Variant report

Variant	esv3362664
Chromosome Location	chr1:154745128-154748426
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154741499..154743440-chr1:154745848..154747913,2	K562	blood:
2	chr1:154736362..154738572-chr1:154746811..154749808,2	K562	blood:
3	chr1:154745091..154747433-chr1:154836698..154838219,2	MCF-7	breast:
4	chr1:154743914..154746256-chr1:154842086..154843825,2	MCF-7	breast:
5	chr1:154744584..154747460-chr1:154748764..154751620,2	K562	blood:

Variant related genes	Relation type
ENSG00000143603	chromatin interactions

Extended variants
information (count: 106 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552877025	chr1:154745172-154745173	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs60161870	chr1:154745188-154745189	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs200109039	chr1:154745206-154745207	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs11264259	chr1:154745234-154745235	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs144798465	chr1:154745256-154745257	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs535923776	chr1:154745267-154745268	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs11264260	chr1:154745270-154745271	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs572720330	chr1:154745380-154745381	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs530268806	chr1:154745389-154745390	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs57482361	chr1:154745417-154745418	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs116487252	chr1:154745422-154745423	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs148577073	chr1:154745426-154745427	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs562496470	chr1:154745437-154745438	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs12047201	chr1:154745455-154745456	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs568985369	chr1:154745456-154745457	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs541924225	chr1:154745475-154745476	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs143417656	chr1:154745511-154745512	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs12084283	chr1:154745556-154745557	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs145673382	chr1:154745579-154745580	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs552639895	chr1:154745591-154745592	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs564762659	chr1:154745611-154745612	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs183187645	chr1:154745613-154745614	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs550500843	chr1:154745665-154745666	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs75360910	chr1:154745705-154745706	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs556864649	chr1:154745726-154745727	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs536064728	chr1:154745738-154745739	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs547954218	chr1:154745784-154745785	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs566594551	chr1:154745786-154745787	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs533534970	chr1:154745792-154745793	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs201781722	chr1:154745805-154745806	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs187771738	chr1:154745847-154745848	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs576433149	chr1:154745867-154745868	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs537706032	chr1:154745868-154745869	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs192690839	chr1:154745976-154745977	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs183889030	chr1:154746040-154746041	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs542037537	chr1:154746051-154746052	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs147128184	chr1:154746085-154746086	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs552872576	chr1:154746109-154746110	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs148330560	chr1:154746112-154746113	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs187782762	chr1:154746114-154746115	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs34484926	chr1:154746126-154746127	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs192213135	chr1:154746177-154746178	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs564429935	chr1:154746200-154746201	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs531750045	chr1:154746297-154746298	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs574792778	chr1:154746319-154746320	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs550465870	chr1:154746355-154746356	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs562430123	chr1:154746359-154746360	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs529449369	chr1:154746395-154746396	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs184663823	chr1:154746404-154746405	Weak transcription Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs140344657	chr1:154746421-154746422	Weak transcription Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
Ewing''s sarcoma	21437220	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
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
Non-syndromic sensorineural hearing loss	15273396	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
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
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
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Liver carcinoma	19366792	CNVD
Neuroblastoma	18923191	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154733400-154746400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:154740400-154746000	Weak transcription	Brain Germinal Matrix	brain
3	chr1:154740400-154747600	Weak transcription	Fetal Brain Male	brain
4	chr1:154740800-154746000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:154740800-154746200	Weak transcription	Brain Angular Gyrus	brain
6	chr1:154740800-154764000	Weak transcription	Right Ventricle	heart
7	chr1:154741200-154745600	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:154741400-154745200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:154741400-154745600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:154741400-154745600	Weak transcription	Thymus	Thymus
11	chr1:154741400-154746200	Weak transcription	Brain Substantia Nigra	brain
12	chr1:154741400-154746600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:154741800-154745800	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:154741800-154746000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:154742200-154751400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:154743600-154745800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr1:154743800-154746000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr1:154744000-154745400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr1:154744200-154745200	Strong transcription	Fetal Stomach	stomach
20	chr1:154744400-154745800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr1:154744400-154746200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:154744400-154746200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:154744600-154745800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr1:154744600-154745800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:154744800-154745200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:154744800-154745600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr1:154744800-154745600	Weak transcription	Fetal Muscle Leg	muscle
28	chr1:154744800-154745600	Weak transcription	Pancreas	Pancrea
29	chr1:154744800-154745800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr1:154744800-154746000	Weak transcription	GM12878-XiMat	blood
31	chr1:154744800-154746400	Weak transcription	Spleen	Spleen
32	chr1:154744800-154747200	Weak transcription	Fetal Brain Female	brain
33	chr1:154744800-154749200	Enhancers	Brain Anterior Caudate	brain
34	chr1:154744800-154749400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:154745000-154745600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr1:154745000-154745600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr1:154745000-154745800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr1:154745000-154745800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:154745000-154745800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr1:154745000-154746000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr1:154745000-154746600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:154745000-154758200	Weak transcription	Colonic Mucosa	Colon
43	chr1:154745200-154745600	Weak transcription	Fetal Stomach	stomach
44	chr1:154745200-154748200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:154745200-154750600	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr1:154745400-154745600	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr1:154745600-154745800	Enhancers	Thymus	Thymus
48	chr1:154745600-154746600	Enhancers	Pancreas	Pancrea
49	chr1:154745600-154746600	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr1:154745600-154747200	Enhancers	Brain Hippocampus Middle	brain

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