Variant report

Variant	nsv873622
Chromosome Location	chr2:9948404-9971366
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:78)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:78 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:9957012..9961532-chr2:9962183..9964607,4	MCF-7	breast:
2	chr2:9948773..9949474-chr2:9970552..9971153,2	MCF-7	breast:
3	chr2:9947664..9950412-chr2:10090108..10093730,4	MCF-7	breast:
4	chr2:9948978..9951882-chr2:10166549..10169090,2	MCF-7	breast:
5	chr2:9951629..9954793-chr2:10090886..10093950,3	MCF-7	breast:
6	chr2:9954494..9957108-chr2:10173352..10175994,2	K562	blood:
7	chr2:9952585..9955462-chr2:9959911..9962016,2	MCF-7	breast:
8	chr2:9953533..9955150-chr2:10188521..10190837,2	K562	blood:
9	chr2:9969831..9974999-chr2:9980864..9985156,9	MCF-7	breast:
10	chr2:9954066..9954585-chr2:9970189..9971149,2	MCF-7	breast:
11	chr2:9952816..9955217-chr2:10179305..10181124,2	K562	blood:
12	chr2:9947583..9953611-chr2:9980461..9984922,8	MCF-7	breast:
13	chr2:9953452..9957551-chr2:10260663..10263596,3	K562	blood:
14	chr2:9948773..9949474-chr2:9970552..9971153,2	MCF-7	breast:
15	chr2:9953287..9954158-chr2:10212428..10212955,2	K562	blood:
16	chr2:9952585..9955462-chr2:9959911..9962016,2	MCF-7	breast:
17	chr2:9964138..9966578-chr2:9982711..9984277,2	K562	blood:
18	chr2:9949012..9952005-chr2:9952060..9955056,3	K562	blood:
19	chr2:9939277..9941879-chr2:9968461..9972329,3	K562	blood:
20	chr2:9945041..9950358-chr2:10256783..10262735,6	K562	blood:
21	chr2:9954551..9956379-chr2:9958340..9960055,2	K562	blood:
22	chr2:9953957..9955549-chr2:9981308..9984882,3	MCF-7	breast:
23	chr2:9952171..9953849-chr2:9962646..9965376,2	MCF-7	breast:
24	chr2:9937133..9939802-chr2:9958329..9960666,2	MCF-7	breast:
25	chr2:9965219..9967843-chr2:9969435..9971362,2	K562	blood:
26	chr2:9951073..9955556-chr2:10089913..10091836,5	MCF-7	breast:
27	chr2:9953684..9954577-chr2:10179926..10180431,2	MCF-7	breast:
28	chr2:9953495..9955824-chr2:9964200..9966123,2	K562	blood:
29	chr2:9694708..9697029-chr2:9954430..9956483,2	MCF-7	breast:
30	chr2:9945375..9947276-chr2:9949205..9951851,2	K562	blood:
31	chr2:9965202..9967094-chr2:9982317..9985206,3	MCF-7	breast:
32	chr2:9952171..9953849-chr2:9962646..9965376,2	MCF-7	breast:
33	chr2:9949069..9951498-chr2:10025282..10028550,3	MCF-7	breast:
34	chr2:9949625..9951614-chr2:9969038..9971229,2	MCF-7	breast:
35	chr2:9948913..9951655-chr2:9969307..9971290,2	MCF-7	breast:
36	chr2:9939775..9940459-chr2:9953750..9954369,2	MCF-7	breast:
37	chr2:9954879..9956876-chr2:9957733..9960340,3	K562	blood:
38	chr2:9970023..9972600-chr2:9978871..9981245,2	K562	blood:
39	chr2:9952588..9955831-chr2:9967859..9972229,5	MCF-7	breast:
40	chr2:9940885..9945263-chr2:9946727..9949411,4	K562	blood:
41	chr2:9953510..9955032-chr2:9983493..9985198,2	MCF-7	breast:
42	chr2:9950272..9953415-chr2:9982302..9983925,3	MCF-7	breast:
43	chr2:9959578..9960574-chr5:133706757..133707404,2	Hela-S3	cervix:
44	chr2:9958265..9960358-chr2:9982422..9984915,2	MCF-7	breast:
45	chr2:9954066..9954585-chr2:9970189..9971149,2	MCF-7	breast:
46	chr2:9949625..9951614-chr2:9969038..9971229,2	MCF-7	breast:
47	chr2:9955031..9957285-chr2:10091673..10093774,2	K562	blood:
48	chr2:9941486..9944395-chr2:9967791..9970762,3	MCF-7	breast:
49	chr2:9951674..9954142-chr2:10158863..10161812,2	MCF-7	breast:
50	chr2:9948192..9950621-chr2:10182726..10184931,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000134317	chromatin interactions
ENSG00000260476	chromatin interactions
ENSG00000172059	chromatin interactions
ENSG00000272524	chromatin interactions
ENSG00000171848	chromatin interactions
ENSG00000119048	chromatin interactions
ENSG00000115750	chromatin interactions
ENSG00000260077	chromatin interactions
ENSG00000151694	chromatin interactions
ENSG00000271855	chromatin interactions

