Variant report

Variant	nsv528645
Chromosome Location	chr2:9946213-9975557
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:92)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:92 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:9944322..9946964-chr2:10159875..10162614,2	MCF-7	breast:
2	chr2:9954341..9956671-chr2:9971127..9973681,2	K562	blood:
3	chr2:9965219..9967843-chr2:9969435..9971362,2	K562	blood:
4	chr2:9953287..9954158-chr2:10212428..10212955,2	K562	blood:
5	chr2:9971442..9974071-chr2:9977767..9979870,2	MCF-7	breast:
6	chr2:9948773..9949474-chr2:9970552..9971153,2	MCF-7	breast:
7	chr2:9953957..9955549-chr2:9981308..9984882,3	MCF-7	breast:
8	chr2:9953722..9954621-chr2:10198383..10198907,2	K562	blood:
9	chr2:9954254..9954818-chr8:59963704..59964295,2	MCF-7	breast:
10	chr2:9959578..9960574-chr5:133706757..133707404,2	Hela-S3	cervix:
11	chr2:9970023..9972600-chr2:9978871..9981245,2	K562	blood:
12	chr2:9957012..9961532-chr2:9962183..9964607,4	MCF-7	breast:
13	chr2:9939277..9941879-chr2:9968461..9972329,3	K562	blood:
14	chr2:9952171..9953849-chr2:9962646..9965376,2	MCF-7	breast:
15	chr2:9953518..9955551-chr2:9982187..9983983,2	K562	blood:
16	chr2:9952588..9955831-chr2:9967859..9972229,5	MCF-7	breast:
17	chr2:9974928..9977095-chr2:10090981..10093622,2	MCF-7	breast:
18	chr2:9953684..9954577-chr2:10179926..10180431,2	MCF-7	breast:
19	chr2:9952588..9955831-chr2:9967859..9972229,5	MCF-7	breast:
20	chr2:9953775..9955121-chr2:10188515..10189751,8	K562	blood:
21	chr2:9939487..9940276-chr2:9953657..9954192,2	MCF-7	breast:
22	chr2:9954551..9956379-chr2:9958340..9960055,2	K562	blood:
23	chr2:9954551..9956379-chr2:9958340..9960055,2	K562	blood:
24	chr2:9947583..9953611-chr2:9980461..9984922,8	MCF-7	breast:
25	chr2:9948773..9949474-chr2:9970552..9971153,2	MCF-7	breast:
26	chr2:9948978..9951882-chr2:10166549..10169090,2	MCF-7	breast:
27	chr2:9947664..9950412-chr2:10090108..10093730,4	MCF-7	breast:
28	chr2:9951674..9954142-chr2:10158863..10161812,2	MCF-7	breast:
29	chr2:9954066..9954585-chr2:9970189..9971149,2	MCF-7	breast:
30	chr2:9972444..9974015-chr2:9987549..9989213,2	MCF-7	breast:
31	chr2:9945041..9950358-chr2:10256783..10262735,6	K562	blood:
32	chr2:9953495..9955824-chr2:9964200..9966123,2	K562	blood:
33	chr2:9967455..9969831-chr2:10090554..10093541,2	K562	blood:
34	chr2:9949069..9951498-chr2:10025282..10028550,3	MCF-7	breast:
35	chr2:9964138..9966578-chr2:9982711..9984277,2	K562	blood:
36	chr2:9939670..9940467-chr2:9953617..9954536,3	K562	blood:
37	chr2:9951629..9954793-chr2:10090886..10093950,3	MCF-7	breast:
38	chr2:9953452..9957551-chr2:10260663..10263596,3	K562	blood:
39	chr2:9945778..9947307-chr2:9981778..9983371,2	K562	blood:
40	chr2:9945976..9947561-chr2:9982451..9984203,2	MCF-7	breast:
41	chr2:9694708..9697029-chr2:9954430..9956483,2	MCF-7	breast:
42	chr2:9958265..9960358-chr2:9982422..9984915,2	MCF-7	breast:
43	chr2:9949012..9952005-chr2:9952060..9955056,3	K562	blood:
44	chr2:9971545..9974311-chr2:9982955..9984707,2	K562	blood:
45	chr2:9970684..9971435-chr2:9983705..9984702,2	MCF-7	breast:
46	chr2:9950272..9953415-chr2:9982302..9983925,3	MCF-7	breast:
47	chr2:9953531..9954610-chr2:10188559..10189446,3	MCF-7	breast:
48	chr2:9971098..9974311-chr2:9982835..9984808,3	K562	blood:
49	chr2:9941486..9944395-chr2:9967791..9970762,3	MCF-7	breast:
50	chr2:9955031..9957285-chr2:10091673..10093774,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000206633	chromatin interactions
ENSG00000260077	chromatin interactions
ENSG00000119048	chromatin interactions
ENSG00000260476	chromatin interactions
ENSG00000134317	chromatin interactions
ENSG00000271855	chromatin interactions
ENSG00000172059	chromatin interactions
ENSG00000151694	chromatin interactions
ENSG00000171848	chromatin interactions
ENSG00000115750	chromatin interactions
ENSG00000272524	chromatin interactions
ENSG00000115758	chromatin interactions

