Variant report

Variant	esv2756904
Chromosome Location	chr2:10347142-10406706
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:125)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:125 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr2:10380576..10383459-chr2:10443654..10445741,2	K562	blood:
2	chr2:10376539..10378609-chr2:10444548..10446781,3	K562	blood:
3	chr2:10381249..10383856-chr2:10384765..10387330,3	MCF-7	breast:
4	chr2:10277542..10280020-chr2:10400338..10402509,2	MCF-7	breast:
5	chr2:10344349..10346575-chr2:10349485..10351710,2	MCF-7	breast:
6	chr2:10357604..10359556-chr2:10380335..10382932,2	MCF-7	breast:
7	chr2:10363587..10365584-chr2:10371559..10374081,2	K562	blood:
8	chr2:10372926..10376124-chr2:10586887..10589530,3	K562	blood:
9	chr2:10399118..10401430-chr2:10441460..10444250,2	K562	blood:
10	chr2:10393518..10395785-chr2:10396578..10398775,3	K562	blood:
11	chr2:10364084..10367061-chr2:10372581..10374808,2	K562	blood:
12	chr2:10382805..10384733-chr2:10392975..10395237,2	MCF-7	breast:
13	chr2:10365290..10368319-chr2:10370625..10373445,3	MCF-7	breast:
14	chr2:10382224..10385160-chr2:10393761..10396666,3	K562	blood:
15	chr2:10390359..10393912-chr2:10395616..10397789,3	MCF-7	breast:
16	chr2:10378618..10381551-chr2:10586923..10589495,3	K562	blood:
17	chr2:10381968..10383865-chr2:10397779..10401214,3	K562	blood:
18	chr2:10401968..10404721-chr2:10588280..10589854,2	K562	blood:
19	chr2:10379912..10383317-chr2:10383321..10386920,7	K562	blood:
20	chr2:10391362..10392951-chr2:10396455..10398148,2	MCF-7	breast:
21	chr2:10273672..10275632-chr2:10379805..10383115,3	K562	blood:
22	chr2:10383798..10386066-chr2:10388103..10389788,2	K562	blood:
23	chr2:10392978..10395026-chr2:10400491..10403143,2	K562	blood:
24	chr2:10391362..10392951-chr2:10396455..10398148,2	MCF-7	breast:
25	chr2:10390216..10392026-chr2:10392709..10394870,2	K562	blood:
26	chr2:10370836..10374601-chr2:10463376..10467418,3	K562	blood:
27	chr2:10352602..10354236-chr2:10355542..10357562,2	K562	blood:
28	chr2:10396329..10399682-chr2:10404983..10407952,4	K562	blood:
29	chr2:10326687..10328532-chr2:10350704..10352850,2	K562	blood:
30	chr2:10359472..10362167-chr2:10583974..10586621,2	K562	blood:
31	chr2:10357831..10359607-chr2:10365467..10367215,2	K562	blood:
32	chr2:10359643..10362171-chr2:10579070..10581168,2	K562	blood:
33	chr2:10260780..10262972-chr2:10358625..10360506,2	K562	blood:
34	chr2:10333609..10335207-chr2:10346879..10348820,2	K562	blood:
35	chr2:10402938..10406350-chr2:10406661..10410178,4	K562	blood:
36	chr2:10393158..10395246-chr2:10447953..10450764,2	K562	blood:
37	chr2:10376915..10378477-chr2:10380255..10383214,2	K562	blood:
38	chr2:10395441..10397199-chr2:10398959..10400526,2	K562	blood:
39	chr2:10350742..10353533-chr2:10359619..10362115,2	K562	blood:
40	chr2:10376915..10378477-chr2:10380255..10383214,2	K562	blood:
41	chr2:10357604..10359556-chr2:10380335..10382932,2	MCF-7	breast:
42	chr2:10400709..10402534-chr2:10403743..10407467,3	K562	blood:
43	chr2:10392294..10394554-chr2:10441498..10444201,2	MCF-7	breast:
44	chr2:10332239..10334977-chr2:10351210..10352772,2	K562	blood:
45	chr2:10372607..10375030-chr2:10377029..10379105,2	K562	blood:
46	chr2:10393816..10396195-chr2:10396463..10398595,2	MCF-7	breast:
47	chr2:10363646..10365657-chr2:10382522..10385441,2	K562	blood:
48	chr2:10277738..10279513-chr2:10379719..10382264,2	K562	blood:
49	chr2:10393709..10396218-chr2:10398784..10401137,2	MCF-7	breast:
50	chr2:10343616..10346370-chr2:10368491..10370304,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272524	chromatin interactions
ENSG00000264030	chromatin interactions
ENSG00000257135	chromatin interactions
ENSG00000206898	chromatin interactions
ENSG00000171848	chromatin interactions
ENSG00000115756	chromatin interactions
ENSG00000115758	chromatin interactions
ENSG00000206633	chromatin interactions
ENSG00000265418	chromatin interactions

Extended variants
information (count: 2771 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2771 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16855952	chr2:10347142-10347143	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540054035	chr2:10347144-10347145	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149150505	chr2:10347146-10347147	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566431390	chr2:10347159-10347160	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367815586	chr2:10347185-10347186	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187354775	chr2:10347186-10347187	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373732801	chr2:10347240-10347241	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143277598	chr2:10347243-10347244	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538589284	chr2:10347261-10347262	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574419534	chr2:10347282-10347283	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190801297	chr2:10347352-10347353	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553866088	chr2:10347402-10347403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181692304	chr2:10347437-10347438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114667326	chr2:10347474-10347475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371400296	chr2:10347511-10347512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528959763	chr2:10347512-10347513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112531890	chr2:10347549-10347550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561927707	chr2:10347565-10347566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550625258	chr2:10347605-10347606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547552489	chr2:10347607-10347608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569368486	chr2:10347608-10347609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566189085	chr2:10347620-10347621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544290901	