Variant report

Variant	nsv517701
Chromosome Location	chr2:9933956-9954768
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:110)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:110 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr2:9907890..9909492-chr2:9937494..9939085,2	MCF-7	breast:
2	chr2:9954114..9958283-chr2:10172857..10175994,4	K562	blood:
3	chr2:9948773..9949474-chr2:9970552..9971153,2	MCF-7	breast:
4	chr2:9939487..9940276-chr2:9953657..9954192,2	MCF-7	breast:
5	chr2:9954066..9954585-chr2:9970189..9971149,2	MCF-7	breast:
6	chr2:9939487..9940276-chr2:9953657..9954192,2	MCF-7	breast:
7	chr2:9954254..9954818-chr8:59963704..59964295,2	MCF-7	breast:
8	chr2:9932066..9933964-chr2:9935822..9938951,3	MCF-7	breast:
9	chr2:9932066..9933964-chr2:9935822..9938951,3	MCF-7	breast:
10	chr2:9937501..9941480-chr2:10089757..10093591,7	MCF-7	breast:
11	chr2:9941486..9944395-chr2:9967791..9970762,3	MCF-7	breast:
12	chr2:9947583..9953611-chr2:9980461..9984922,8	MCF-7	breast:
13	chr2:9613783..9615988-chr2:9938287..9940295,2	MCF-7	breast:
14	chr2:9944322..9946964-chr2:10159875..10162614,2	MCF-7	breast:
15	chr2:9948978..9951882-chr2:10166549..10169090,2	MCF-7	breast:
16	chr2:9919839..9921691-chr2:9937191..9939012,2	MCF-7	breast:
17	chr2:9694708..9697029-chr2:9954430..9956483,2	MCF-7	breast:
18	chr2:9935006..9936856-chr2:10191878..10194283,2	K562	blood:
19	chr2:9948192..9950621-chr2:10182726..10184931,3	MCF-7	breast:
20	chr2:9940189..9942989-chr2:10049056..10050927,2	MCF-7	breast:
21	chr2:9939247..9940441-chr2:10212805..10213455,3	K562	blood:
22	chr2:9930227..9931961-chr2:9935791..9937908,2	K562	blood:
23	chr2:9952585..9955462-chr2:9959911..9962016,2	MCF-7	breast:
24	chr2:9939096..9940025-chr2:10176180..10176753,2	MCF-7	breast:
25	chr2:9910603..9912581-chr2:9936937..9939514,2	MCF-7	breast:
26	chr2:9940167..9943661-chr2:10053697..10057580,3	MCF-7	breast:
27	chr2:9953684..9954577-chr2:10179926..10180431,2	MCF-7	breast:
28	chr2:9939670..9940467-chr2:9953617..9954536,3	K562	blood:
29	chr2:9946709..9949837-chr2:10090072..10092095,4	MCF-7	breast:
30	chr2:9938587..9941859-chr2:10090007..10092310,3	MCF-7	breast:
31	chr2:9941455..9943586-chr2:10099873..10102242,2	MCF-7	breast:
32	chr2:9916806..9919291-chr2:9935461..9938460,2	MCF-7	breast:
33	chr2:9908911..9912003-chr2:9940246..9943048,3	MCF-7	breast:
34	chr2:9945976..9947561-chr2:9982451..9984203,2	MCF-7	breast:
35	chr2:9939520..9941287-chr2:10187476..10189009,2	MCF-7	breast:
36	chr2:9939649..9941498-chr2:10185709..10187949,2	K562	blood:
37	chr2:9945406..9947876-chr2:10182838..10184446,2	MCF-7	breast:
38	chr2:9945375..9947276-chr2:9949205..9951851,2	K562	blood:
39	chr2:9940003..9944697-chr2:9981835..9986230,10	MCF-7	breast:
40	chr2:9939472..9940257-chr2:10124055..10124606,2	MCF-7	breast:
41	chr2:9949012..9952005-chr2:9952060..9955056,3	K562	blood:
42	chr2:9933200..9936556-chr2:9937201..9939703,3	K562	blood:
43	chr2:9948070..9949733-chr2:10038866..10041132,2	K562	blood:
44	chr2:9920939..9923701-chr2:9941195..9943026,2	MCF-7	breast:
45	chr2:9948913..9951655-chr2:9969307..9971290,2	MCF-7	breast:
46	chr2:9939482..9940260-chr2:10197198..10197764,2	K562	blood:
47	chr2:9938188..9943513-chr2:9981101..9985006,11	MCF-7	breast:
48	chr2:9945041..9950358-chr2:10256783..10262735,6	K562	blood:
49	chr2:9910212..9911110-chr2:9939462..9940413,3	MCF-7	breast:
50	chr2:9952816..9955217-chr2:10179305..10181124,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TAF1B-3	chr2:9934435-9934688	expReg_chr2_232_+

