Variant report

Variant	esv3356168
Chromosome Location	chr1:161422528-161428226
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148275719	chr1:161422771-161422772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141314484	chr1:161422793-161422794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs61802774	chr1:161422898-161422899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112380116	chr1:161422969-161422970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs137941089	chr1:161423043-161423044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143408266	chr1:161423160-161423161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147178065	chr1:161423263-161423264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140348816	chr1:161423280-161423281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149827114	chr1:161423549-161423550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529838393	chr1:161423551-161423552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199797357	chr1:161423935-161423936	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191607879	chr1:161423943-161423944	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144766876	chr1:161424054-161424055	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs9427056	chr1:161424124-161424125	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs148592026	chr1:161424259-161424260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140990705	chr1:161424273-161424274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145032270	chr1:161424277-161424278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78921538	chr1:161424345-161424346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9427057	chr1:161424381-161424382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146632320	chr1:161424669-161424670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111970151	chr1:161425423-161425424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113732124	chr1:161426260-161426261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141261883	chr1:161426628-161426629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546597367	chr1:161426794-161426795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368249356	chr1:161427130-161427131	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369605046	chr1:161427176-161427177	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566508462	chr1:161427188-161427189	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532444456	chr1:161427190-161427191	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552401602	chr1:161427225-161427226	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569064914	chr1:161427244-161427245	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61802779	chr1:161427282-161427283	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538009436	chr1:161427338-161427339	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201928752	chr1:161427403-161427404	Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs554487881	chr1:161427406-161427407	Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs114611625	chr1:161427439-161427440	Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
36	rs61802780	chr1:161427440-161427441	Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs375674318	chr1:161427443-161427444	Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs553738736	chr1:161427476-161427477	Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs56841996	chr1:161427488-161427489	Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs576875905	chr1:161427490-161427491	Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs151284674	chr1:161427491-161427492	Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs545799066	chr1:161427494-161427495	Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs61802781	chr1:161427496-161427497	Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs4047682	chr1:161427505-161427506	Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs2499426	chr1:161427561-161427562	Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs199922860	chr1:161427569-161427570	Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs61802783	chr1:161427605-161427606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373891426	chr1:161427699-161427700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576681920	chr1:161427753-161427754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542382070	chr1:161427843-161427844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	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
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	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
Bladder cancer	21909424	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Idiopathic thrombocytopenic purpura	17827395	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161415000-161423800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr1:161415000-161423800	Weak transcription	Gastric	stomach
3	chr1:161415000-161423800	Weak transcription	Pancreas	Pancrea
4	chr1:161415000-161423800	Weak transcription	Spleen	Spleen
5	chr1:161423800-161424000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:161423800-161424000	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
7	chr1:161423800-161424000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
8	chr1:161423800-161424000	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:161423800-161424000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:161423800-161424000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:161423800-161424000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
12	chr1:161423800-161424000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:161423800-161424000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:161423800-161424000	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:161423800-161424000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
16	chr1:161423800-161424000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
17	chr1:161423800-161424000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
18	chr1:161423800-161424000	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr1:161423800-161424000	Bivalent Enhancer	Placenta	Placenta
20	chr1:161423800-161424000	Bivalent Enhancer	Left Ventricle	heart
21	chr1:161423800-161424000	ZNF genes & repeats	Pancreas	Pancrea
22	chr1:161423800-161424000	Flanking Bivalent TSS/Enh	Right Ventricle	heart
23	chr1:161423800-161424000	Flanking Bivalent TSS/Enh	Spleen	Spleen
24	chr1:161423800-161424000	Enhancers	HMEC	breast
25	chr1:161423800-161424000	Enhancers	K562	blood
26	chr1:161423800-161424200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr1:161423800-161424200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
28	chr1:161423800-161424200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:161423800-161424200	ZNF genes & repeats	Aorta	Aorta
30	chr1:161423800-161424200	ZNF genes & repeats	Gastric	stomach
31	chr1:161424000-161424200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:161424000-161424200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr1:161424000-161424200	Bivalent Enhancer	Spleen	Spleen
34	chr1:161424200-161426800	Weak transcription	HMEC	breast
35	chr1:161424200-161427000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:161424200-161427000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:161424200-161427200	Weak transcription	Gastric	stomach
38	chr1:161424400-161430400	Weak transcription	Right Atrium	heart
39	chr1:161426800-161427000	Enhancers	HMEC	breast
40	chr1:161427000-161427200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
41	chr1:161427000-161427200	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:161427000-161427200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:161427000-161427200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:161427000-161427200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:161427000-161427200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:161427000-161427400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
47	chr1:161427000-161427400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
48	chr1:161427000-161427400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
49	chr1:161427000-161427400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:161427000-161427400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell

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