Variant report

Variant	nsv469416
Chromosome Location	chr2:9949464-9975557
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:85)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:85 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:9954551..9956379-chr2:9958340..9960055,2	K562	blood:
2	chr2:9952585..9955462-chr2:9959911..9962016,2	MCF-7	breast:
3	chr2:9952816..9955217-chr2:10179305..10181124,2	K562	blood:
4	chr2:9953722..9954621-chr2:10198383..10198907,2	K562	blood:
5	chr2:9972632..9974449-chr2:9983622..9986276,2	MCF-7	breast:
6	chr2:9951629..9954793-chr2:10090886..10093950,3	MCF-7	breast:
7	chr2:9957012..9961532-chr2:9962183..9964607,4	MCF-7	breast:
8	chr2:9965219..9967843-chr2:9969435..9971362,2	K562	blood:
9	chr2:9954066..9954585-chr2:9970189..9971149,2	MCF-7	breast:
10	chr2:9955633..9957217-chr2:9981364..9983659,2	MCF-7	breast:
11	chr2:9962243..9964669-chr2:10088779..10091216,2	MCF-7	breast:
12	chr2:9953510..9955032-chr2:9983493..9985198,2	MCF-7	breast:
13	chr2:9952585..9955462-chr2:9959911..9962016,2	MCF-7	breast:
14	chr2:9968571..9971604-chr2:9981989..9985687,7	MCF-7	breast:
15	chr2:9952171..9953849-chr2:9962646..9965376,2	MCF-7	breast:
16	chr2:9948192..9950621-chr2:10182726..10184931,3	MCF-7	breast:
17	chr2:9937133..9939802-chr2:9958329..9960666,2	MCF-7	breast:
18	chr2:9948913..9951655-chr2:9969307..9971290,2	MCF-7	breast:
19	chr2:9974928..9977095-chr2:10090981..10093622,2	MCF-7	breast:
20	chr2:9951674..9954142-chr2:10158863..10161812,2	MCF-7	breast:
21	chr2:9964138..9966578-chr2:9982711..9984277,2	K562	blood:
22	chr2:9965219..9967843-chr2:9969435..9971362,2	K562	blood:
23	chr2:9939670..9940467-chr2:9953617..9954536,3	K562	blood:
24	chr2:9953452..9957551-chr2:10260663..10263596,3	K562	blood:
25	chr2:9975331..9978293-chr2:9978387..9980016,2	K562	blood:
26	chr2:9952171..9953849-chr2:9962646..9965376,2	MCF-7	breast:
27	chr2:9970684..9971435-chr2:9983705..9984702,2	MCF-7	breast:
28	chr2:9975372..9980699-chr2:9981311..9986654,9	K562	blood:
29	chr2:9949625..9951614-chr2:9969038..9971229,2	MCF-7	breast:
30	chr2:9939775..9940459-chr2:9953750..9954369,2	MCF-7	breast:
31	chr2:9949625..9951614-chr2:9969038..9971229,2	MCF-7	breast:
32	chr2:9953495..9955824-chr2:9964200..9966123,2	K562	blood:
33	chr2:9948773..9949474-chr2:9970552..9971153,2	MCF-7	breast:
34	chr2:9969721..9971338-chr2:10260960..10263822,2	K562	blood:
35	chr2:9947583..9953611-chr2:9980461..9984922,8	MCF-7	breast:
36	chr2:9954066..9954585-chr2:9970189..9971149,2	MCF-7	breast:
37	chr2:9945041..9950358-chr2:10256783..10262735,6	K562	blood:
38	chr2:9971098..9974311-chr2:9982835..9984808,3	K562	blood:
39	chr2:9953957..9955549-chr2:9981308..9984882,3	MCF-7	breast:
40	chr2:9958265..9960358-chr2:9982422..9984915,2	MCF-7	breast:
41	chr2:9941486..9944395-chr2:9967791..9970762,3	MCF-7	breast:
42	chr2:9953518..9955551-chr2:9982187..9983983,2	K562	blood:
43	chr2:9948773..9949474-chr2:9970552..9971153,2	MCF-7	breast:
44	chr2:9954114..9958283-chr2:10172857..10175994,4	K562	blood:
45	chr2:9945375..9947276-chr2:9949205..9951851,2	K562	blood:
46	chr2:9952588..9955831-chr2:9967859..9972229,5	MCF-7	breast:
47	chr2:9951073..9955556-chr2:10089913..10091836,5	MCF-7	breast:
48	chr2:9954081..9954722-chr5:16726991..16727551,2	MCF-7	breast:
49	chr2:9955031..9957285-chr2:10091673..10093774,2	K562	blood:
50	chr2:9953775..9955121-chr2:10188515..10189751,8	K562	blood:

