Variant report

Variant	esv2577218
Chromosome Location	chr2:73660263-73661690
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	chr2:73613233..73615069-chr2:73661651..73663882,2	MCF-7	breast:
2	chr2:73612204..73614467-chr2:73659313..73661505,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116127	chromatin interactions

Extended variants
information (count: 46 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148427078	chr2:73660287-73660288	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs376867233	chr2:73660322-73660323	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs538640226	chr2:73660367-73660368	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs142611220	chr2:73660379-73660380	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs185584675	chr2:73660416-73660417	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs139252425	chr2:73660454-73660455	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs536299809	chr2:73660491-73660492	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs553621716	chr2:73660566-73660567	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs555153242	chr2:73660597-73660598	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs573470089	chr2:73660639-73660640	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs537773547	chr2:73660701-73660702	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs556164205	chr2:73660709-73660710	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs117371862	chr2:73660717-73660718	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs544672516	chr2:73660730-73660731	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs560045559	chr2:73660736-73660737	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs572177824	chr2:73660767-73660768	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs189899840	chr2:73660791-73660792	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs536001555	chr2:73660804-73660805	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs72909340	chr2:73660824-73660825	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs531919094	chr2:73660846-73660847	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs550527519	chr2:73660867-73660868	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs565430854	chr2:73660872-73660873	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs115094583	chr2:73660887-73660888	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs553067740	chr2:73660889-73660890	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs182111573	chr2:73660900-73660901	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs370808359	chr2:73660912-73660913	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs116357348	chr2:73660926-73660927	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs139900579	chr2:73660958-73660959	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs532212413	chr2:73661002-73661003	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs567154608	chr2:73661004-73661005	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs187406250	chr2:73661019-73661020	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs115455851	chr2:73661043-73661044	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs577860379	chr2:73661080-73661081	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs7599369	chr2:73661107-73661108	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs192119842	chr2:73661158-73661159	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs572042972	chr2:73661161-73661162	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs184013764	chr2:73661191-73661192	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs560948720	chr2:73661345-73661346	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs563528239	chr2:73661349-73661350	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs7585663	chr2:73661357-73661358	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs188508053	chr2:73661379-73661380	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs192006911	chr2:73661543-73661544	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs532703729	chr2:73661601-73661602	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs151216081	chr2:73661615-73661616	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs182610496	chr2:73661630-73661631	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs139710113	chr2:73661688-73661689	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	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
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73622800-73662800	Weak transcription	Right Ventricle	heart
2	chr2:73626800-73662600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:73626800-73662800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:73626800-73662800	Weak transcription	Aorta	Aorta
5	chr2:73626800-73663400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:73626800-73664000	Weak transcription	Thymus	Thymus
7	chr2:73627400-73664400	Weak transcription	Pancreas	Pancrea
8	chr2:73628800-73663000	Weak transcription	Hela-S3	cervix
9	chr2:73633200-73662800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:73634000-73661400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:73634000-73663200	Weak transcription	Psoas Muscle	Psoas
12	chr2:73634400-73662000	Weak transcription	Lung	lung
13	chr2:73634400-73662800	Weak transcription	Esophagus	oesophagus
14	chr2:73634600-73661800	Weak transcription	Brain Germinal Matrix	brain
15	chr2:73637600-73662800	Weak transcription	Fetal Stomach	stomach
16	chr2:73637800-73662400	Weak transcription	A549	lung
17	chr2:73637800-73663600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr2:73637800-73676200	Weak transcription	Fetal Brain Male	brain
19	chr2:73638600-73661400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:73639200-73675400	Weak transcription	HMEC	breast
21	chr2:73642200-73666000	Weak transcription	NHLF	lung
22	chr2:73643400-73663000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr2:73644600-73662800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:73645400-73662600	Weak transcription	Brain Substantia Nigra	brain
25	chr2:73645400-73675200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr2:73645600-73661800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:73645600-73663000	Weak transcription	NHDF-Ad	bronchial
28	chr2:73645600-73675200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:73645600-73676600	Weak transcription	NH-A	brain
30	chr2:73645600-73685600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:73645800-73662600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr2:73645800-73662800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:73646000-73664000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:73646200-73661400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:73646200-73661800	Strong transcription	Dnd41	blood
36	chr2:73646200-73662800	Weak transcription	Brain Anterior Caudate	brain
37	chr2:73646400-73675200	Weak transcription	Osteobl	bone
38	chr2:73646600-73662600	Weak transcription	Fetal Brain Female	brain
39	chr2:73646600-73662800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr2:73646600-73663400	Weak transcription	Fetal Heart	heart
41	chr2:73646600-73664200	Weak transcription	Small Intestine	intestine
42	chr2:73646800-73662600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr2:73646800-73662800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:73646800-73663200	Weak transcription	HSMMtube	muscle
45	chr2:73647000-73684000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:73648400-73663200	Weak transcription	Fetal Kidney	kidney
47	chr2:73648600-73662600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:73649400-73663000	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr2:73649600-73668000	Weak transcription	Gastric	stomach
50	chr2:73650200-73662800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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