Variant report

Variant	esv2476624
Chromosome Location	chr1:155438041-155439559
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	chr1:155439465..155441784-chr1:155447599..155450347,3	K562	blood:
2	chr1:155431476..155435286-chr1:155435557..155439516,4	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571747859	chr1:155438053-155438054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142979754	chr1:155438155-155438156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116045913	chr1:155438187-155438188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576186541	chr1:155438214-155438215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181949874	chr1:155438240-155438241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558511405	chr1:155438258-155438259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529540261	chr1:155438383-155438384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541745542	chr1:155438451-155438452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77056155	chr1:155438477-155438478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533415414	chr1:155438495-155438496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200516392	chr1:155438563-155438564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551853151	chr1:155438644-155438645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376612396	chr1:155438661-155438662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570172454	chr1:155438715-155438716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531500730	chr1:155438832-155438833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549733574	chr1:155438865-155438866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150928540	chr1:155438867-155438868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35749283	chr1:155438922-155438923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542022203	chr1:155438939-155438940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs202079516	chr1:155438940-155438941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562066037	chr1:155438981-155438982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs71991918	chr1:155438992-155438993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547716199	chr1:155439027-155439028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10908467	chr1:155439062-155439063	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs149687163	chr1:155439093-155439094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116829660	chr1:155439134-155439135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575184718	chr1:155439135-155439136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184351936	chr1:155439206-155439207	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537176829	chr1:155439253-155439254	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555668367	chr1:155439265-155439266	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147807118	chr1:155439347-155439348	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141245630	chr1:155439351-155439352	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537963265	chr1:155439392-155439393	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560001314	chr1:155439400-155439401	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs578041783	chr1:155439413-155439414	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377583498	chr1:155439502-155439503	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563745774	chr1:155439509-155439510	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531005699	chr1:155439528-155439529	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549495208	chr1:155439541-155439542	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554613236	chr1:155439553-155439554	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
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
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
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
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
Neuroblastoma	18923191	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Dihydropyrimidine dehydrogenase deficiency	18421352	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155362800-155442400	Weak transcription	Right Ventricle	heart
2	chr1:155364400-155450800	Weak transcription	HUVEC	blood vessel
3	chr1:155404600-155441400	Weak transcription	Esophagus	oesophagus
4	chr1:155408600-155444200	Weak transcription	Fetal Brain Male	brain
5	chr1:155408600-155448400	Weak transcription	Fetal Brain Female	brain
6	chr1:155408800-155441000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:155408800-155441000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:155408800-155441200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:155408800-155447600	Weak transcription	Aorta	Aorta
10	chr1:155420600-155441000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:155420800-155439400	Weak transcription	Fetal Kidney	kidney
12	chr1:155421600-155441000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:155421600-155441600	Weak transcription	Brain Germinal Matrix	brain
14	chr1:155421800-155441200	Weak transcription	Ovary	ovary
15	chr1:155421800-155447800	Weak transcription	Lung	lung
16	chr1:155423000-155441200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:155423400-155441200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:155424400-155441000	Weak transcription	Fetal Muscle Leg	muscle
19	chr1:155424600-155462600	Weak transcription	Pancreas	Pancrea
20	chr1:155426200-155441000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:155426400-155448000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:155426400-155455800	Weak transcription	Stomach Mucosa	stomach
23	chr1:155427000-155441000	Weak transcription	Small Intestine	intestine
24	chr1:155427400-155440600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:155427600-155441000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:155428200-155440600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr1:155428200-155441000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:155428600-155441200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:155428600-155441200	Weak transcription	HepG2	liver
30	chr1:155428600-155451600	Weak transcription	Gastric	stomach
31	chr1:155429400-155441000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:155429800-155441000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:155429800-155441000	Weak transcription	Thymus	Thymus
34	chr1:155429800-155441200	Weak transcription	Fetal Stomach	stomach
35	chr1:155429800-155441200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr1:155430400-155448200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:155432400-155441000	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr1:155432400-155441000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:155432400-155441200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:155432400-155441200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr1:155432400-155441200	Weak transcription	Fetal Lung	lung
42	chr1:155432400-155441200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr1:155432400-155441200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr1:155432600-155441000	Weak transcription	Placenta	Placenta
45	chr1:155432600-155441200	Weak transcription	K562	blood
46	chr1:155433000-155441000	Weak transcription	Dnd41	blood
47	chr1:155433600-155439600	Weak transcription	Fetal Intestine Small	intestine
48	chr1:155433800-155438200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:155433800-155441000	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr1:155433800-155441000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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