Variant report

Variant	nsv581755
Chromosome Location	chr2:47468331-47552277
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:210)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:210 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr2:47464125..47466702-chr2:47468051..47470081,2	K562	blood:
2	chr2:47450507..47453723-chr2:47476153..47479003,3	MCF-7	breast:
3	chr2:47490578..47492989-chr2:47496160..47499559,3	K562	blood:
4	chr2:47400608..47404497-chr2:47531040..47533741,5	K562	blood:
5	chr2:47529427..47534518-chr2:47538025..47540772,4	MCF-7	breast:
6	chr2:47403230..47405677-chr2:47521258..47523732,2	MCF-7	breast:
7	chr2:47213989..47214766-chr2:47546474..47547462,2	MCF-7	breast:
8	chr2:47394132..47407926-chr2:47492481..47507054,74	K562	blood:
9	chr2:47500714..47503481-chr2:47536098..47539031,2	K562	blood:
10	chr2:47488474..47490725-chr2:47494644..47497319,2	MCF-7	breast:
11	chr2:47497455..47500389-chr2:47501805..47505272,3	MCF-7	breast:
12	chr2:47401702..47403771-chr2:47518885..47520517,2	MCF-7	breast:
13	chr2:47471172..47473317-chr2:47476209..47479649,3	MCF-7	breast:
14	chr2:47500386..47503208-chr2:47514636..47517593,2	K562	blood:
15	chr2:47385656..47388232-chr2:47538182..47540860,2	MCF-7	breast:
16	chr2:47154064..47155957-chr2:47551668..47554389,2	K562	blood:
17	chr2:47400704..47405102-chr2:47526831..47530549,9	K562	blood:
18	chr2:47269944..47272346-chr2:47548303..47550473,2	MCF-7	breast:
19	chr2:47409469..47411339-chr2:47477135..47479722,2	MCF-7	breast:
20	chr2:47406999..47409780-chr2:47499066..47501901,2	MCF-7	breast:
21	chr2:47484967..47487278-chr2:47489027..47491218,2	MCF-7	breast:
22	chr2:47476493..47480049-chr2:47496667..47500826,6	MCF-7	breast:
23	chr2:47411666..47413985-chr2:47498950..47500848,2	MCF-7	breast:
24	chr2:47402265..47404474-chr2:47473092..47477391,4	MCF-7	breast:
25	chr2:47403492..47404421-chr2:47499307..47500012,2	MCF-7	breast:
26	chr2:47403102..47404509-chr2:47499208..47500165,9	MCF-7	breast:
27	chr2:47494273..47494773-chr22:50714380..50715023,2	MCF-7	breast:
28	chr2:47397241..47405105-chr2:47487950..47492011,10	K562	blood:
29	chr2:47213933..47214713-chr2:47539627..47540579,3	MCF-7	breast:
30	chr2:47213912..47214423-chr2:47498901..47499882,2	MCF-7	breast:
31	chr2:47402102..47404982-chr2:47488025..47489693,2	MCF-7	breast:
32	chr2:47482267..47483917-chr2:47489154..47492083,2	MCF-7	breast:
33	chr2:47212036..47214586-chr2:47495464..47497856,2	MCF-7	breast:
34	chr2:47468738..47470603-chr2:47472163..47473920,2	K562	blood:
35	chr2:47476493..47480049-chr2:47496667..47500826,6	MCF-7	breast:
36	chr2:47426556..47429113-chr2:47489647..47493366,3	MCF-7	breast:
37	chr2:47395267..47408439-chr2:47533772..47553038,55	MCF-7	breast:
38	chr2:47412361..47428396-chr2:47486545..47501626,43	MCF-7	breast:
39	chr2:47392818..47394891-chr2:47546000..47548920,2	MCF-7	breast:
40	chr2:47500386..47503208-chr2:47514636..47517593,2	K562	blood:
41	chr2:47473511..47478428-chr2:47483950..47488018,4	MCF-7	breast:
42	chr2:47527126..47529865-chr2:47532972..47535062,2	K562	blood:
43	chr2:47478076..47480290-chr2:47491113..47492985,2	K562	blood:
44	chr2:47442644..47445166-chr2:47495179..47497867,2	MCF-7	breast:
45	chr2:47426189..47428111-chr2:47478013..47479523,2	MCF-7	breast:
46	chr2:47485633..47487371-chr2:47493003..47495306,2	MCF-7	breast:
47	chr2:47400556..47404810-chr2:47503337..47507243,8	K562	blood:
48	chr2:47402721..47404828-chr2:47466923..47470052,3	MCF-7	breast:
49	chr2:47442306..47443952-chr2:47489350..47492039,2	MCF-7	breast:
50	chr2:47393853..47395632-chr2:47496969..47499614,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CALM2-9	chr2:47533482-47533950	NONHSAT070562
2	lnc-CALM2-7	chr2:47514413-47514533	NONHSAT070559
3	lnc-CALM2-2	chr2:47550560-47550634	ENSG00000234690
4	lnc-CALM2-7	chr2:47514119-47514207	NONHSAT070559
5	lnc-CALM2-2	chr2:47549983-47560165	NONHSAT070563
6	lnc-CALM2-2	chr2:47550560-47550634	ENSG00000234690
7	lnc-CALM2-8	chr2:47532963-47533189	NONHSAT070561

