Variant report

Variant	esv3344388
Chromosome Location	chr1:169310953-169313226
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 116 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12751929	chr1:169310957-169310958	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542845033	chr1:169310959-169310960	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77100467	chr1:169310977-169310978	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192659437	chr1:169311016-169311017	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550313552	chr1:169311020-169311021	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571641130	chr1:169311036-169311037	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185001022	chr1:169311047-169311048	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539396582	chr1:169311080-169311081	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs71635620	chr1:169311081-169311082	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs11811461	chr1:169311096-169311097	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534141295	chr1:169311097-169311098	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189980850	chr1:169311128-169311129	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555118615	chr1:169311180-169311181	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374955628	chr1:169311186-169311187	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145330649	chr1:169311193-169311194	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182159785	chr1:169311195-169311196	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145197797	chr1:169311213-169311214	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577520932	chr1:169311257-169311258	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184377486	chr1:169311280-169311281	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550730087	chr1:169311323-169311324	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189155883	chr1:169311356-169311357	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572647625	chr1:169311396-169311397	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543371192	chr1:169311434-169311435	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149098855	chr1:169311555-169311556	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576731442	chr1:169311577-169311578	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543890101	chr1:169311581-169311582	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574854873	chr1:169311600-169311601	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181959549	chr1:169311661-169311662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143183395	chr1:169311662-169311663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185006384	chr1:169311668-169311669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559723003	chr1:169311679-169311680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527573518	chr1:169311691-169311692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371528200	chr1:169311723-169311724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374739640	chr1:169311724-169311725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71121764	chr1:169311737-169311738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201398914	chr1:169311745-169311746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548882683	chr1:169311756-169311757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200145809	chr1:169311757-169311758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113174913	chr1:169311764-169311765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77192924	chr1:169311765-169311766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71523143	chr1:169311767-169311768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs537654404	chr1:169311804-169311805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549427932	chr1:169311810-169311811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557502839	chr1:169311814-169311815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200984189	chr1:169311816-169311817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181256378	chr1:169311835-169311836	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
47	rs376350393	chr1:169311846-169311847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539942696	chr1:169311853-169311854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186721095	chr1:169311864-169311865	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
50	rs373963123	chr1:169311903-169311904	Weak transcription	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
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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169265000-169320400	Weak transcription	Aorta	Aorta
2	chr1:169270200-169336400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:169273600-169312400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:169291000-169313200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:169296600-169324600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:169303000-169312600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:169303800-169317600	Weak transcription	Liver	Liver
8	chr1:169304800-169313200	Weak transcription	Spleen	Spleen
9	chr1:169305600-169312400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:169305600-169336400	Weak transcription	Left Ventricle	heart
11	chr1:169308000-169311200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:169309200-169333600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:169309400-169314600	Weak transcription	K562	blood
14	chr1:169309400-169336400	Weak transcription	Ovary	ovary
15	chr1:169310000-169311600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:169310200-169311000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:169310200-169311000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:169310200-169311000	ZNF genes & repeats	Fetal Intestine Small	intestine
19	chr1:169310200-169311200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:169310400-169311000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:169310400-169311000	ZNF genes & repeats	Fetal Intestine Large	intestine
22	chr1:169310600-169311000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
23	chr1:169310600-169311200	ZNF genes & repeats	Brain Germinal Matrix	brain
24	chr1:169310600-169311800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr1:169310600-169316800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:169310800-169311600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:169310800-169312600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:169310800-169332800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:169311000-169311400	Enhancers	Fetal Intestine Small	intestine
30	chr1:169311000-169311600	Enhancers	Fetal Intestine Large	intestine
31	chr1:169311000-169336400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:169311200-169315800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:169311400-169314600	Weak transcription	Fetal Intestine Small	intestine
34	chr1:169311600-169311800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:169311600-169313600	Weak transcription	Fetal Intestine Large	intestine
36	chr1:169311600-169314600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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