Extended variants
information (count: 942 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:942 , 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	rs6734693	chr2:9948404-9948405	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs77006175	chr2:9948424-9948425	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs564180246	chr2:9948444-9948445	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs577597718	chr2:9948472-9948473	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs16867170	chr2:9948475-9948476	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs559984148	chr2:9948483-9948484	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs529091938	chr2:9948489-9948490	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs549118792	chr2:9948513-9948514	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs562444645	chr2:9948551-9948552	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs367852173	chr2:9948576-9948577	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs75755007	chr2:9948620-9948621	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs114640946	chr2:9948622-9948623	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs16867172	chr2:9948650-9948651	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs542388897	chr2:9948661-9948662	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs547333603	chr2:9948707-9948708	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs567114813	chr2:9948727-9948728	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs535674957	chr2:9948730-9948731	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs16867173	chr2:9948737-9948738	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs575739523	chr2:9948751-9948752	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs182124478	chr2:9948800-9948801	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs557806691	chr2:9948824-9948825	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs577636791	chr2:9948840-9948841	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs540198098	chr2:9948873-9948874	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs560195786	chr2:9948884-9948885	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs573829570	chr2:9948896-9948897	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs149845252	chr2:9948914-9948915	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs112636123	chr2:9948965-9948966	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs113445471	chr2:9948973-9948974	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs571724919	chr2:9948976-9948977	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs553136074	chr2:9948979-9948980	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs551524486	chr2:9948980-9948981	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs377183913	chr2:9948984-9948985	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs71389291	chr2:9948988-9948989	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs564942059	chr2:9948998-9948999	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs527293775	chr2:9948999-9949000	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs547372319	chr2:9949002-9949003	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs114832463	chr2:9949028-9949029	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs16867174	chr2:9949031-9949032	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs185232565	chr2:9949037-9949038	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs569461323	chr2:9949051-9949052	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs78829448	chr2:9949091-9949092	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs190133867	chr2:9949101-9949102	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs368817044	chr2:9949114-9949115	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs575761381	chr2:9949127-9949128	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs533932219	chr2:9949162-9949163	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs554182539	chr2:9949163-9949164	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs79289289	chr2:9949179-9949180	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs546824848	chr2:9949180-9949181	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs566072186	chr2:9949190-9949191	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs144567491	chr2:9949223-9949224	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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

Chromatin state (count:481 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9933200-9953800	Weak transcription	Fetal Heart	heart
2	chr2:9940400-9953600	Weak transcription	Right Atrium	heart
3	chr2:9940600-9949400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:9940600-9949800	Weak transcription	Lung	lung
5	chr2:9941800-9951800	Weak transcription	Psoas Muscle	Psoas
6	chr2:9942800-9948600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:9943200-9949200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:9943400-9949400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:9943600-9949000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:9944000-9948600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:9944000-9948600	Weak transcription	HMEC	breast
12	chr2:9944000-9949000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:9944000-9949400	Weak transcription	Colonic Mucosa	Colon
14	chr2:9944000-9949400	Weak transcription	Fetal Intestine Large	intestine
15	chr2:9945400-9950200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:9945600-9949400	Weak transcription	HSMMtube	muscle
17	chr2:9945800-9949600	Weak transcription	HSMM	muscle
18	chr2:9946000-9950200	Enhancers	Esophagus	oesophagus
19	chr2:9946000-9953600	Weak transcription	Osteobl	bone
20	chr2:9946200-9949600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:9946600-9949000	Weak transcription	Gastric	stomach
22	chr2:9946600-9953400	Weak transcription	Right Ventricle	heart
23	chr2:9947000-9948800	Weak transcription	Pancreas	Pancrea
24	chr2:9947600-9949800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:9947600-9950000	Enhancers	Placenta	Placenta
26	chr2:9948000-9949800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:9948000-9952000	Weak transcription	Spleen	Spleen
28	chr2:9948400-9949800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:9948400-9950200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:9948400-9950200	Enhancers	Stomach Mucosa	stomach
31	chr2:9948400-9953200	Enhancers	NHEK	skin
32	chr2:9948600-9948800	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr2:9948600-9950000	Enhancers	HMEC	breast
34	chr2:9948600-9950400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:9948800-9949200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr2:9948800-9950000	Enhancers	Pancreas	Pancrea
37	chr2:9949000-9950200	Enhancers	Duodenum Mucosa	Duodenum
38	chr2:9949000-9950200	Enhancers	Gastric	stomach
39	chr2:9949000-9950200	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr2:9949200-9949800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:9949200-9950000	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr2:9949200-9950200	Enhancers	Fetal Intestine Small	intestine
43	chr2:9949200-9950200	Enhancers	Fetal Thymus	thymus
44	chr2:9949400-9949800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:9949400-9950000	Enhancers	Fetal Intestine Large	intestine
46	chr2:9949400-9950000	Enhancers	Placenta Amnion	Placenta Amnion
47	chr2:9949400-9950000	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr2:9949400-9950200	Enhancers	Colonic Mucosa	Colon
49	chr2:9949400-9950200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr2:9949400-9950200	Enhancers	Skeletal Muscle Male	skeletal muscle

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