Variant report

Variant	nsv819228
Chromosome Location	chr2:63664455-63666590
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr2:63666115-63666206	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:63665223-63665345	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr2:63666122-63666218	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:63665072-63665122	U87	brain:	n/a
2	chr2:63665072-63665122	SAEC	small airway:	n/a
3	chr2:63665072-63665122	HL-60	blood:	n/a
4	chr2:63665072-63665122	PANC-1	pancreas:	n/a
5	chr2:63665072-63665122	HIPEpiC	eye:	n/a
6	chr2:63665072-63665122	RPTEC	kidney:	n/a
7	chr2:63665072-63665122	AG04450	lung:	fetal
8	chr2:63665072-63665122	HMEC	breast:	n/a
9	chr2:63665072-63665122	SK-N-SH	brain:	n/a
10	chr2:63665072-63665122	HRCEpiC	kidney:	n/a
11	chr2:63665072-63665122	ovcar-3	ovarian:	n/a
12	chr2:63665072-63665122	Hepatocyte	liver:	n/a
13	chr2:63665072-63665122	BE2_C	brain:	n/a
14	chr2:63665072-63665122	MCF-7	breast:	n/a
15	chr2:63665072-63665122	AG09309	skin:	n/a
16	chr2:63665072-63665122	HCT-116	colon:	n/a
17	chr2:63665072-63665122	K562	blood:	n/a
18	chr2:63665072-63665122	HEK293	kidney:	embryo
19	chr2:63665072-63665122	AG04449	skin:	fetal
20	chr2:63665072-63665122	T-47D	breast:	n/a
21	chr2:63665072-63665122	AoSMC	blood vessel:	n/a
22	chr2:63665072-63665122	PFSK-1	brain:	n/a
23	chr2:63665072-63665122	HAEpiC	amniotic membrane:	n/a
24	chr2:63665072-63665122	GM12878	blood:	n/a
25	chr2:63665072-63665122	GM19239	blood:	n/a
26	chr2:63665072-63665122	HepG2	liver:	n/a
27	chr2:63665072-63665122	GM12891	blood:	n/a
28	chr2:63665072-63665122	Caco-2	colon:	n/a
29	chr2:63665072-63665122	H1-hESC	embryonic stem cell:	embryo
30	chr2:63665072-63665122	HNPCEpiC	eye:	n/a
31	chr2:63665072-63665122	GM12892	blood:	n/a
32	chr2:63665072-63665122	NB4	blood:	n/a
33	chr2:63665072-63665122	SK-N-MC	brain:	n/a
34	chr2:63665072-63665122	IMR90	lung:	fetal
35	chr2:63665072-63665122	NT2-D1	testis:	n/a
36	chr2:63665072-63665122	HCM	heart:	n/a
37	chr2:63665072-63665122	MCF10A-Er-Src	breast:	n/a
38	chr2:63665072-63665122	HCPEpiC	choroid plexus:	n/a
39	chr2:63665072-63665122	HRE	kidney:	n/a
40	chr2:63665072-63665122	HPAEpiC	pulmonary alveolar:	n/a
41	chr2:63665072-63665122	HEEpiC	esophagus:	n/a
42	chr2:63665072-63665122	NHBE	bronchial:	n/a
43	chr2:63665072-63665122	Hela-S3	cervix:	n/a
44	chr2:63665072-63665122	GM06990	blood:	n/a
45	chr2:63665072-63665122	A549	lung:	n/a
46	chr2:63665072-63665122	HRPEpiC	eye:	n/a
47	chr2:63665072-63665122	BJ	skin:	n/a
48	chr2:63665072-63665122	NH-A	brain:	n/a
49	chr2:63665072-63665122	HUVEC	blood vessel:	n/a
50	chr2:63665072-63665122	AG10803	skin:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:63648880..63650710-chr2:63662533..63665016,2	K562	blood:
2	chr15:86367748..86369747-chr2:63664289..63665809,2	MCF-7	breast:
3	chr2:63662111..63664772-chr2:63666351..63669219,2	K562	blood:

No data

Variant related genes	Relation type
WDPCP	TF binding region
WDPCP	CpG island
ENSG00000143951	chromatin interactions
ENSG00000264406	chromatin interactions

