Variant report

Variant	nsv873655
Chromosome Location	chr2:10656284-10688969
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10636415..10638376-chr2:10688711..10690452,2	K562	blood:
2	chr2:10586849..10588529-chr2:10658757..10660570,2	K562	blood:
3	chr2:10650088..10652035-chr2:10662005..10663540,2	MCF-7	breast:
4	chr2:10677985..10680964-chr2:10684522..10686186,2	K562	blood:
5	chr2:10656282..10658609-chr2:10661566..10663626,2	K562	blood:
6	chr2:10587055..10588827-chr2:10683720..10686701,2	K562	blood:
7	chr2:10660141..10662446-chr2:10692139..10693932,2	MCF-7	breast:
8	chr2:10662032..10664872-chr2:10664978..10666678,2	K562	blood:
9	chr2:10677985..10680964-chr2:10684522..10686186,2	K562	blood:
10	chr2:10584220..10586892-chr2:10686951..10688711,2	K562	blood:
11	chr2:10659707..10661854-chr2:10668258..10670855,2	K562	blood:
12	chr2:10586791..10590396-chr2:10688660..10691536,3	K562	blood:
13	chr2:10688125..10690392-chr2:10697109..10699588,2	K562	blood:
14	chr2:10579413..10581262-chr2:10676249..10678549,2	K562	blood:
15	chr2:10659273..10661362-chr2:10665519..10669758,4	K562	blood:
16	chr2:10659273..10661362-chr2:10665519..10669758,4	K562	blood:
17	chr2:10660893..10663493-chr2:10697519..10700150,2	K562	blood:
18	chr2:10662032..10664872-chr2:10664978..10666678,2	K562	blood:
19	chr2:10651055..10653921-chr2:10663036..10664618,2	K562	blood:
20	chr2:10641809..10644723-chr2:10673184..10675074,2	K562	blood:
21	chr2:10654305..10656431-chr2:10657961..10660518,3	K562	blood:
22	chr2:10638581..10640912-chr2:10660415..10663385,2	MCF-7	breast:
23	chr2:10654305..10656431-chr2:10657961..10660518,3	K562	blood:
24	chr2:10587440..10589528-chr2:10671667..10675036,3	K562	blood:
25	chr2:10673867..10676091-chr2:10699484..10701243,2	K562	blood:
26	chr2:10587070..10589528-chr2:10671667..10675036,4	K562	blood:
27	chr2:10659707..10661854-chr2:10668258..10670855,2	K562	blood:
28	chr2:10588254..10590396-chr2:10688188..10690335,2	K562	blood:
29	chr2:10656282..10658609-chr2:10661566..10663626,2	K562	blood:

No data

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

Extended variants
information (count: 1494 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1494 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10185605	chr2:10656284-10656285	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571548205	chr2:10656317-10656318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35996189	chr2:10656348-10656349	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs79074261	chr2:10656349-10656350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542849199	chr2:10656375-10656376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536377051	chr2:10656442-10656443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554729727	chr2:10656523-10656524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187313219	chr2:10656559-10656560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540570127	chr2:10656569-10656570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112843239	chr2:10656601-10656602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577475269	chr2:10656606-10656607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149175271	chr2:10656612-10656613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563292713	chr2:10656635-10656636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143293665	chr2:10656636-10656637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577672891	chr2:10656663-10656664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191842491	chr2:10656676-10656677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549132026	chr2:10656677-10656678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148338157	chr2:10656678-10656679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556533522	chr2:10656683-10656684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140674376	chr2:10656715-10656716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145867219	chr2:10656716-10656717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368257374	chr2:10656723-10656724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571484641	chr2:10656727-10656728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538579044	chr2:10656731-10656732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111658846	chr2:10656743-10656744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141509454	chr2:10656766-10656767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536340273	chr2:10656767-10656768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13031931	chr2:10656819-10656820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs376775320	chr2:10656820-10656821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534365693	chr2:10656834-10656835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558898900	chr2:10656839-10656840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577436063	chr2:10656840-10656841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34806627	chr2:10656858-10656859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544604951	chr2:10656920-10656921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556979055	chr2:10656947-10656948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575351067	chr2:10656973-10656974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56057521	chr2:10656985-10656986	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs183975825	chr2:10657018-10657019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13013488	chr2:10657025-10657026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs189658528	chr2:10657044-10657045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564961314	chr2:10657045-10657046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542887756	chr2:10657106-10657107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571474774	chr2:10657117-10657118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550503688	chr2:10657118-10657119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568909282	chr2:10657123-10657124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530801791	chr2:10657164-10657165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs180887856	chr2:10657166-10657167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574699942	chr2:10657213-10657214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144735070	chr2:10657215-10657216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184292738	chr2:10657255-10657256	Weak transcription	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:296 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10645600-10658200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:10657200-10658200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:10657600-10658000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:10657800-10658200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:10657800-10658200	Enhancers	Fetal Muscle Trunk	muscle
6	chr2:10657800-10658200	ZNF genes & repeats	Fetal Muscle Leg	muscle
7	chr2:10658000-10658600	ZNF genes & repeats	Spleen	Spleen
8	chr2:10658200-10658400	Enhancers	Fetal Muscle Leg	muscle
9	chr2:10658200-10658600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:10658200-10658600	Active TSS	Fetal Kidney	kidney
11	chr2:10658200-10658600	Enhancers	Pancreas	Pancrea
12	chr2:10658200-10658800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:10658200-10658800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
14	chr2:10658200-10658800	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:10658200-10658800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:10658400-10658600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:10658400-10658800	Enhancers	Gastric	stomach
18	chr2:10658400-10659200	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:10658600-10658800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:10658600-10662400	Weak transcription	Spleen	Spleen
21	chr2:10658600-10662800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:10658800-10660200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:10658800-10661200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:10658800-10661400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:10659200-10659600	Enhancers	Fetal Muscle Leg	muscle
26	chr2:10659600-10661400	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:10660200-10663200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:10660600-10660800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:10660600-10661000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr2:10660600-10662400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr2:10660600-10662400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr2:10660800-10661400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr2:10660800-10661400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:10661400-10661800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr2:10661400-10661800	Enhancers	Fetal Muscle Leg	muscle
36	chr2:10661400-10662000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr2:10661400-10662400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:10661400-10662400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:10661400-10662400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:10661600-10662400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:10661800-10662200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr2:10662400-10665200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr2:10662400-10665600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr2:10662600-10662800	Enhancers	Lung	lung
45	chr2:10662800-10663000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:10663000-10663200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr2:10663000-10663200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:10663000-10672000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:10663200-10663800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:10663800-10664400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links