Variant report

Variant	nsv961896
Chromosome Location	chr2:149352746-149356995
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:149351093..149352826-chr2:149354280..149355842,2	MCF-7	breast:
2	chr2:149354442..149357102-chr2:149358398..149361183,2	K562	blood:
3	chr2:149349422..149353491-chr2:149401534..149405104,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135999	chromatin interactions
ENSG00000232238	chromatin interactions

Extended variants
information (count: 171 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:171 , 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	rs552013915	chr2:149352748-149352749	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs560317378	chr2:149352760-149352761	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs377259873	chr2:149352782-149352783	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs538884421	chr2:149352790-149352791	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs557127850	chr2:149352793-149352794	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs527952910	chr2:149352826-149352827	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs569059452	chr2:149352844-149352845	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs536554654	chr2:149352845-149352846	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs369723666	chr2:149352850-149352851	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs80105257	chr2:149352857-149352858	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs181926664	chr2:149352866-149352867	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs113998093	chr2:149352877-149352878	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs187370750	chr2:149352923-149352924	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs142251077	chr2:149352937-149352938	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs532837700	chr2:149352949-149352950	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs574644578	chr2:149352987-149352988	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs542166841	chr2:149353003-149353004	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs191745641	chr2:149353092-149353093	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs527321433	chr2:149353122-149353123	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs561423517	chr2:149353199-149353200	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs552139661	chr2:149353303-149353304	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs77707145	chr2:149353304-149353305	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs531306218	chr2:149353319-149353320	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs114113044	chr2:149353349-149353350	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs569120756	chr2:149353376-149353377	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs182962298	chr2:149353382-149353383	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs548632826	chr2:149353477-149353478	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs567141297	chr2:149353485-149353486	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs183025408	chr2:149353560-149353561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185787814	chr2:149353598-149353599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374110856	chr2:149353601-149353602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558908902	chr2:149353610-149353611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577263575	chr2:149353613-149353614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146334384	chr2:149353619-149353620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556660863	chr2:149353625-149353626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73965561	chr2:149353629-149353630	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs190111907	chr2:149353651-149353652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560227650	chr2:149353701-149353702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572299955	chr2:149353702-149353703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545730903	chr2:149353748-149353749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139593102	chr2:149353769-149353770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs74874726	chr2:149353790-149353791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs115874951	chr2:149353849-149353850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143395236	chr2:149353861-149353862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530267123	chr2:149353883-149353884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565352180	chr2:149353941-149353942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116254535	chr2:149353943-149353944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570984948	chr2:149353966-149353967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534512422	chr2:149353979-149353980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552554145	chr2:149353985-149353986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149350600-149352800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:149351800-149352800	Enhancers	HMEC	breast
3	chr2:149352000-149357000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:149352400-149352800	Enhancers	Fetal Thymus	thymus
5	chr2:149352400-149353000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:149352600-149352800	Enhancers	Placenta	Placenta
7	chr2:149352600-149353200	Enhancers	NHEK	skin
8	chr2:149352600-149353400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:149352800-149365800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:149353000-149353800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr2:149353400-149353800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:149353800-149356600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:149356200-149356800	Enhancers	Primary B cells from peripheral blood	blood
14	chr2:149356600-149357000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr2:149356600-149357600	Weak transcription	Right Atrium	heart
16	chr2:149356800-149357200	Enhancers	Hela-S3	cervix

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