Variant report

Variant	nsv873660
Chromosome Location	chr2:10665979-10688969
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	chr2:10659707..10661854-chr2:10668258..10670855,2	K562	blood:
2	chr2:10584220..10586892-chr2:10686951..10688711,2	K562	blood:
3	chr2:10688125..10690392-chr2:10697109..10699588,2	K562	blood:
4	chr2:10641809..10644723-chr2:10673184..10675074,2	K562	blood:
5	chr2:10662032..10664872-chr2:10664978..10666678,2	K562	blood:
6	chr2:10587440..10589528-chr2:10671667..10675036,3	K562	blood:
7	chr2:10586791..10590396-chr2:10688660..10691536,3	K562	blood:
8	chr2:10579413..10581262-chr2:10676249..10678549,2	K562	blood:
9	chr2:10677985..10680964-chr2:10684522..10686186,2	K562	blood:
10	chr2:10587055..10588827-chr2:10683720..10686701,2	K562	blood:
11	chr2:10636415..10638376-chr2:10688711..10690452,2	K562	blood:
12	chr2:10673867..10676091-chr2:10699484..10701243,2	K562	blood:
13	chr2:10588254..10590396-chr2:10688188..10690335,2	K562	blood:
14	chr2:10677985..10680964-chr2:10684522..10686186,2	K562	blood:
15	chr2:10659273..10661362-chr2:10665519..10669758,4	K562	blood:
16	chr2:10587070..10589528-chr2:10671667..10675036,4	K562	blood:

No data

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

Extended variants
information (count: 1083 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1083 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16856345	chr2:10665979-10665980	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376316462	chr2:10665986-10665987	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114563376	chr2:10666001-10666002	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563738232	chr2:10666002-10666003	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146315189	chr2:10666044-10666045	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567514211	chr2:10666056-10666057	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549520751	chr2:10666130-10666131	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188564978	chr2:10666164-10666165	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368290222	chr2:10666188-10666189	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116595399	chr2:10666189-10666190	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565920885	chr2:10666192-10666193	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116030592	chr2:10666234-10666235	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139527381	chr2:10666235-10666236	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569973161	chr2:10666236-10666237	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140998832	chr2:10666274-10666275	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536137289	chr2:10666283-10666284	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369169118	chr2:10666290-10666291	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567729534	chr2:10666300-10666301	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192777814	chr2:10666322-10666323	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183242325	chr2:10666362-10666363	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7592855	chr2:10666442-10666443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187782678	chr2:10666452-10666453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs13005655	chr2:10666469-10666470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191451296	chr2:10666479-10666480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112770607	chr2:10666520-10666521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183643313	chr2:10666521-10666522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528971964	chr2:10666530-10666531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560133076	chr2:10666542-10666543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541174029	chr2:10666543-10666544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115664439	chr2:10666560-10666561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533116732	chr2:10666570-10666571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551614414	chr2:10666576-10666577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114177973	chr2:10666577-10666578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530740771	chr2:10666585-10666586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144243846	chr2:10666587-10666588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146098388	chr2:10666613-10666614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112294252	chr2:10666614-10666615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373993284	chr2:10666624-10666625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538401003	chr2:10666639-10666640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377098188	chr2:10666641-10666642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538814117	chr2:10666662-10666663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527513183	chr2:10666663-10666664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73180558	chr2:10666668-10666669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113022520	chr2:10666669-10666670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555338569	chr2:10666714-10666715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573509744	chr2:10666722-10666723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541034872	chr2:10666731-10666732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530993512	chr2:10666739-10666740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575105746	chr2:10666740-10666741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115583157	chr2:10666749-10666750	Weak transcription 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:243 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10663000-10672000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:10664400-10666400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:10666200-10666800	Enhancers	Brain Germinal Matrix	brain
4	chr2:10666200-10667000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:10666200-10667000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:10666200-10667000	Enhancers	HMEC	breast
7	chr2:10666400-10666800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr2:10666400-10666800	Enhancers	NHEK	skin
9	chr2:10666400-10674200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:10670800-10672400	Enhancers	K562	blood
11	chr2:10671000-10671200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:10671200-10671400	Enhancers	NH-A	brain
13	chr2:10671200-10674200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:10671400-10673000	Weak transcription	NH-A	brain
15	chr2:10672000-10672800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:10672000-10674400	Enhancers	Fetal Muscle Leg	muscle
17	chr2:10672400-10673400	Bivalent Enhancer	HepG2	liver
18	chr2:10672400-10675000	Enhancers	Fetal Muscle Trunk	muscle
19	chr2:10672400-10679800	Weak transcription	K562	blood
20	chr2:10672600-10673000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:10672800-10673000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:10672800-10673000	Enhancers	Placenta Amnion	Placenta Amnion
23	chr2:10672800-10674600	Enhancers	HSMMtube	muscle
24	chr2:10672800-10674800	Enhancers	HSMM	muscle
25	chr2:10673000-10673200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:10673000-10674600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr2:10673000-10675200	Enhancers	NH-A	brain
28	chr2:10673000-10675600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:10673000-10677200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:10673800-10674000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:10673800-10674000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr2:10674000-10674600	Enhancers	Hela-S3	cervix
33	chr2:10674000-10674800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:10674200-10674600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:10674200-10675000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:10674200-10675200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:10674200-10676000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:10674400-10674600	Bivalent Enhancer	Fetal Muscle Leg	muscle
39	chr2:10674600-10675600	Enhancers	Placenta Amnion	Placenta Amnion
40	chr2:10674600-10678600	Weak transcription	Hela-S3	cervix
41	chr2:10674800-10675000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:10674800-10675000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:10674800-10675200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:10674800-10677000	Weak transcription	HSMM	muscle
45	chr2:10675000-10675200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:10675000-10675800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr2:10675000-10676400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:10675200-10675400	Bivalent Enhancer	HepG2	liver
49	chr2:10675200-10675800	Weak transcription	Spleen	Spleen
50	chr2:10675200-10682000	Weak transcription	NH-A	brain

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