No data

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

Extended variants
information (count: 1035 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1035 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16867175	chr2:9949464-9949465	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571502000	chr2:9949467-9949468	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs564960896	chr2:9949485-9949486	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs534066269	chr2:9949493-9949494	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs148848809	chr2:9949506-9949507	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs114843365	chr2:9949559-9949560	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs536221268	chr2:9949649-9949650	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs34999319	chr2:9949674-9949675	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs556433333	chr2:9949679-9949680	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs370789222	chr2:9949682-9949683	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs372850135	chr2:9949716-9949717	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs375853890	chr2:9949728-9949729	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs55686115	chr2:9949741-9949742	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs572254249	chr2:9949757-9949758	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs541147884	chr2:9949767-9949768	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs77022717	chr2:9949769-9949770	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs374689508	chr2:9949789-9949790	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs188449322	chr2:9949822-9949823	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs79111324	chr2:9949846-9949847	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs143517902	chr2:9949847-9949848	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs531926543	chr2:9949867-9949868	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs551647283	chr2:9949875-9949876	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs532599342	chr2:9949891-9949892	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs552755685	chr2:9949909-9949910	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs527855363	chr2:9949920-9949921	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs111618575	chr2:9949948-9949949	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs76402857	chr2:9949966-9949967	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs79820288	chr2:9950003-9950004	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs558744030	chr2:9950012-9950013	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs77892131	chr2:9950040-9950041	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs375268291	chr2:9950046-9950047	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs570057774	chr2:9950056-9950057	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs115655694	chr2:9950061-9950062	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs558869297	chr2:9950093-9950094	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs75056203	chr2:9950165-9950166	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs141720974	chr2:9950201-9950202	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs17363526	chr2:9950220-9950221	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs374686160	chr2:9950225-9950226	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs145988354	chr2:9950252-9950253	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs543498105	chr2:9950278-9950279	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs544978905	chr2:9950282-9950283	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs575526630	chr2:9950284-9950285	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs530079820	chr2:9950302-9950303	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs562982633	chr2:9950314-9950315	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs180876836	chr2:9950319-9950320	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs545318546	chr2:9950339-9950340	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs79426523	chr2:9950362-9950363	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs560524314	chr2:9950412-9950413	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs547631428	chr2:9950413-9950414	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs561529787	chr2:9950445-9950446	Weak transcription Enhancers	Chromatin interactive region	2 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:503 , 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	chr2:9940600-9949800	Weak transcription	Lung	lung
4	chr2:9941800-9951800	Weak transcription	Psoas Muscle	Psoas
5	chr2:9945400-9950200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:9945800-9949600	Weak transcription	HSMM	muscle
7	chr2:9946000-9950200	Enhancers	Esophagus	oesophagus
8	chr2:9946000-9953600	Weak transcription	Osteobl	bone
9	chr2:9946200-9949600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:9946600-9953400	Weak transcription	Right Ventricle	heart
11	chr2:9947600-9949800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:9947600-9950000	Enhancers	Placenta	Placenta
13	chr2:9948000-9949800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:9948000-9952000	Weak transcription	Spleen	Spleen
15	chr2:9948400-9949800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:9948400-9950200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:9948400-9950200	Enhancers	Stomach Mucosa	stomach
18	chr2:9948400-9953200	Enhancers	NHEK	skin
19	chr2:9948600-9950000	Enhancers	HMEC	breast
20	chr2:9948600-9950400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:9948800-9950000	Enhancers	Pancreas	Pancrea
22	chr2:9949000-9950200	Enhancers	Duodenum Mucosa	Duodenum
23	chr2:9949000-9950200	Enhancers	Gastric	stomach
24	chr2:9949000-9950200	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr2:9949200-9949800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:9949200-9950000	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr2:9949200-9950200	Enhancers	Fetal Intestine Small	intestine
28	chr2:9949200-9950200	Enhancers	Fetal Thymus	thymus
29	chr2:9949400-9949800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:9949400-9950000	Enhancers	Fetal Intestine Large	intestine
31	chr2:9949400-9950000	Enhancers	Placenta Amnion	Placenta Amnion
32	chr2:9949400-9950000	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr2:9949400-9950200	Enhancers	Colonic Mucosa	Colon
34	chr2:9949400-9950200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr2:9949400-9950200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr2:9949400-9950200	Enhancers	HSMMtube	muscle
37	chr2:9949400-9950600	Enhancers	Fetal Muscle Leg	muscle
38	chr2:9949600-9950000	Enhancers	HSMM	muscle
39	chr2:9949600-9950200	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr2:9949800-9950000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:9949800-9950000	Enhancers	Lung	lung
42	chr2:9949800-9950200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr2:9949800-9950200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:9949800-9951400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:9949800-9954200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:9950000-9951800	Weak transcription	Pancreas	Pancrea
47	chr2:9950000-9952200	Weak transcription	Placenta	Placenta
48	chr2:9950000-9953400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:9950000-9953600	Weak transcription	Fetal Intestine Large	intestine
50	chr2:9950000-9953600	Weak transcription	Rectal Mucosa Donor 29	rectum

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