No data

Variant related genes	Relation type
ENSG00000136877	chromatin interactions
ENSG00000236824	chromatin interactions
ENSG00000095002	chromatin interactions
ENSG00000119888	chromatin interactions
ENSG00000239605	chromatin interactions
ENSG00000226087	chromatin interactions
ENSG00000143933	chromatin interactions
DNAJC3	miRNA target sites
ARHGEF12	miRNA target sites

Extended variants
information (count: 4051 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:4051 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386645771	chr2:47468331-47468332	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs188540637	chr2:47468332-47468333	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs573764352	chr2:47468348-47468349	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs568452787	chr2:47468355-47468356	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs544360146	chr2:47468357-47468358	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs576247126	chr2:47468361-47468362	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs535646700	chr2:47468377-47468378	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs569675053	chr2:47468455-47468456	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs11894063	chr2:47468456-47468457	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs6736321	chr2:47468473-47468474	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs560489855	chr2:47468526-47468527	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs539523283	chr2:47468583-47468584	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs192732368	chr2:47468605-47468606	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs537040299	chr2:47468627-47468628	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs144758270	chr2:47468661-47468662	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs550324838	chr2:47468677-47468678	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs571879112	chr2:47468725-47468726	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs538935714	chr2:47468770-47468771	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs137900113	chr2:47468789-47468790	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs113299467	chr2:47468790-47468791	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs78182041	chr2:47468821-47468822	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs6721583	chr2:47468866-47468867	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs558554774	chr2:47468871-47468872	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs573659644	chr2:47468874-47468875	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs541114753	chr2:47468900-47468901	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs73926783	chr2:47468936-47468937	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs555697635	chr2:47468937-47468938	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs556315126	chr2:47468949-47468950	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs577907218	chr2:47468950-47468951	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs7598661	chr2:47468955-47468956	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs529771076	chr2:47468964-47468965	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs72879081	chr2:47468997-47468998	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs543017296	chr2:47469015-47469016	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs376993587	chr2:47469026-47469027	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs113150087	chr2:47469061-47469062	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs550146985	chr2:47469104-47469105	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs562638468	chr2:47469107-47469108	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs565470609	chr2:47469113-47469114	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs77771516	chr2:47469114-47469115	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs547693627	chr2:47469138-47469139	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs376422899	chr2:47469142-47469143	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs184813459	chr2:47469176-47469177	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs371127415	chr2:47469206-47469207	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs73926784	chr2:47469226-47469227	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs111749462	chr2:47469245-47469246	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs576909488	chr2:47469246-47469247	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs537944157	chr2:47469248-47469249	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs386645772	chr2:47469275-47469276	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs199723766	chr2:47469276-47469277	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs538804882	chr2:47469281-47469282	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Myelofibrosis	22110671	CNVD
Hypotonia	17579669	CNVD
Hypotonia-Cystinuria syndrome	16385448	CNVD
Glioblastoma multiforme	17002787	CNVD
Cystinuria	17625506	CNVD
Breast cancer	16272173	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	22355333	CNVD
early-passage human iPS cells	21368824	CNVD
Colorectal cancer	17569143	CNVD
Hereditary non-polyposis colorectal cancer	16941473	CNVD
Lynch syndrome	16541406	CNVD
Non-syndromic sensorineural hearing loss	19173287	CNVD
Hereditary non-polyposis colorectal cancer	17228328	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Lynch syndrome	20937110	CNVD
Breast cancer	20616022	CNVD
Colorectal cancer	18708397	CNVD
Endometrial cancer	18708397	CNVD
Lynch syndrome	18708397	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1975 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47464200-47468800	Weak transcription	Right Atrium	heart
2	chr2:47466200-47468800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:47466400-47468800	Weak transcription	Ovary	ovary
4	chr2:47466400-47470800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:47466800-47469200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:47466800-47470800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:47467000-47468800	Weak transcription	K562	blood
8	chr2:47467000-47469600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:47467000-47470800	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:47467000-47471000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr2:47467000-47476400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:47467200-47468800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:47467200-47469000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:47467200-47470600	Weak transcription	Fetal Stomach	stomach
15	chr2:47467200-47471000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:47467200-47476200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:47467400-47468600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:47467400-47469000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:47467400-47471000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:47467400-47476000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:47467400-47476200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:47468600-47469800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:47468800-47469000	Enhancers	Ovary	ovary
24	chr2:47468800-47469000	Enhancers	Right Atrium	heart
25	chr2:47468800-47469400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr2:47468800-47469800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:47468800-47469800	Enhancers	K562	blood
28	chr2:47469000-47469200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:47469000-47469400	Weak transcription	Ovary	ovary
30	chr2:47469200-47469600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:47469200-47469800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:47469400-47469800	Enhancers	Fetal Heart	heart
33	chr2:47469400-47469800	Enhancers	Ovary	ovary
34	chr2:47469600-47469800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:47469600-47469800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:47469600-47470000	Enhancers	Gastric	stomach
37	chr2:47469800-47470200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:47469800-47470800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:47469800-47470800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:47469800-47471000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:47469800-47471000	Weak transcription	Fetal Heart	heart
42	chr2:47469800-47471000	Weak transcription	K562	blood
43	chr2:47470200-47471800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:47470600-47472200	Enhancers	Fetal Stomach	stomach
45	chr2:47470800-47471000	Enhancers	Colon Smooth Muscle	Colon
46	chr2:47470800-47471000	Enhancers	Stomach Smooth Muscle	stomach
47	chr2:47470800-47471000	Bivalent/Poised TSS	HepG2	liver
48	chr2:47470800-47471400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr2:47470800-47471600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:47470800-47471600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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