Variant report

Variant	nsv963240
Chromosome Location	chr2:64573534-64575614
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:64575443-64575987	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr2:64575413-64576137	H1-neurons	neurons:	n/a	n/a
3	RAD21	chr2:64574635-64574798	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64570999..64573990-chr2:64667729..64669508,2	K562	blood:
2	chr2:64564561..64566931-chr2:64570797..64573696,2	K562	blood:

Variant related genes	Relation type
ENSG00000236148	TF binding region
ENSG00000238201	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35125530	chr2:64573555-64573556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139320276	chr2:64573583-64573584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4459720	chr2:64573642-64573643	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs192615159	chr2:64573681-64573682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564032014	chr2:64573723-64573724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7600180	chr2:64573732-64573733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549526842	chr2:64573798-64573799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561640509	chr2:64573835-64573836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144316681	chr2:64573851-64573852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548885197	chr2:64573855-64573856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201010284	chr2:64573917-64573918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571375967	chr2:64573918-64573919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567109366	chr2:64573942-64573943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534325469	chr2:64573977-64573978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553832465	chr2:64573998-64573999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117680100	chr2:64574051-64574052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111247707	chr2:64574083-64574084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13008221	chr2:64574128-64574129	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs78428545	chr2:64574136-64574137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538299358	chr2:64574183-64574184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1365477	chr2:64574188-64574189	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs574468291	chr2:64574189-64574190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112219931	chr2:64574224-64574225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183358206	chr2:64574256-64574257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572259401	chr2:64574271-64574272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187568910	chr2:64574294-64574295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192112272	chr2:64574343-64574344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184327569	chr2:64574355-64574356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564275330	chr2:64574439-64574440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576079646	chr2:64574486-64574487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576467214	chr2:64574515-64574516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556940857	chr2:64574606-64574607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370901713	chr2:64574619-64574620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543522161	chr2:64574655-64574656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561701589	chr2:64574669-64574670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2059631	chr2:64574682-64574683	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs545650604	chr2:64574689-64574690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560770206	chr2:64574707-64574708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527945319	chr2:64574710-64574711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61739224	chr2:64574717-64574718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141226871	chr2:64574722-64574723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192886558	chr2:64574734-64574735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549845712	chr2:64574735-64574736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61743098	chr2:64574749-64574750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535461628	chr2:64574750-64574751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553712387	chr2:64574751-64574752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184475213	chr2:64574788-64574789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145510863	chr2:64574817-64574818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189555767	chr2:64574844-64574845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576172038	chr2:64574860-64574861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64568400-64575800	Weak transcription	Fetal Muscle Leg	muscle
2	chr2:64572600-64581800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:64573200-64573800	Enhancers	A549	lung
4	chr2:64573800-64576000	Weak transcription	A549	lung
5	chr2:64575000-64576400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:64575200-64576600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:64575400-64575600	Flanking Active TSS	NHDF-Ad	bronchial
8	chr2:64575400-64576000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:64575400-64576000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:64575400-64576200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:64575400-64576200	Enhancers	NH-A	brain
12	chr2:64575400-64576400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:64575400-64576600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:64575400-64576800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:64575400-64576800	Enhancers	NHLF	lung
16	chr2:64575600-64576200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:64575600-64576400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:64575600-64576600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:64575600-64576600	Enhancers	NHDF-Ad	bronchial
20	chr2:64575600-64576600	Enhancers	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links