Variant report

Variant	nsv508146
Chromosome Location	chr2:64476640-64487323
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:64368580..64371469-chr2:64483320..64485909,2	K562	blood:
2	chr2:64471845..64474737-chr2:64476534..64479111,2	MCF-7	breast:
3	chr2:64468295..64471597-chr2:64473646..64477829,4	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LGALSL-2	chr2:64479554-64479960	NONHSAT071103
2	lnc-PELI1-8	chr2:64478253-64478681	NONHSAT071095
3	lnc-LGALSL-2	chr2:64478935-64479072	ENSG00000225889
4	lnc-LGALSL-2	chr2:64478253-64478471	ENSG00000225889
5	lnc-LGALSL-7	chr2:64481866-64482002	NONHSAT071104
6	lnc-PELI1-8	chr2:64479554-64479991	NONHSAT071095
7	lnc-PELI1-8	chr2:64478782-64479117	NONHSAT071095
8	lnc-LGALSL-7	chr2:64483043-64483311	NONHSAT071104
9	lnc-LGALSL-2	chr2:64478253-64478489	ENSG00000225889

No data

Variant related genes	Relation type
ENSG00000225889	chromatin interactions
CEBPZ	miRNA target sites
FUBP3	miRNA target sites
PRDM1	miRNA target sites

Extended variants
information (count: 551 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147643962	chr2:64476643-64476644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529018154	chr2:64476663-64476664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547467413	chr2:64476671-64476672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565685710	chr2:64476674-64476675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187680396	chr2:64476685-64476686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368370753	chr2:64476725-64476726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571103683	chr2:64476753-64476754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538088625	chr2:64476808-64476809	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549976579	chr2:64476826-64476827	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200414946	chr2:64476828-64476829	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142121051	chr2:64476869-64476870	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2303497	chr2:64476899-64476900	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371865755	chr2:64476905-64476906	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553839365	chr2:64476908-64476909	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563003431	chr2:64476961-64476962	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72895072	chr2:64476964-64476965	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539801930	chr2:64477017-64477018	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531594382	chr2:64477067-64477068	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557805261	chr2:64477078-64477079	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs151166648	chr2:64477083-64477084	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140228868	chr2:64477113-64477114	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573838934	chr2:64477122-64477123	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192756106	chr2:64477147-64477148	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111377164	chr2:64477170-64477171	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370911368	chr2:64477221-64477222	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559485095	chr2:64477227-64477228	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557096932	chr2:64477237-64477238	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34902109	chr2:64477349-64477350	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs551341697	chr2:64477407-64477408	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563102416	chr2:64477444-64477445	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532035510	chr2:64477451-64477452	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550022807	chr2:64477493-64477494	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568356974	chr2:64477538-64477539	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1582792	chr2:64477543-64477544	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs547515184	chr2:64477560-64477561	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566152206	chr2:64477570-64477571	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs367594681	chr2:64477622-64477623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539515483	chr2:64477647-64477648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183499405	chr2:64477661-64477662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187777237	chr2:64477689-64477690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375967947	chr2:64477828-64477829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142366186	chr2:64477841-64477842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145139358	chr2:64477905-64477906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112096802	chr2:64477954-64477955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139016715	chr2:64477962-64477963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371588922	chr2:64477964-64477965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372938533	chr2:64478017-64478018	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs149402408	chr2:64478029-64478030	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs577682257	chr2:64478082-64478083	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs112948031	chr2:64478084-64478085	Enhancers Weak transcription Flanking Active TSS	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:257 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64460000-64476800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:64471600-64476800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:64472200-64486400	Weak transcription	Right Atrium	heart
4	chr2:64473400-64478000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:64474000-64477200	Enhancers	Fetal Lung	lung
6	chr2:64474600-64476800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:64475200-64476800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:64475200-64476800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:64475200-64477400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:64475200-64478000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:64475200-64478600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:64475400-64476800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:64475400-64485400	Weak transcription	Ovary	ovary
14	chr2:64476200-64476800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:64476200-64478400	Enhancers	H1 Cell Line	embryonic stem cell
16	chr2:64476200-64479000	Enhancers	Fetal Muscle Leg	muscle
17	chr2:64476400-64477200	Enhancers	Adipose Nuclei	Adipose
18	chr2:64476400-64477800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:64476600-64477000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr2:64476800-64477000	Enhancers	Lung	lung
21	chr2:64476800-64477000	Enhancers	K562	blood
22	chr2:64476800-64477600	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr2:64476800-64477600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:64476800-64478000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr2:64476800-64478200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr2:64476800-64478400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr2:64476800-64478400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:64476800-64478400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:64477000-64477600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr2:64477000-64489000	Weak transcription	Lung	lung
31	chr2:64477400-64478400	Enhancers	H9 Cell Line	embryonic stem cell
32	chr2:64477400-64478400	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr2:64477600-64477800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:64477600-64478200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr2:64477600-64478200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr2:64477600-64478400	Enhancers	Psoas Muscle	Psoas
37	chr2:64477600-64478800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:64477600-64478800	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr2:64477800-64478000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:64477800-64478200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr2:64478000-64478200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr2:64478000-64478400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:64478000-64478800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr2:64478000-64479000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr2:64478200-64478600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr2:64478200-64478600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr2:64478200-64478600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr2:64478200-64478800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr2:64478200-64482800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr2:64478400-64478600	Flanking Active TSS	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links