Extended variants
information (count: 52 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147432340	chr2:63664493-63664494	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs202021534	chr2:63664505-63664506	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs369723036	chr2:63664512-63664513	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs565759881	chr2:63664524-63664525	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs373456348	chr2:63664538-63664539	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs532850194	chr2:63664555-63664556	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs267606692	chr2:63664564-63664565	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs552373952	chr2:63664712-63664713	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs376196939	chr2:63664716-63664717	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs371305145	chr2:63664723-63664724	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs373319024	chr2:63664738-63664739	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs570676374	chr2:63664754-63664755	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs573581919	chr2:63664768-63664769	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs538179419	chr2:63664808-63664809	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs556416407	chr2:63664828-63664829	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs11896820	chr2:63664829-63664830	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs139624009	chr2:63664878-63664879	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs556252326	chr2:63664885-63664886	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs553838783	chr2:63664943-63664944	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs145226788	chr2:63664946-63664947	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs200884279	chr2:63664979-63664980	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs370547796	chr2:63664991-63664992	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs374696334	chr2:63665038-63665039	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs370088255	chr2:63665054-63665055	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs74401821	chr2:63665078-63665079	Weak transcription Strong transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs545336093	chr2:63665119-63665120	Weak transcription Strong transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs576288510	chr2:63665176-63665177	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs186543293	chr2:63665185-63665186	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs559205244	chr2:63665212-63665213	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs572821837	chr2:63665215-63665216	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs34485099	chr2:63665236-63665237	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs528923477	chr2:63665269-63665270	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs541033302	chr2:63665285-63665286	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs189355630	chr2:63665324-63665325	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs181607336	chr2:63665478-63665479	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs551043391	chr2:63665518-63665519	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs147205604	chr2:63665535-63665536	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs139505745	chr2:63665593-63665594	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs529793066	chr2:63665597-63665598	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs149702451	chr2:63665607-63665608	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs568744368	chr2:63665630-63665631	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs116296702	chr2:63665632-63665633	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs563106593	chr2:63665680-63665681	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs373948556	chr2:63665759-63665760	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs565900876	chr2:63665800-63665801	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs532146461	chr2:63665960-63665961	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539975029	chr2:63666070-63666071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558262399	chr2:63666183-63666184	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs376857202	chr2:63666387-63666388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368218575	chr2:63666388-63666389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Endometrioid adenocarcinoma	16974079	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
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Follicular lymphoma	17699855	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
Primary mediastinal b-cell lymphoma	17728785	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63628200-63668200	Weak transcription	Fetal Kidney	kidney
2	chr2:63631800-63665600	Weak transcription	Primary B cells from cord blood	blood
3	chr2:63631800-63675800	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr2:63631800-63677200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:63631800-63681200	Weak transcription	Aorta	Aorta
6	chr2:63631800-63688000	Weak transcription	Right Ventricle	heart
7	chr2:63632000-63665400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:63634200-63665800	Weak transcription	Fetal Heart	heart
9	chr2:63643000-63673200	Weak transcription	Left Ventricle	heart
10	chr2:63652600-63666600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:63652600-63673800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:63653200-63673800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:63654000-63668000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:63654600-63670600	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:63654600-63678200	Weak transcription	Psoas Muscle	Psoas
16	chr2:63655000-63679000	Weak transcription	Primary T cells from cord blood	blood
17	chr2:63656200-63675600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:63657400-63675400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:63658600-63666800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:63658600-63669400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:63658800-63668000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:63658800-63674000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr2:63659200-63679200	Weak transcription	Brain Hippocampus Middle	brain
24	chr2:63659600-63679000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:63659800-63667400	Weak transcription	A549	lung
26	chr2:63660400-63667400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:63661800-63673400	Weak transcription	Fetal Brain Female	brain
28	chr2:63662000-63698000	Weak transcription	Ovary	ovary
29	chr2:63662200-63667800	Weak transcription	Fetal Brain Male	brain
30	chr2:63662200-63681400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:63662600-63665200	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr2:63662600-63665800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:63662800-63688000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:63663400-63667000	Strong transcription	Adipose Nuclei	Adipose
35	chr2:63663400-63670600	Weak transcription	Primary B cells from peripheral blood	blood
36	chr2:63664400-63667600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:63665600-63666400	Strong transcription	Primary B cells from cord blood	blood
38	chr2:63665800-63666000	Enhancers	Fetal Heart	heart
39	chr2:63665800-63666600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:63666000-63666800	Weak transcription	Fetal Heart	heart
41	chr2:63666400-63688000	Weak transcription	Primary B cells from cord blood	blood

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