169241800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:169240400-169240600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:169240400-169240600	Enhancers	HepG2	liver
24	chr1:169240400-169240800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr1:169240400-169240800	Flanking Active TSS	Liver	Liver
26	chr1:169240400-169240800	Enhancers	Brain Hippocampus Middle	brain
27	chr1:169240400-169240800	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr1:169240400-169241000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr1:169240400-169241000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr1:169240400-169241000	Enhancers	K562	blood
31	chr1:169240400-169241200	Enhancers	Fetal Lung	lung
32	chr1:169240600-169241000	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr1:169240600-169248600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:169240800-169241000	Enhancers	Liver	Liver
35	chr1:169240800-169241400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:169241000-169243000	Weak transcription	Fetal Intestine Small	intestine

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