Variant report

Variant	esv2553798
Chromosome Location	chr2:64315959-64317339
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCLAF1	chr2:64317202-64317755	GM12878	blood:	n/a	n/a
2	CTCF	chr2:64316900-64317050	WERI-Rb-1	eye:	n/a	n/a
3	EBF1	chr2:64317322-64317347	GM12878	blood:	n/a	n/a
4	JUND	chr2:64316625-64316664	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAFK	chr2:64315841-64316051	HepG2	liver:	n/a	n/a
6	MAFK	chr2:64315840-64316034	HepG2	liver:	n/a	n/a
7	MTA3	chr2:64316735-64317989	GM12878	blood:	n/a	n/a
8	NFATC1	chr2:64316859-64317634	GM12878	blood:	n/a	n/a
9	NFIC	chr2:64317288-64317878	GM12878	blood:	n/a	n/a
10	POLR2A	chr2:64317291-64317743	GM12891	blood:	n/a	n/a
11	POLR2A	chr2:64316646-64318833	GM12878	blood:	n/a	n/a
12	POLR2A	chr2:64317239-64317628	GM12892	blood:	n/a	n/a
13	POLR2A	chr2:64317057-64317680	GM12878	blood:	n/a	n/a
14	POLR2A	chr2:64317311-64317445	HepG2	liver:	n/a	n/a
15	POLR2A	chr2:64316350-64320106	GM12891	blood:	n/a	n/a
16	POLR2A	chr2:64316760-64317783	GM12892	blood:	n/a	n/a
17	POLR2A	chr2:64316623-64317899	GM12878	blood:	n/a	n/a
18	POLR2A	chr2:64316623-64318167	GM12878	blood:	n/a	n/a
19	POLR2A	chr2:64316896-64317921	K562	blood:	n/a	n/a
20	POLR2A	chr2:64316874-64316998	GM12878	blood:	n/a	n/a
21	POLR2A	chr2:64317260-64317582	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr2:64316783-64317857	GM12891	blood:	n/a	n/a
23	POLR2A	chr2:64316963-64317795	GM12892	blood:	n/a	n/a
24	POLR2A	chr2:64316925-64317423	GM12878	blood:	n/a	n/a
25	POLR2A	chr2:64317339-64317788	Raji	blood:	n/a	n/a
26	POLR2A	chr2:64316850-64318062	GM12892	blood:	n/a	n/a
27	POLR2A	chr2:64316760-64317836	GM12891	blood:	n/a	n/a
28	POLR2A	chr2:64317312-64317627	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr2:64314368-64316074	GM12878	blood:	n/a	n/a
30	STAT5A	chr2:64317114-64317960	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64316021..64319950-chr2:64320900..64323334,4	K562	blood:
2	chr2:64315474..64318085-chr2:64320703..64322833,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UGP2-3	chr2:64316219-64316574	NONHSAT071086
2	lnc-UGP2-3	chr2:64316482-64318014	NONHSAT071087

No data

Variant related genes	Relation type
ENSG00000228079	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545492344	chr2:64315976-64315977	Weak transcription Strong transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs148417362	chr2:64316041-64316042	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs188907955	chr2:64316058-64316059	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs529730062	chr2:64316077-64316078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372869606	chr2:64316078-64316079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575952640	chr2:64316102-64316103	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556643197	chr2:64316122-64316123	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10183513	chr2:64316144-64316145	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs575314804	chr2:64316149-64316150	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539134351	chr2:64316151-64316152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530250324	chr2:64316167-64316168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542478912	chr2:64316237-64316238	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs372866096	chr2:64316271-64316272	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs191662863	chr2:64316328-64316329	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs375767240	chr2:64316361-64316362	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs527831815	chr2:64316367-64316368	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs548870922	chr2:64316396-64316397	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs552691161	chr2:64316445-64316446	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs183774461	chr2:64316499-64316500	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs531683424	chr2:64316506-64316507	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs527983248	chr2:64316557-64316558	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs572334036	chr2:64316611-64316612	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs199556887	chr2:64316613-64316614	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs200686006	chr2:64316614-64316615	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs549827812	chr2:64316620-64316621	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs397828911	chr2:64316625-64316626	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs201683870	chr2:64316626-64316627	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs372065224	chr2:64316654-64316655	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs79363446	chr2:64316665-64316666	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs329502	chr2:64316687-64316688	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs147554030	chr2:64316692-64316693	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs561129230	chr2:64316772-64316773	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs565529362	chr2:64316773-64316774	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs539158396	chr2:64316781-64316782	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs35320023	chr2:64316818-64316819	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs557385455	chr2:64316825-64316826	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs575972521	chr2:64316886-64316887	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs543373788	chr2:64316926-64316927	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs549982556	chr2:64316937-64316938	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs555055766	chr2:64316938-64316939	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs575107888	chr2:64316977-64316978	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs191855736	chr2:64317036-64317037	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs183982626	chr2:64317176-64317177	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs527844706	chr2:64317180-64317181	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs141952279	chr2:64317186-64317187	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs141985342	chr2:64317202-64317203	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs145798090	chr2:64317259-64317260	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs577751193	chr2:64317266-64317267	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs186673188	chr2:64317313-64317314	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs372743215	chr2:64317326-64317327	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64302000-64318200	Weak transcription	Fetal Intestine Large	intestine
2	chr2:64303400-64318400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:64303800-64318400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:64304200-64321600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:64305800-64318000	Weak transcription	Fetal Intestine Small	intestine
6	chr2:64307000-64318400	Weak transcription	Placenta	Placenta
7	chr2:64307600-64318400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:64309600-64317200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:64309600-64320800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:64311400-64321800	Weak transcription	Small Intestine	intestine
11	chr2:64311800-64316800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:64311800-64321200	Weak transcription	K562	blood
13	chr2:64311800-64321800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:64311800-64321800	Weak transcription	Brain Germinal Matrix	brain
15	chr2:64312000-64317200	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr2:64312200-64318400	Weak transcription	Liver	Liver
17	chr2:64312800-64321200	Weak transcription	Psoas Muscle	Psoas
18	chr2:64313200-64321200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:64313200-64321400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:64313200-64321600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:64313200-64321800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:64313200-64341800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:64313400-64318400	Weak transcription	Adipose Nuclei	Adipose
24	chr2:64313400-64321800	Weak transcription	Brain Angular Gyrus	brain
25	chr2:64313400-64321800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:64313600-64316600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:64313600-64317800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:64313600-64320600	Weak transcription	Fetal Lung	lung
29	chr2:64313600-64321800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:64313600-64323000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr2:64313800-64317000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr2:64313800-64321800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:64313800-64321800	Weak transcription	NH-A	brain
34	chr2:64314200-64318400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:64314200-64321800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:64314200-64321800	Weak transcription	Pancreas	Pancrea
37	chr2:64314400-64321200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:64314400-64325000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:64314600-64316400	Weak transcription	Primary B cells from peripheral blood	blood
40	chr2:64314600-64316800	Weak transcription	GM12878-XiMat	blood
41	chr2:64315000-64316800	Weak transcription	Fetal Thymus	thymus
42	chr2:64315000-64317000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr2:64315000-64321800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr2:64315200-64316800	Weak transcription	Primary T cells from cord blood	blood
45	chr2:64315200-64317200	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr2:64315200-64318400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:64315200-64321800	Weak transcription	Stomach Mucosa	stomach
48	chr2:64315400-64316000	Enhancers	HepG2	liver
49	chr2:64315400-64317200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:64315400-64317200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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