Variant report

Variant	esv1809993
Chromosome Location	chr1:169214651-169240812
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169208518..169210284-chr1:169213594..169216583,2	K562	blood:
2	chr1:169210444..169212042-chr1:169215118..169217438,2	K562	blood:
3	chr1:169192162..169194718-chr1:169212473..169215131,2	K562	blood:

Extended variants
information (count: 886 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:886 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559441277	chr1:169214670-169214671	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs540784958	chr1:169214713-169214714	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs530110902	chr1:169214718-169214719	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs548800735	chr1:169214722-169214723	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs567116228	chr1:169214729-169214730	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs537797966	chr1:169214735-169214736	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs550052203	chr1:169214743-169214744	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs571413482	chr1:169214768-169214769	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs373553045	chr1:169214778-169214779	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs3766079	chr1:169214801-169214802	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs535769914	chr1:169214802-169214803	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs553776819	chr1:169214817-169214818	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs114515064	chr1:169214822-169214823	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs536677678	chr1:169214860-169214861	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs368073071	chr1:169214944-169214945	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs145308874	chr1:169214961-169214962	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs1024341	chr1:169214988-169214989	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs1024340	chr1:169215003-169215004	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs147182041	chr1:169215040-169215041	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs3766082	chr1:169215068-169215069	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs111314080	chr1:169215242-169215243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541441986	chr1:169215318-169215319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12074492	chr1:169215363-169215364	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs114259132	chr1:169215485-169215486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548275168	chr1:169215495-169215496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563395731	chr1:169215505-169215506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531543595	chr1:169215570-169215571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72637228	chr1:169215574-169215575	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs79653460	chr1:169215587-169215588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568730204	chr1:169215598-169215599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185676122	chr1:169215653-169215654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565673593	chr1:169215669-169215670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369762066	chr1:169215708-169215709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190092862	chr1:169215734-169215735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554711019	chr1:169215830-169215831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs3216527	chr1:169215856-169215857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181297058	chr1:169215857-169215858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75664534	chr1:169215864-169215865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185984414	chr1:169215912-169215913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558862648	chr1:169215975-169215976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577499167	chr1:169216041-169216042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541317215	chr1:169216045-169216046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552998409	chr1:169216049-169216050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563226737	chr1:169216101-169216102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191651833	chr1:169216118-169216119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145904251	chr1:169216123-169216124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371092576	chr1:169216127-169216128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539677878	chr1:169216176-169216177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556201902	chr1:169216227-169216228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs80240691	chr1:169216315-169216316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169172600-169227000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:169210600-169215400	Weak transcription	Stomach Mucosa	stomach
3	chr1:169210800-169216600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:169214400-169214800	Active TSS	Ovary	ovary
5	chr1:169214400-169215200	Active TSS	Liver	Liver
6	chr1:169214600-169214800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr1:169214600-169215000	Active TSS	A549	lung
8	chr1:169214800-169215000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr1:169214800-169216400	Weak transcription	Ovary	ovary
10	chr1:169215000-169215200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr1:169215000-169215200	Flanking Active TSS	A549	lung
12	chr1:169215200-169215600	Enhancers	Liver	Liver
13	chr1:169215200-169219000	Weak transcription	A549	lung
14	chr1:169215400-169215600	Enhancers	Pancreas	Pancrea
15	chr1:169215400-169215600	Enhancers	Stomach Mucosa	stomach
16	chr1:169215600-169216000	Weak transcription	Liver	Liver
17	chr1:169216000-169216200	Enhancers	Liver	Liver
18	chr1:169216200-169219600	Weak transcription	Liver	Liver
19	chr1:169218200-169218800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:169218600-169220600	Enhancers	Hela-S3	cervix
21	chr1:169218800-169219200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr1:169218800-169219200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr1:169219000-169219800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr1:169219000-169219800	Enhancers	A549	lung
25	chr1:169219000-169226400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:169219200-169219400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:169219200-169220000	Enhancers	HUVEC	blood vessel
28	chr1:169219200-169220800	Enhancers	HepG2	liver
29	chr1:169219400-169219800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:169219400-169219800	Enhancers	NHEK	skin
31	chr1:169219400-169227000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:169219600-169220600	Enhancers	Liver	Liver
33	chr1:169219800-169220000	Flanking Active TSS	A549	lung
34	chr1:169220000-169220200	Enhancers	A549	lung
35	chr1:169220000-169220400	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr1:169220000-169229800	Weak transcription	HUVEC	blood vessel
37	chr1:169220600-169230000	Weak transcription	Liver	Liver
38	chr1:169224800-169227400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:169225000-169227000	Weak transcription	Fetal Kidney	kidney
40	chr1:169225000-169229800	Weak transcription	Primary T cells from cord blood	blood
41	chr1:169225400-169227000	Weak transcription	Primary B cells from cord blood	blood
42	chr1:169226400-169227400	ZNF genes & repeats	Fetal Stomach	stomach
43	chr1:169226400-169227600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:169226400-169227600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:169226400-169227600	ZNF genes & repeats	Fetal Intestine Small	intestine
46	chr1:169226800-169228200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:169227000-169227600	ZNF genes & repeats	Primary B cells from cord blood	blood
48	chr1:169227000-169227600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:169227000-169227600	Strong transcription	Fetal Kidney	kidney
50	chr1:169227000-169228400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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