Variant report

Variant	esv3426219
Chromosome Location	chr2:149286782-149290980
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:149287117..149288965-chr2:149289361..149291496,2	K562	blood:
2	chr2:149282393..149284860-chr2:149290355..149292370,2	K562	blood:
3	chr2:149287117..149288965-chr2:149289361..149291496,2	K562	blood:
4	chr2:149286910..149287910-chrX:103028804..103029356,2	MCF-7	breast:
5	chr2:149281538..149284330-chr2:149286609..149289120,3	K562	blood:

Variant related genes	Relation type
ENSG00000123560	chromatin interactions

Extended variants
information (count: 169 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:169 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370314430	chr2:149286794-149286795	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs539152219	chr2:149286795-149286796	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs568062367	chr2:149286801-149286802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548962894	chr2:149286813-149286814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs180932928	chr2:149286822-149286823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575540759	chr2:149286825-149286826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536447077	chr2:149286844-149286845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554608577	chr2:149286878-149286879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184946374	chr2:149286890-149286891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75495557	chr2:149286903-149286904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540109137	chr2:149286906-149286907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143364526	chr2:149286976-149286977	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs9287417	chr2:149286978-149286979	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs576393746	chr2:149287005-149287006	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs543936045	chr2:149287009-149287010	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs76275090	chr2:149287109-149287110	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs79783926	chr2:149287233-149287234	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs549542256	chr2:149287304-149287305	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs561281861	chr2:149287318-149287319	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs528783215	chr2:149287319-149287320	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs547285405	chr2:149287327-149287328	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs571705197	chr2:149287330-149287331	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs183653407	chr2:149287373-149287374	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs546397119	chr2:149287429-149287430	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs4972369	chr2:149287440-149287441	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs367573098	chr2:149287445-149287446	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs4972370	chr2:149287452-149287453	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs4972371	chr2:149287486-149287487	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs572925815	chr2:149287492-149287493	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs80345355	chr2:149287558-149287559	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs144554294	chr2:149287591-149287592	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs576457656	chr2:149287626-149287627	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs147844584	chr2:149287636-149287637	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs541672731	chr2:149287691-149287692	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs371708415	chr2:149287712-149287713	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs574481629	chr2:149287889-149287890	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs148415406	chr2:149287895-149287896	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs561551149	chr2:149287901-149287902	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs528663863	chr2:149287919-149287920	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs142488512	chr2:149287961-149287962	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs189039199	chr2:149287969-149287970	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs532594645	chr2:149287970-149287971	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs551004895	chr2:149288018-149288019	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs569111657	chr2:149288022-149288023	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs150958298	chr2:149288091-149288092	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs548361118	chr2:149288114-149288115	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs572159599	chr2:149288159-149288160	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs533715236	chr2:149288193-149288194	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs140762047	chr2:149288199-149288200	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs542790050	chr2:149288211-149288212	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	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
epilepsy	18472482	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	19904302	CNVD
Intellectual disability	19904302	CNVD
Microcephaly	19904302	CNVD
severe speech impairment	19904302	CNVD
Mental retardation	20152051	CNVD
2q23.1 microdeletion syndrome	18812405	CNVD
Mental retardation	19809484	CNVD
Autism	21981781	CNVD
Mental retardation	17847001	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149247600-149291000	Weak transcription	Spleen	Spleen
2	chr2:149267400-149288400	Weak transcription	Fetal Brain Female	brain
3	chr2:149267400-149288800	Weak transcription	Right Ventricle	heart
4	chr2:149270600-149288400	Weak transcription	Fetal Heart	heart
5	chr2:149272400-149288800	Weak transcription	Left Ventricle	heart
6	chr2:149272600-149287600	Weak transcription	Pancreas	Pancrea
7	chr2:149277200-149287000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:149280200-149287200	Enhancers	Thymus	Thymus
9	chr2:149281000-149288000	Enhancers	Fetal Thymus	thymus
10	chr2:149281400-149292200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:149281400-149296400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:149283000-149288800	Weak transcription	Right Atrium	heart
13	chr2:149283800-149287200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr2:149284000-149286800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr2:149284400-149290600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:149285000-149286800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr2:149285200-149286800	Enhancers	Dnd41	blood
18	chr2:149286000-149289000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:149286200-149287400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:149286200-149289800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:149286200-149295800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:149286400-149287800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:149286400-149288600	Enhancers	Primary T cells fromperipheralblood	blood
24	chr2:149286400-149288800	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr2:149286400-149289000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:149286400-149289000	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr2:149286400-149289600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr2:149286400-149290800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:149286600-149286800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr2:149286600-149287800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:149286600-149289200	Enhancers	Primary T cells from cord blood	blood
32	chr2:149286800-149288800	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr2:149286800-149288800	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr2:149286800-149289400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr2:149287200-149288400	Bivalent Enhancer	HepG2	liver
36	chr2:149287600-149289000	Enhancers	Pancreas	Pancrea
37	chr2:149287800-149291000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:149288000-149290400	Weak transcription	Fetal Thymus	thymus
39	chr2:149288400-149290200	Enhancers	Fetal Heart	heart
40	chr2:149288600-149289000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr2:149288800-149289000	Enhancers	Gastric	stomach
42	chr2:149288800-149289200	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr2:149288800-149289600	Enhancers	Right Atrium	heart
44	chr2:149288800-149290000	Enhancers	Left Ventricle	heart
45	chr2:149288800-149290000	Enhancers	Right Ventricle	heart
46	chr2:149288800-149290200	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr2:149288800-149296800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr2:149289000-149289200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr2:149289000-149289400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr2:149289000-149289800	Enhancers	Primary T cells fromperipheralblood	blood

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