No data

Variant related genes	Relation type
ENSG00000260476	chromatin interactions
ENSG00000151694	chromatin interactions
ENSG00000054967	chromatin interactions
ENSG00000115758	chromatin interactions
ENSG00000260077	chromatin interactions
ENSG00000115750	chromatin interactions
ENSG00000134317	chromatin interactions
ENSG00000271855	chromatin interactions
ENSG00000257135	chromatin interactions
ENSG00000243491	chromatin interactions
ENSG00000172059	chromatin interactions
ENSG00000134330	chromatin interactions
ENSG00000171848	chromatin interactions
ENSG00000272524	chromatin interactions

Extended variants
information (count: 938 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:938 , 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	rs4669463	chr2:9933956-9933957	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530053953	chr2:9933961-9933962	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs187022002	chr2:9933998-9933999	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs563523973	chr2:9934032-9934033	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs73916107	chr2:9934033-9934034	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs146488792	chr2:9934066-9934067	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs565786547	chr2:9934091-9934092	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs528051324	chr2:9934163-9934164	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs369176294	chr2:9934176-9934177	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs539285034	chr2:9934198-9934199	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs554733986	chr2:9934223-9934224	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs869971	chr2:9934228-9934229	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs567853413	chr2:9934234-9934235	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs2357268	chr2:9934244-9934245	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs556441946	chr2:9934276-9934277	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs13430440	chr2:9934307-9934308	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs13417330	chr2:9934318-9934319	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs558754147	chr2:9934324-9934325	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs139947064	chr2:9934327-9934328	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs386643044	chr2:9934339-9934340	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs562878104	chr2:9934340-9934341	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs869970	chr2:9934341-9934342	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs543696336	chr2:9934362-9934363	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs563589416	chr2:9934384-9934385	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs577081605	chr2:9934387-9934388	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs546004152	chr2:9934413-9934414	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs143528985	chr2:9934447-9934448	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
28	rs145702719	chr2:9934480-9934481	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
29	rs547873611	chr2:9934542-9934543	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
30	rs4669464	chr2:9934548-9934549	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs530433551	chr2:9934569-9934570	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
32	rs550027323	chr2:9934585-9934586	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
33	rs570036687	chr2:9934592-9934593	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
34	rs560795099	chr2:9934609-9934610	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
35	rs148937516	chr2:9934641-9934642	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
36	rs552773819	chr2:9934669-9934670	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
37	rs117979232	chr2:9934679-9934680	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
38	rs190651397	chr2:9934710-9934711	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs529880613	chr2:9934724-9934725	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs554771479	chr2:9934790-9934791	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs1877948	chr2:9934800-9934801	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs6757321	chr2:9934859-9934860	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs60675686	chr2:9934877-9934878	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs6757444	chr2:9934944-9934945	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs6728058	chr2:9934956-9934957	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs371551029	chr2:9934962-9934963	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs6718193	chr2:9935007-9935008	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs541867803	chr2:9935018-9935019	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs386643045	chr2:9935021-9935022	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs185572077	chr2:9935022-9935023	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	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
Neuroblastoma	18923524	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:804 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9931400-9935600	Weak transcription	Fetal Intestine Small	intestine
2	chr2:9932000-9934200	Enhancers	Fetal Muscle Leg	muscle
3	chr2:9932000-9934200	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr2:9932000-9934200	Enhancers	Spleen	Spleen
5	chr2:9932000-9935600	Enhancers	Fetal Muscle Trunk	muscle
6	chr2:9932200-9934200	Enhancers	Lung	lung
7	chr2:9932400-9934800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:9932600-9934200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr2:9932600-9934200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr2:9932600-9934400	Enhancers	Primary B cells from peripheral blood	blood
11	chr2:9932600-9938400	Weak transcription	Adipose Nuclei	Adipose
12	chr2:9932800-9934000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:9932800-9934200	Enhancers	Primary B cells from cord blood	blood
14	chr2:9932800-9934400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:9932800-9934400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr2:9933000-9939200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:9933000-9939400	Weak transcription	Right Ventricle	heart
18	chr2:9933200-9934000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:9933200-9953800	Weak transcription	Fetal Heart	heart
20	chr2:9933400-9934000	Enhancers	Right Atrium	heart
21	chr2:9933400-9934200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:9933400-9934600	ZNF genes & repeats	GM12878-XiMat	blood
23	chr2:9933600-9934000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr2:9933600-9934400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:9933600-9935600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:9933600-9938400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr2:9933800-9934000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr2:9934000-9934200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:9934000-9934200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr2:9934000-9934200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:9934000-9936600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:9934000-9938000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr2:9934000-9938800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:9934000-9939000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:9934000-9939600	Weak transcription	Right Atrium	heart
36	chr2:9934200-9935200	Weak transcription	Fetal Muscle Leg	muscle
37	chr2:9934200-9935400	Bivalent Enhancer	HepG2	liver
38	chr2:9934200-9936400	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr2:9934200-9936600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr2:9934200-9936600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:9934200-9938400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr2:9934200-9938600	Weak transcription	Primary B cells from cord blood	blood
43	chr2:9934200-9938800	Weak transcription	Lung	lung
44	chr2:9934200-9938800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:9934200-9939000	Weak transcription	Spleen	Spleen
46	chr2:9934200-9941200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:9934200-9941600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr2:9934400-9934600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:9934400-9936400	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr2:9934400-9938400	Weak transcription	Primary B cells from peripheral blood	blood

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