Variant report

Variant	esv3445459
Chromosome Location	chr1:153886352-153886779
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	chr1:153885199..153886799-chr1:153933054..153934567,2	MCF-7	breast:
2	chr1:153884633..153886577-chr1:153898613..153901128,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535069499	chr1:153886371-153886372	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529962637	chr1:153886393-153886394	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs202162582	chr1:153886408-153886409	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7415816	chr1:153886419-153886420	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs572019799	chr1:153886458-153886459	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545983499	chr1:153886463-153886464	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368818583	chr1:153886496-153886497	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564085361	chr1:153886516-153886517	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs137901561	chr1:153886517-153886518	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185975037	chr1:153886525-153886526	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561941891	chr1:153886547-153886548	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12031492	chr1:153886552-153886553	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143470898	chr1:153886601-153886602	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192017013	chr1:153886641-153886642	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs367925738	chr1:153886643-153886644	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181799992	chr1:153886648-153886649	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559817809	chr1:153886653-153886654	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575389145	chr1:153886656-153886657	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12031555	chr1:153886699-153886700	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12031556	chr1:153886701-153886702	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372430040	chr1:153886704-153886705	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs199586222	chr1:153886729-153886730	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538102112	chr1:153886753-153886754	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12032914	chr1:153886762-153886763	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:113)

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
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Liver carcinoma	19366792	CNVD
Neuroblastoma	18923191	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153825800-153887200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:153837000-153893000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:153846200-153894200	Weak transcription	Esophagus	oesophagus
4	chr1:153853800-153892200	Weak transcription	Pancreas	Pancrea
5	chr1:153853800-153893400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:153854000-153892600	Weak transcription	Colonic Mucosa	Colon
7	chr1:153854400-153892400	Weak transcription	Aorta	Aorta
8	chr1:153854600-153892200	Weak transcription	HSMM	muscle
9	chr1:153855000-153886800	Weak transcription	Gastric	stomach
10	chr1:153855000-153886800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr1:153855000-153887200	Weak transcription	Ovary	ovary
12	chr1:153855000-153891800	Weak transcription	NHEK	skin
13	chr1:153855000-153892400	Weak transcription	NHLF	lung
14	chr1:153855000-153892800	Weak transcription	NH-A	brain
15	chr1:153855400-153892000	Weak transcription	HMEC	breast
16	chr1:153855600-153892200	Weak transcription	Fetal Kidney	kidney
17	chr1:153856000-153890400	Weak transcription	Brain Angular Gyrus	brain
18	chr1:153856000-153891600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:153860000-153890400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:153861200-153891600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:153861200-153892400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:153861400-153890800	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:153862600-153892000	Weak transcription	Small Intestine	intestine
24	chr1:153866400-153894000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:153866600-153891600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:153866800-153887000	Weak transcription	Left Ventricle	heart
27	chr1:153866800-153892200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:153866800-153892200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr1:153869600-153888200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:153870000-153892400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr1:153870200-153890400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:153870600-153888000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:153870800-153892400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr1:153871800-153890600	Weak transcription	Brain Germinal Matrix	brain
35	chr1:153872000-153887400	Weak transcription	Lung	lung
36	chr1:153872000-153890800	Weak transcription	Fetal Brain Male	brain
37	chr1:153872000-153892400	Weak transcription	Placenta	Placenta
38	chr1:153872000-153892400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:153872200-153890200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr1:153872200-153892200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr1:153872200-153892400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr1:153872400-153891800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:153872400-153891800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:153872800-153890200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr1:153873200-153890200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:153873800-153890400	Weak transcription	Brain Anterior Caudate	brain
47	chr1:153874000-153891800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr1:153874000-153892200	Weak transcription	Brain Substantia Nigra	brain
49	chr1:153874600-153892400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:153875400-153891600	Weak transcription	Right Atrium	heart

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