Variant report

Variant	esv1819739
Chromosome Location	chr2:77103474-77162163
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:77116319..77118650-chr2:77122168..77124589,2	K562	blood:
2	chr2:77116319..77118650-chr2:77122168..77124589,2	K562	blood:
3	chr2:77111498..77113879-chr21:46359661..46361542,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160256	chromatin interactions
ENSG00000183250	chromatin interactions

Extended variants
information (count: 1028 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1028 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556905279	chr2:77110249-77110250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs72821245	chr2:77110270-77110271	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs571077852	chr2:77110321-77110322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139398690	chr2:77110332-77110333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145604792	chr2:77110346-77110347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528281904	chr2:77110360-77110361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551278491	chr2:77111526-77111527	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs545107334	chr2:77111533-77111534	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs72921656	chr2:77111545-77111546	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs527315475	chr2:77111601-77111602	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs530237779	chr2:77111608-77111609	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs72921658	chr2:77111615-77111616	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs58157747	chr2:77111628-77111629	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs10200209	chr2:77111643-77111644	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs550718429	chr2:77111645-77111646	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs528066149	chr2:77111663-77111664	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs192732689	chr2:77111719-77111720	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs569132828	chr2:77111745-77111746	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs10200557	chr2:77111809-77111810	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs138629912	chr2:77111811-77111812	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs566732636	chr2:77111817-77111818	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs185107513	chr2:77111860-77111861	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs571244464	chr2:77111906-77111907	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs111777532	chr2:77111914-77111915	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs577843061	chr2:77111950-77111951	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs558565250	chr2:77111978-77111979	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs555689571	chr2:77111981-77111982	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs557233797	chr2:77112016-77112017	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs573940732	chr2:77112100-77112101	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs538141087	chr2:77112109-77112110	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs556365564	chr2:77112158-77112159	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs577781439	chr2:77112169-77112170	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs576724357	chr2:77112172-77112173	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs146081178	chr2:77112190-77112191	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs1929448	chr2:77112244-77112245	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs189077807	chr2:77112278-77112279	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs548708018	chr2:77112311-77112312	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs181909910	chr2:77112406-77112407	Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs535995232	chr2:77112412-77112413	Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs17333383	chr2:77112487-77112488	Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs544522521	chr2:77112502-77112503	Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs186570734	chr2:77112504-77112505	Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs6740369	chr2:77112587-77112588	Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs374943399	chr2:77112589-77112590	Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs77854575	chr2:77112617-77112618	Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs540608932	chr2:77112619-77112620	Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs540960764	chr2:77112620-77112621	Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs375242249	chr2:77112652-77112653	Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs527791772	chr2:77112742-77112743	Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs549350583	chr2:77112752-77112753	Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Epilepsy	22083797	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77110200-77110400	Enhancers	Pancreas	Pancrea
2	chr2:77112400-77113000	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr2:77116400-77117000	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr2:77122400-77123200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr2:77122400-77123200	Enhancers	HepG2	liver
6	chr2:77123400-77124400	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr2:77144800-77145200	Enhancers	Adipose Nuclei	Adipose
8	chr2:77146400-77146600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:77146600-77167400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:77153600-77154600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:77154600-77155800	Enhancers	Fetal Brain Male	brain
12	chr2:77154800-77156400	Enhancers	Fetal Brain Female	brain
13	chr2:77155800-77157000	Weak transcription	Fetal Brain Male	brain
14	chr2:77156400-77156600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:77156400-77157800	Weak transcription	Fetal Brain Female	brain
16	chr2:77157000-77157600	Enhancers	Fetal Brain Male	brain
17	chr2:77158000-77158200	Enhancers	Fetal Brain Female	brain
18	chr2:77158200-77158600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:77158600-77158800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:77158600-77158800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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