Variant report

Variant	esv3492670
Chromosome Location	chr1:153232803-153235301
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	chr1:153234471..153235981-chr1:153239092..153241290,2	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374706272	chr1:153232832-153232833	Bivalent/Poised TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554941906	chr1:153232864-153232865	Bivalent/Poised TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143111460	chr1:153232872-153232873	Bivalent/Poised TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs61555689	chr1:153232909-153232910	Bivalent/Poised TSS Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs181486062	chr1:153232923-153232924	Bivalent/Poised TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73012565	chr1:153232939-153232940	Bivalent/Poised TSS Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs575385958	chr1:153232945-153232946	Bivalent/Poised TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184174316	chr1:153232971-153232972	Bivalent/Poised TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148090336	chr1:153233116-153233117	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577363247	chr1:153233130-153233131	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141823795	chr1:153233133-153233134	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150805409	chr1:153233157-153233158	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74658297	chr1:153233178-153233179	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573141497	chr1:153233215-153233216	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61803278	chr1:153233252-153233253	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541998140	chr1:153233283-153233284	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138113316	chr1:153233285-153233286	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189584460	chr1:153233314-153233315	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182001008	chr1:153233323-153233324	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564328876	chr1:153233335-153233336	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73012567	chr1:153233380-153233381	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs546620484	chr1:153233384-153233385	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368463751	chr1:153233410-153233411	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
24	rs374381868	chr1:153233421-153233422	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
25	rs543979083	chr1:153233435-153233436	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
26	rs377306869	chr1:153233437-153233438	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
27	rs566754734	chr1:153233440-153233441	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
28	rs529125851	chr1:153233458-153233459	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
29	rs370706383	chr1:153233462-153233463	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	rs374048010	chr1:153233464-153233465	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	rs367892399	chr1:153233471-153233472	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	rs150026164	chr1:153233488-153233489	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	rs371327758	chr1:153233500-153233501	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
34	rs573930987	chr1:153233503-153233504	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
35	rs6661601	chr1:153233510-153233511	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs569036793	chr1:153233524-153233525	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
37	rs537947689	chr1:153233555-153233556	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
38	rs557786450	chr1:153233569-153233570	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
39	rs1143389	chr1:153233578-153233579	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs533773105	chr1:153233697-153233698	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs1143390	chr1:153233701-153233702	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs573222961	chr1:153233748-153233749	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs542085907	chr1:153233864-153233865	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs555551529	chr1:153233891-153233892	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs79326926	chr1:153233933-153233934	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs111660507	chr1:153233935-153233936	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs527241826	chr1:153233971-153233972	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs561634896	chr1:153233991-153233992	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs547333583	chr1:153233992-153233993	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs11272549	chr1:153234010-153234011	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	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
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	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
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:340 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153232800-153233000	Enhancers	GM12878-XiMat	blood
2	chr1:153232800-153233200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr1:153232800-153233200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr1:153232800-153233400	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr1:153232800-153233600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr1:153232800-153234000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr1:153233000-153233200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
8	chr1:153233000-153233200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
9	chr1:153233000-153233200	Bivalent/Poised TSS	Primary B cells from cord blood	blood
10	chr1:153233000-153233200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
11	chr1:153233000-153233200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:153233000-153233200	Bivalent Enhancer	Fetal Stomach	stomach
13	chr1:153233000-153233200	Bivalent Enhancer	NH-A	brain
14	chr1:153233000-153233400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:153233000-153233400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr1:153233000-153233400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr1:153233000-153233400	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr1:153233000-153233400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
19	chr1:153233000-153233400	Bivalent Enhancer	Fetal Brain Male	brain
20	chr1:153233000-153233400	Flanking Active TSS	GM12878-XiMat	blood
21	chr1:153233000-153233600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:153233000-153234000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:153233200-153233400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
24	chr1:153233200-153233400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
25	chr1:153233200-153233400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
26	chr1:153233200-153233400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
27	chr1:153233200-153233400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr1:153233200-153233400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:153233200-153233400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:153233200-153233400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:153233200-153233400	Enhancers	Brain Anterior Caudate	brain
32	chr1:153233200-153233400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
33	chr1:153233200-153233400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
34	chr1:153233200-153233400	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr1:153233200-153233400	Bivalent Enhancer	Placenta	Placenta
36	chr1:153233200-153233400	Enhancers	Right Ventricle	heart
37	chr1:153233200-153233400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
38	chr1:153233200-153233600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:153233200-153233600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
40	chr1:153233200-153233600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
41	chr1:153233200-153233600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:153233200-153233800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:153233200-153233800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:153233200-153233800	Bivalent Enhancer	Adipose Nuclei	Adipose
45	chr1:153233200-153234000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:153233200-153234000	Bivalent/Poised TSS	Colonic Mucosa	Colon
47	chr1:153233200-153234200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:153233200-153234200	Active TSS	Aorta	Aorta
49	chr1:153233200-153234200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr1:153233200-153234200	Bivalent/Poised TSS	Fetal Stomach	stomach

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