Variant report

Variant	nsv873657
Chromosome Location	chr2:10662366-10682245
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10660893..10663493-chr2:10697519..10700150,2	K562	blood:
2	chr2:10587440..10589528-chr2:10671667..10675036,3	K562	blood:
3	chr2:10587070..10589528-chr2:10671667..10675036,4	K562	blood:
4	chr2:10659707..10661854-chr2:10668258..10670855,2	K562	blood:
5	chr2:10673867..10676091-chr2:10699484..10701243,2	K562	blood:
6	chr2:10579413..10581262-chr2:10676249..10678549,2	K562	blood:
7	chr2:10659273..10661362-chr2:10665519..10669758,4	K562	blood:
8	chr2:10662032..10664872-chr2:10664978..10666678,2	K562	blood:
9	chr2:10638581..10640912-chr2:10660415..10663385,2	MCF-7	breast:
10	chr2:10656282..10658609-chr2:10661566..10663626,2	K562	blood:
11	chr2:10677985..10680964-chr2:10684522..10686186,2	K562	blood:
12	chr2:10662032..10664872-chr2:10664978..10666678,2	K562	blood:
13	chr2:10651055..10653921-chr2:10663036..10664618,2	K562	blood:
14	chr2:10650088..10652035-chr2:10662005..10663540,2	MCF-7	breast:
15	chr2:10660141..10662446-chr2:10692139..10693932,2	MCF-7	breast:
16	chr2:10641809..10644723-chr2:10673184..10675074,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115758	chromatin interactions
ENSG00000257135	chromatin interactions

Extended variants
information (count: 940 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:940 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12466300	chr2:10662366-10662367	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536373567	chr2:10662429-10662430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192851844	chr2:10662497-10662498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566991667	chr2:10662546-10662547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534501138	chr2:10662564-10662565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs71439015	chr2:10662572-10662573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12466371	chr2:10662582-10662583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12477495	chr2:10662584-10662585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115150225	chr2:10662590-10662591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577623768	chr2:10662598-10662599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544988667	chr2:10662624-10662625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557020080	chr2:10662742-10662743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576104688	chr2:10662793-10662794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545160667	chr2:10662832-10662833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73180555	chr2:10662870-10662871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561127707	chr2:10662881-10662882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543108862	chr2:10662885-10662886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373066976	chr2:10662931-10662932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9751307	chr2:10662974-10662975	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs202033051	chr2:10663085-10663086	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs113521172	chr2:10663122-10663123	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs564802711	chr2:10663123-10663124	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs11892596	chr2:10663149-10663150	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs11887760	chr2:10663183-10663184	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs550538460	chr2:10663190-10663191	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs577114190	chr2:10663228-10663229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189405061	chr2:10663238-10663239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62128570	chr2:10663239-10663240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs11683200	chr2:10663267-10663268	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs530058613	chr2:10663355-10663356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534094794	chr2:10663389-10663390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552821920	chr2:10663404-10663405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571133770	chr2:10663405-10663406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192667215	chr2:10663439-10663440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556981252	chr2:10663503-10663504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144391595	chr2:10663504-10663505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536343508	chr2:10663530-10663531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34898571	chr2:10663555-10663556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12470348	chr2:10663567-10663568	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs146595173	chr2:10663597-10663598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546404457	chr2:10663603-10663604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373752767	chr2:10663604-10663605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564764020	chr2:10663614-10663615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576709751	chr2:10663662-10663663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544138016	chr2:10663697-10663698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184909237	chr2:10663751-10663752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529993531	chr2:10663801-10663802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114539610	chr2:10663802-10663803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560352416	chr2:10663842-10663843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73917003	chr2:10663843-10663844	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:63)

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
Neuroblastoma	18923524	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10658600-10662400	Weak transcription	Spleen	Spleen
2	chr2:10658600-10662800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:10660200-10663200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:10660600-10662400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:10660600-10662400	Enhancers	H1 Cell Line	embryonic stem cell
6	chr2:10661400-10662400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:10661400-10662400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:10661400-10662400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:10661600-10662400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:10662400-10665200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:10662400-10665600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:10662600-10662800	Enhancers	Lung	lung
13	chr2:10662800-10663000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:10663000-10663200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr2:10663000-10663200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:10663000-10672000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:10663200-10663800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:10663800-10664400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:10664400-10666400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:10665200-10665600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr2:10665600-10665800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:10665600-10665800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr2:10665600-10665800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr2:10666200-10666800	Enhancers	Brain Germinal Matrix	brain
25	chr2:10666200-10667000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:10666200-10667000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:10666200-10667000	Enhancers	HMEC	breast
28	chr2:10666400-10666800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr2:10666400-10666800	Enhancers	NHEK	skin
30	chr2:10666400-10674200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:10670800-10672400	Enhancers	K562	blood
32	chr2:10671000-10671200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:10671200-10671400	Enhancers	NH-A	brain
34	chr2:10671200-10674200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:10671400-10673000	Weak transcription	NH-A	brain
36	chr2:10672000-10672800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:10672000-10674400	Enhancers	Fetal Muscle Leg	muscle
38	chr2:10672400-10673400	Bivalent Enhancer	HepG2	liver
39	chr2:10672400-10675000	Enhancers	Fetal Muscle Trunk	muscle
40	chr2:10672400-10679800	Weak transcription	K562	blood
41	chr2:10672600-10673000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:10672800-10673000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:10672800-10673000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr2:10672800-10674600	Enhancers	HSMMtube	muscle
45	chr2:10672800-10674800	Enhancers	HSMM	muscle
46	chr2:10673000-10673200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:10673000-10674600	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr2:10673000-10675200	Enhancers	NH-A	brain
49	chr2:10673000-10675600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:10673000-10677200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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