Variant report

Variant	esv1004274
Chromosome Location	chr2:72314859-72324310
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:72318393..72321374-chr2:72369009..72370555,2	K562	blood:
2	chr2:72312132..72314646-chr2:72315040..72318277,3	MCF-7	breast:
3	chr2:72315191..72316972-chr2:72319287..72321034,2	MCF-7	breast:
4	chr2:72315191..72316972-chr2:72319287..72321034,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000003137	chromatin interactions

Extended variants
information (count: 374 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78832973	chr2:72314859-72314860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs367642893	chr2:72314861-72314862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529858834	chr2:72314870-72314871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375514654	chr2:72314887-72314888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547932365	chr2:72314890-72314891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570142019	chr2:72314897-72314898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530946705	chr2:72314905-72314906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552621693	chr2:72314917-72314918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570792746	chr2:72314921-72314922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534986561	chr2:72314926-72314927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115410730	chr2:72314929-72314930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568724125	chr2:72314957-72314958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369919121	chr2:72314958-72314959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546042949	chr2:72314996-72314997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191720793	chr2:72315017-72315018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575792391	chr2:72315043-72315044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10200295	chr2:72315060-72315061	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs375188822	chr2:72315070-72315071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558604482	chr2:72315075-72315076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576777518	chr2:72315089-72315090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184023931	chr2:72315094-72315095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188755726	chr2:72315097-72315098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145139055	chr2:72315099-72315100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs180673201	chr2:72315118-72315119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561436115	chr2:72315132-72315133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563381152	chr2:72315182-72315183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149108841	chr2:72315267-72315268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373457486	chr2:72315274-72315275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147044623	chr2:72315303-72315304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75420618	chr2:72315316-72315317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528497719	chr2:72315400-72315401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374569675	chr2:72315458-72315459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530453441	chr2:72315492-72315493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546976764	chr2:72315510-72315511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568456493	chr2:72315518-72315519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536203331	chr2:72315560-72315561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551273235	chr2:72315591-72315592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569384332	chr2:72315626-72315627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539988829	chr2:72315681-72315682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4852852	chr2:72315712-72315713	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs183798239	chr2:72315744-72315745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190384131	chr2:72315783-72315784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370490284	chr2:72315789-72315790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564077431	chr2:72315825-72315826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574090080	chr2:72315874-72315875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541758908	chr2:72315892-72315893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182506536	chr2:72315897-72315898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147661019	chr2:72315902-72315903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186695602	chr2:72315917-72315918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115563466	chr2:72315941-72315942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72310400-72315800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:72313600-72319200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:72314200-72316800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:72315400-72315800	Enhancers	Pancreas	Pancrea
5	chr2:72316600-72317800	Enhancers	K562	blood
6	chr2:72316800-72317000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:72316800-72317800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:72316800-72318200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:72317400-72317600	Enhancers	Small Intestine	intestine
10	chr2:72317600-72317800	Enhancers	Hela-S3	cervix
11	chr2:72317800-72319000	Weak transcription	Hela-S3	cervix
12	chr2:72317800-72320200	Enhancers	Duodenum Mucosa	Duodenum
13	chr2:72318000-72318200	Enhancers	Fetal Intestine Large	intestine
14	chr2:72318000-72318600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr2:72318200-72318800	Weak transcription	Fetal Intestine Large	intestine
16	chr2:72318200-72319800	Enhancers	Fetal Intestine Small	intestine
17	chr2:72318200-72331800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:72318800-72320200	Enhancers	NHEK	skin
19	chr2:72318800-72320800	Enhancers	Fetal Intestine Large	intestine
20	chr2:72319000-72319800	Enhancers	Hela-S3	cervix
21	chr2:72319000-72320000	Enhancers	HMEC	breast
22	chr2:72319000-72320600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:72319200-72319600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:72319200-72319800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:72319200-72319800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:72319200-72319800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:72319400-72319800	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr2:72320600-72321200	Bivalent Enhancer	Small Intestine	intestine
29	chr2:72322000-72323800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr2:72322200-72322800	Enhancers	Psoas Muscle	Psoas
31	chr2:72322200-72323000	Enhancers	Skeletal Muscle Male	skeletal muscle

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