Extended variants
information (count: 1188 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1188 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10929616	chr2:9946213-9946214	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs112446517	chr2:9946235-9946236	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs561394960	chr2:9946259-9946260	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs34232301	chr2:9946281-9946282	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs550066777	chr2:9946364-9946365	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs563806756	chr2:9946396-9946397	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs62129868	chr2:9946403-9946404	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs552693161	chr2:9946474-9946475	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs566111850	chr2:9946488-9946489	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs534992104	chr2:9946513-9946514	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs548483502	chr2:9946533-9946534	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs568228137	chr2:9946537-9946538	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs537257525	chr2:9946607-9946608	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs556925311	chr2:9946749-9946750	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs576961331	chr2:9946766-9946767	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs539183686	chr2:9946775-9946776	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs112856451	chr2:9946812-9946813	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs572527596	chr2:9946826-9946827	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs541390299	chr2:9946828-9946829	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs561635502	chr2:9946850-9946851	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs563353626	chr2:9946880-9946881	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs79511743	chr2:9946914-9946915	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs544092135	chr2:9946934-9946935	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs192082977	chr2:9946983-9946984	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs144173244	chr2:9947005-9947006	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs140632187	chr2:9947057-9947058	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs554128791	chr2:9947077-9947078	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs78851151	chr2:9947085-9947086	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs79942761	chr2:9947093-9947094	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs568441487	chr2:9947112-9947113	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs536988091	chr2:9947140-9947141	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs550838099	chr2:9947147-9947148	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs574539026	chr2:9947179-9947180	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs183330399	chr2:9947183-9947184	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs188394529	chr2:9947198-9947199	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs552665548	chr2:9947223-9947224	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs192732382	chr2:9947229-9947230	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs535434504	chr2:9947233-9947234	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs555115309	chr2:9947269-9947270	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs116688941	chr2:9947297-9947298	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs183869113	chr2:9947302-9947303	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs557609165	chr2:9947331-9947332	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs577532865	chr2:9947367-9947368	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs76461231	chr2:9947370-9947371	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs559893374	chr2:9947383-9947384	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs375031422	chr2:9947423-9947424	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs144585885	chr2:9947453-9947454	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs35202353	chr2:9947468-9947469	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs542302382	chr2:9947475-9947476	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs76311031	chr2:9947534-9947535	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer	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:546 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

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	chr2:9941200-9948400	Weak transcription	Stomach Mucosa	stomach
6	chr2:9941800-9951800	Weak transcription	Psoas Muscle	Psoas
7	chr2:9942800-9948600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:9943200-9949200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:9943400-9949400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:9943600-9949000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr2:9944000-9948400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:9944000-9948400	Weak transcription	NHEK	skin
13	chr2:9944000-9948600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:9944000-9948600	Weak transcription	HMEC	breast
15	chr2:9944000-9949000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:9944000-9949400	Weak transcription	Colonic Mucosa	Colon
17	chr2:9944000-9949400	Weak transcription	Fetal Intestine Large	intestine
18	chr2:9945000-9946600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:9945200-9946600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:9945200-9946800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:9945200-9947400	Enhancers	Fetal Lung	lung
22	chr2:9945400-9946400	Enhancers	Fetal Stomach	stomach
23	chr2:9945400-9946800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:9945400-9950200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:9945600-9947200	Enhancers	Placenta	Placenta
26	chr2:9945600-9949400	Weak transcription	HSMMtube	muscle
27	chr2:9945800-9946400	Enhancers	Stomach Smooth Muscle	stomach
28	chr2:9945800-9947000	Enhancers	Pancreas	Pancrea
29	chr2:9945800-9949600	Weak transcription	HSMM	muscle
30	chr2:9946000-9946400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:9946000-9946600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr2:9946000-9946600	Enhancers	Gastric	stomach
33	chr2:9946000-9946600	Enhancers	Right Ventricle	heart
34	chr2:9946000-9946800	Enhancers	Fetal Muscle Leg	muscle
35	chr2:9946000-9950200	Enhancers	Esophagus	oesophagus
36	chr2:9946000-9953600	Weak transcription	Osteobl	bone
37	chr2:9946200-9949600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr2:9946400-9946600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:9946400-9946800	Bivalent Enhancer	Fetal Stomach	stomach
40	chr2:9946600-9946800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:9946600-9949000	Weak transcription	Gastric	stomach
42	chr2:9946600-9953400	Weak transcription	Right Ventricle	heart
43	chr2:9947000-9947400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:9947000-9948800	Weak transcription	Pancreas	Pancrea
45	chr2:9947200-9947600	Weak transcription	Placenta	Placenta
46	chr2:9947400-9947600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:9947400-9947600	Bivalent Enhancer	Fetal Stomach	stomach
48	chr2:9947400-9948000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr2:9947400-9948200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:9947600-9948000	Enhancers	Spleen	Spleen

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