chr2:10347624-10347625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368708368	chr2:10347627-10347628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs887962	chr2:10347635-10347636	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs111550063	chr2:10347643-10347644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570314574	chr2:10347668-10347669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537735856	chr2:10347707-10347708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556134988	chr2:10347711-10347712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114181114	chr2:10347716-10347717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141476953	chr2:10347718-10347719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs887963	chr2:10347737-10347738	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs540204364	chr2:10347825-10347826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147076188	chr2:10347849-10347850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545547555	chr2:10347865-10347866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72788366	chr2:10347885-10347886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185820843	chr2:10347964-10347965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138484258	chr2:10347967-10347968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577428259	chr2:10347974-10347975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562045018	chr2:10347987-10347988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4668669	chr2:10348018-10348019	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs533312607	chr2:10348019-10348020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372354811	chr2:10348153-10348154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559550650	chr2:10348205-10348206	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533466333	chr2:10348231-10348232	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554455096	chr2:10348243-10348244	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs878170	chr2:10348348-10348349	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs546550408	chr2:10348386-10348387	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563152438	chr2:10348450-10348451	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576403771	chr2:10348482-10348483	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Neuroblastoma	18923524	CNVD
Pancreatic cancer	17952125	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:543 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10290200-10351400	Strong transcription	Dnd41	blood
2	chr2:10335200-10348600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr2:10337200-10349600	Weak transcription	Spleen	Spleen
4	chr2:10338600-10351200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr2:10339400-10350600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:10339400-10362000	Weak transcription	Fetal Intestine Small	intestine
7	chr2:10341800-10354400	Weak transcription	HepG2	liver
8	chr2:10342200-10348600	Weak transcription	A549	lung
9	chr2:10343600-10360400	Weak transcription	HSMM	muscle
10	chr2:10344200-10348200	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:10345400-10348400	Weak transcription	Fetal Brain Male	brain
12	chr2:10345400-10349600	Weak transcription	Fetal Brain Female	brain
13	chr2:10345600-10348200	Weak transcription	Brain Germinal Matrix	brain
14	chr2:10345600-10350200	Weak transcription	Thymus	Thymus
15	chr2:10345600-10352800	Weak transcription	Fetal Thymus	thymus
16	chr2:10347000-10347400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:10347400-10356400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:10348200-10349000	Enhancers	Fetal Muscle Trunk	muscle
19	chr2:10348200-10350200	Enhancers	Brain Germinal Matrix	brain
20	chr2:10348200-10350800	Enhancers	Fetal Muscle Leg	muscle
21	chr2:10348400-10349800	Enhancers	Fetal Brain Male	brain
22	chr2:10348600-10349400	Enhancers	HMEC	breast
23	chr2:10348600-10349600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:10348800-10349200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:10348800-10349200	Enhancers	Esophagus	oesophagus
26	chr2:10348800-10349800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:10348800-10349800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:10349000-10351200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr2:10349600-10349800	Enhancers	Fetal Brain Female	brain
30	chr2:10349600-10349800	ZNF genes & repeats	Spleen	Spleen
31	chr2:10349600-10350200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:10349800-10359400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:10349800-10362400	Weak transcription	Spleen	Spleen
34	chr2:10350200-10351000	Strong transcription	Thymus	Thymus
35	chr2:10350200-10351600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:10350400-10375200	Weak transcription	Right Atrium	heart
37	chr2:10350600-10351000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:10350800-10351200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr2:10350800-10352600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:10351000-10353600	Weak transcription	Thymus	Thymus
41	chr2:10351000-10354400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:10351200-10351800	Enhancers	H1 Cell Line	embryonic stem cell
43	chr2:10351400-10353000	Weak transcription	Dnd41	blood
44	chr2:10351600-10351800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:10351800-10354400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr2:10351800-10357400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr2:10352600-10356200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:10354400-10354600	Enhancers	HepG2	liver
49	chr2:10354400-10354800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:10354400-10355000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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