Variant report

Variant	esv1798738
Chromosome Location	chr2:180084168-180100584
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:180099014..180101971-chr2:180103448..180105283,2	MCF-7	breast:
2	chr2:180083866..180084412-chr2:180305093..180305735,3	K562	blood:
3	chr2:180084814..180086461-chr2:180088409..180090009,2	K562	blood:
4	chr2:180083493..180084369-chr2:180219016..180219973,3	MCF-7	breast:
5	chr2:180091710..180093707-chr2:180097296..180099649,3	MCF-7	breast:
6	chr2:180091158..180092678-chr2:180127658..180130558,2	MCF-7	breast:
7	chr2:180083391..180084449-chr2:180205175..180206192,5	MCF-7	breast:
8	chr2:180083560..180084369-chr2:180205061..180206359,5	MCF-7	breast:
9	chr2:180084814..180086461-chr2:180088409..180090009,2	K562	blood:
10	chr2:180099965..180101717-chr2:180103234..180105570,2	K562	blood:
11	chr2:180083839..180084369-chr2:180763413..180764243,2	K562	blood:
12	chr2:180091710..180093707-chr2:180097296..180099649,3	MCF-7	breast:
13	chr2:180091649..180092168-chr20:53297444..53298069,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000187231	chromatin interactions

Extended variants
information (count: 601 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:601 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6745433	chr2:180084168-180084169	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544861839	chr2:180084213-180084214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs367900429	chr2:180084217-180084218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183257704	chr2:180084263-180084264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35458167	chr2:180084339-180084340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530397283	chr2:180084368-180084369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114729668	chr2:180084408-180084409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540990798	chr2:180084501-180084502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560753510	chr2:180084529-180084530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529772139	chr2:180084572-180084573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187584306	chr2:180084594-180084595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs62177291	chr2:180084629-180084630	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs532758747	chr2:180084640-180084641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552878940	chr2:180084713-180084714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10207634	chr2:180084792-180084793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538573507	chr2:180084811-180084812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs66699135	chr2:180084822-180084823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs61617661	chr2:180084825-180084826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549641329	chr2:180085077-180085078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563096070	chr2:180085088-180085089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568410259	chr2:180085142-180085143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531827437	chr2:180085202-180085203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113504011	chr2:180085212-180085213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183640317	chr2:180085231-180085232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79028420	chr2:180085240-180085241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116264380	chr2:180085267-180085268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376740993	chr2:180085269-180085270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544825092	chr2:180085325-180085326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542949184	chr2:180085331-180085332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114972704	chr2:180085392-180085393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575176323	chr2:180085405-180085406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544207113	chr2:180085409-180085410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188168824	chr2:180085419-180085420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192873946	chr2:180085451-180085452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149208848	chr2:180085499-180085500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571563959	chr2:180085526-180085527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184491276	chr2:180085537-180085538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs28404031	chr2:180085544-180085545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568272191	chr2:180085545-180085546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7598744	chr2:180085564-180085565	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs561558387	chr2:180085565-180085566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200280865	chr2:180085607-180085608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552789128	chr2:180085609-180085610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528001801	chr2:180085615-180085616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547753252	chr2:180085639-180085640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114272858	chr2:180085655-180085656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143397856	chr2:180085658-180085659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548643252	chr2:180085659-180085660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186546412	chr2:180085660-180085661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368843556	chr2:180085662-180085663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:413 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180067600-180097600	Weak transcription	Primary B cells from cord blood	blood
2	chr2:180067600-180104600	Weak transcription	Fetal Kidney	kidney
3	chr2:180068000-180103800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:180068400-180092800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:180072400-180090400	Weak transcription	Pancreas	Pancrea
6	chr2:180077600-180086400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:180083200-180084200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:180083200-180084200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:180083400-180084200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:180083400-180084200	Enhancers	Brain Angular Gyrus	brain
11	chr2:180083400-180085400	Enhancers	Brain Hippocampus Middle	brain
12	chr2:180083400-180085600	Enhancers	Primary B cells from peripheral blood	blood
13	chr2:180083400-180085600	Enhancers	Brain Cingulate Gyrus	brain
14	chr2:180083600-180084200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:180083600-180084200	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr2:180083600-180084400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr2:180083800-180084600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:180083800-180085000	Weak transcription	Adipose Nuclei	Adipose
19	chr2:180083800-180086800	Weak transcription	Brain Anterior Caudate	brain
20	chr2:180083800-180087200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:180083800-180088800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:180083800-180088800	Weak transcription	Fetal Heart	heart
23	chr2:180083800-180089000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:180083800-180089000	Weak transcription	HepG2	liver
25	chr2:180083800-180089200	Weak transcription	Psoas Muscle	Psoas
26	chr2:180083800-180090400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr2:180083800-180091000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:180083800-180092000	Weak transcription	Aorta	Aorta
29	chr2:180083800-180102200	Weak transcription	HMEC	breast
30	chr2:180084000-180084200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:180084000-180085200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:180084000-180086800	Weak transcription	Colon Smooth Muscle	Colon
33	chr2:180084000-180086800	Weak transcription	Osteobl	bone
34	chr2:180084000-180088800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr2:180084000-180089000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:180084000-180089400	Weak transcription	Right Ventricle	heart
37	chr2:180084000-180090400	Weak transcription	Right Atrium	heart
38	chr2:180084000-180091000	Weak transcription	Small Intestine	intestine
39	chr2:180084200-180084600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:180084200-180086400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:180084200-180086600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:180084200-180089000	Weak transcription	Brain Angular Gyrus	brain
43	chr2:180084200-180089000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr2:180084200-180089000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr2:180084200-180091000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:180084400-180085200	Enhancers	Brain Substantia Nigra	brain
47	chr2:180084400-180089000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr2:180084600-180085400	Enhancers	Rectal Smooth Muscle	rectum
49	chr2:180084600-180086800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:180084800-180085200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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