Variant report

Variant	nsv9347
Chromosome Location	chr2:10367487-10369921
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10365290..10368319-chr2:10370625..10373445,3	MCF-7	breast:
2	chr2:10366036..10368819-chr2:10586040..10588858,2	K562	blood:
3	chr2:10367576..10370568-chr2:10435265..10436937,2	MCF-7	breast:
4	chr2:10360606..10364064-chr2:10366598..10369959,4	K562	blood:
5	chr2:10367671..10369522-chr2:10589318..10591313,2	K562	blood:
6	chr2:10343616..10346370-chr2:10368491..10370304,2	MCF-7	breast:
7	chr2:10333815..10336556-chr2:10366578..10368507,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206633	chromatin interactions
ENSG00000206898	chromatin interactions
ENSG00000115758	chromatin interactions
ENSG00000257135	chromatin interactions

Extended variants
information (count: 122 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565178104	chr2:10367522-10367523	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs189490250	chr2:10367525-10367526	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs550680727	chr2:10367594-10367595	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs560508054	chr2:10367614-10367615	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs148089395	chr2:10367722-10367723	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs2357469	chr2:10367741-10367742	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs548550000	chr2:10367779-10367780	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs370127914	chr2:10367781-10367782	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs141890620	chr2:10367798-10367799	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs552729606	chr2:10367837-10367838	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs78104953	chr2:10367869-10367870	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs374252407	chr2:10367891-10367892	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs386389515	chr2:10367907-10367908	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs35709927	chr2:10367908-10367909	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs181909569	chr2:10367921-10367922	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs1985757	chr2:10367936-10367937	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs557108156	chr2:10367947-10367948	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs575471662	chr2:10367962-10367963	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs542847602	chr2:10367964-10367965	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs560974648	chr2:10367973-10367974	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs2357470	chr2:10367977-10367978	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs36126405	chr2:10367980-10367981	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs373874057	chr2:10367981-10367982	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs540196206	chr2:10367982-10367983	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs565263168	chr2:10368033-10368034	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs370163306	chr2:10368037-10368038	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs201859269	chr2:10368038-10368039	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs199991269	chr2:10368042-10368043	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs6432076	chr2:10368044-10368045	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs1985634	chr2:10368048-10368049	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs530177445	chr2:10368049-10368050	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs6432077	chr2:10368097-10368098	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs566985808	chr2:10368130-10368131	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs146370500	chr2:10368139-10368140	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs372143676	chr2:10368176-10368177	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs566157486	chr2:10368177-10368178	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs372068542	chr2:10368183-10368184	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs571229397	chr2:10368196-10368197	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs543129234	chr2:10368211-10368212	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs190586761	chr2:10368233-10368234	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs6752801	chr2:10368275-10368276	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs1006866	chr2:10368321-10368322	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs545043123	chr2:10368323-10368324	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs536006136	chr2:10368344-10368345	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs181526048	chr2:10368377-10368378	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs372394379	chr2:10368397-10368398	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs575203487	chr2:10368414-10368415	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs572983919	chr2:10368427-10368428	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs186709289	chr2:10368479-10368480	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs558435546	chr2:10368496-10368497	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	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
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10350400-10375200	Weak transcription	Right Atrium	heart
2	chr2:10357800-10368400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:10360600-10367600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:10362000-10369600	Weak transcription	Right Ventricle	heart
5	chr2:10362800-10368600	Weak transcription	Left Ventricle	heart
6	chr2:10362800-10375000	Weak transcription	Brain Germinal Matrix	brain
7	chr2:10363800-10370400	Weak transcription	Spleen	Spleen
8	chr2:10364200-10369200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:10364600-10370000	Enhancers	Fetal Intestine Small	intestine
10	chr2:10364600-10371000	Enhancers	Fetal Intestine Large	intestine
11	chr2:10364800-10369200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr2:10365000-10369800	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr2:10365000-10370200	Enhancers	Duodenum Mucosa	Duodenum
14	chr2:10365400-10367800	Enhancers	Fetal Muscle Leg	muscle
15	chr2:10365400-10370800	Enhancers	Stomach Mucosa	stomach
16	chr2:10365600-10367800	Enhancers	Colonic Mucosa	Colon
17	chr2:10365600-10369800	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr2:10366000-10367800	Enhancers	Gastric	stomach
19	chr2:10366000-10370600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:10366000-10373400	Weak transcription	Fetal Kidney	kidney
21	chr2:10366400-10367600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:10366400-10367600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:10366600-10369000	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr2:10367000-10368800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:10367200-10367800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:10367400-10367600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:10367400-10367800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr2:10367400-10367800	Enhancers	Ovary	ovary
29	chr2:10367400-10367800	Enhancers	A549	lung
30	chr2:10367400-10367800	Flanking Bivalent TSS/Enh	HepG2	liver
31	chr2:10367600-10367800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:10367600-10367800	Enhancers	Liver	Liver
33	chr2:10367600-10367800	Enhancers	Small Intestine	intestine
34	chr2:10367600-10367800	Enhancers	K562	blood
35	chr2:10367600-10368400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:10367600-10369200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:10367600-10369400	Enhancers	Pancreas	Pancrea
38	chr2:10367800-10368400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:10367800-10368600	Bivalent Enhancer	HepG2	liver
40	chr2:10367800-10368800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:10367800-10368800	Weak transcription	Liver	Liver
42	chr2:10367800-10373400	Weak transcription	Gastric	stomach
43	chr2:10368000-10369400	Weak transcription	Small Intestine	intestine
44	chr2:10368400-10368600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:10368400-10369000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:10368600-10369000	Flanking Bivalent TSS/Enh	HepG2	liver
47	chr2:10368600-10370000	Enhancers	Left Ventricle	heart
48	chr2:10368800-10369000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr2:10368800-10369200	Enhancers	Liver	Liver
50	chr2:10369000-10369400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links