Variant report

Variant	nsv873658
Chromosome Location	chr2:10664481-10684391
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10651055..10653921-chr2:10663036..10664618,2	K562	blood:
2	chr2:10662032..10664872-chr2:10664978..10666678,2	K562	blood:
3	chr2:10587055..10588827-chr2:10683720..10686701,2	K562	blood:
4	chr2:10659273..10661362-chr2:10665519..10669758,4	K562	blood:
5	chr2:10673867..10676091-chr2:10699484..10701243,2	K562	blood:
6	chr2:10587070..10589528-chr2:10671667..10675036,4	K562	blood:
7	chr2:10587440..10589528-chr2:10671667..10675036,3	K562	blood:
8	chr2:10662032..10664872-chr2:10664978..10666678,2	K562	blood:
9	chr2:10677985..10680964-chr2:10684522..10686186,2	K562	blood:
10	chr2:10659707..10661854-chr2:10668258..10670855,2	K562	blood:
11	chr2:10641809..10644723-chr2:10673184..10675074,2	K562	blood:
12	chr2:10579413..10581262-chr2:10676249..10678549,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257135	chromatin interactions
ENSG00000115758	chromatin interactions

Extended variants
information (count: 941 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:941 , 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	rs2463460	chr2:10664481-10664482	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186837862	chr2:10664486-10664487	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531894451	chr2:10664538-10664539	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189671244	chr2:10664540-10664541	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371707896	chr2:10664545-10664546	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568631655	chr2:10664585-10664586	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529617842	chr2:10664588-10664589	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181235695	chr2:10664597-10664598	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566501214	chr2:10664620-10664621	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112581502	chr2:10664624-10664625	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs36051562	chr2:10664637-10664638	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570218952	chr2:10664664-10664665	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113906606	chr2:10664681-10664682	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537617678	chr2:10664757-10664758	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556347802	chr2:10664790-10664791	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572636741	chr2:10664812-10664813	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149027337	chr2:10664818-10664819	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542143858	chr2:10664825-10664826	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112472320	chr2:10664826-10664827	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189699639	chr2:10664868-10664869	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372640203	chr2:10664929-10664930	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182052447	chr2:10664941-10664942	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536932205	chr2:10665021-10665022	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186282151	chr2:10665029-10665030	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143051756	chr2:10665076-10665077	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544008755	chr2:10665087-10665088	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115543590	chr2:10665090-10665091	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541521579	chr2:10665149-10665150	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548113393	chr2:10665172-10665173	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78970621	chr2:10665193-10665194	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567054156	chr2:10665197-10665198	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558772706	chr2:10665231-10665232	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138716695	chr2:10665264-10665265	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575422744	chr2:10665266-10665267	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142729202	chr2:10665272-10665273	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375616507	chr2:10665298-10665299	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544582585	chr2:10665327-10665328	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369675717	chr2:10665349-10665350	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549696414	chr2:10665358-10665359	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568289000	chr2:10665359-10665360	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535384238	chr2:10665365-10665366	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553985965	chr2:10665388-10665389	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs74412161	chr2:10665407-10665408	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114256183	chr2:10665409-10665410	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558211238	chr2:10665423-10665424	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538396455	chr2:10665450-10665451	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558629278	chr2:10665451-10665452	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146957674	chr2:10665481-10665482	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562136916	chr2:10665494-10665495	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190746565	chr2:10665496-10665497	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	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:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10662400-10665200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:10662400-10665600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:10663000-10672000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:10664400-10666400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:10665200-10665600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr2:10665600-10665800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:10665600-10665800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
8	chr2:10665600-10665800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr2:10666200-10666800	Enhancers	Brain Germinal Matrix	brain
10	chr2:10666200-10667000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:10666200-10667000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:10666200-10667000	Enhancers	HMEC	breast
13	chr2:10666400-10666800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:10666400-10666800	Enhancers	NHEK	skin
15	chr2:10666400-10674200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:10670800-10672400	Enhancers	K562	blood
17	chr2:10671000-10671200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:10671200-10671400	Enhancers	NH-A	brain
19	chr2:10671200-10674200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:10671400-10673000	Weak transcription	NH-A	brain
21	chr2:10672000-10672800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:10672000-10674400	Enhancers	Fetal Muscle Leg	muscle
23	chr2:10672400-10673400	Bivalent Enhancer	HepG2	liver
24	chr2:10672400-10675000	Enhancers	Fetal Muscle Trunk	muscle
25	chr2:10672400-10679800	Weak transcription	K562	blood
26	chr2:10672600-10673000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:10672800-10673000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:10672800-10673000	Enhancers	Placenta Amnion	Placenta Amnion
29	chr2:10672800-10674600	Enhancers	HSMMtube	muscle
30	chr2:10672800-10674800	Enhancers	HSMM	muscle
31	chr2:10673000-10673200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:10673000-10674600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr2:10673000-10675200	Enhancers	NH-A	brain
34	chr2:10673000-10675600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:10673000-10677200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:10673800-10674000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:10673800-10674000	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr2:10674000-10674600	Enhancers	Hela-S3	cervix
39	chr2:10674000-10674800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:10674200-10674600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:10674200-10675000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:10674200-10675200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:10674200-10676000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:10674400-10674600	Bivalent Enhancer	Fetal Muscle Leg	muscle
45	chr2:10674600-10675600	Enhancers	Placenta Amnion	Placenta Amnion
46	chr2:10674600-10678600	Weak transcription	Hela-S3	cervix
47	chr2:10674800-10675000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:10674800-10675000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:10674800-10675200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:10674800-10677000	Weak transcription	HSMM	muscle

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