Variant report

Variant	nsv1003855
Chromosome Location	chr2:10045055-10059844
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10037000..10039031-chr2:10044234..10045895,2	MCF-7	breast:
2	chr2:10055984..10058361-chr2:10061943..10063449,2	MCF-7	breast:
3	chr2:10045993..10047524-chr2:10050988..10053341,2	K562	blood:
4	chr2:10047372..10050689-chr2:10052531..10055799,4	MCF-7	breast:
5	chr2:10039201..10042198-chr2:10045779..10048080,2	MCF-7	breast:
6	chr2:10036109..10038742-chr2:10044743..10047677,2	K562	blood:
7	chr2:9940189..9942989-chr2:10049056..10050927,2	MCF-7	breast:
8	chr2:10037952..10040907-chr2:10047681..10050214,2	K562	blood:
9	chr2:10053405..10055914-chr2:10061703..10064557,2	K562	blood:
10	chr2:10054861..10056659-chr2:10057768..10060141,2	K562	blood:
11	chr2:10047372..10050689-chr2:10052531..10055799,4	MCF-7	breast:
12	chr2:10058951..10060878-chr2:10081099..10082615,2	K562	blood:
13	chr2:10053405..10055914-chr2:10061703..10065567,3	K562	blood:
14	chr2:10045085..10047212-chr2:10048163..10049823,2	K562	blood:
15	chr2:10049796..10051308-chr2:10053649..10056131,2	K562	blood:
16	chr2:10037949..10040040-chr2:10055239..10057291,2	MCF-7	breast:
17	chr2:10045993..10047524-chr2:10050988..10053341,2	K562	blood:
18	chr2:9940167..9943661-chr2:10053697..10057580,3	MCF-7	breast:
19	chr2:10045085..10047212-chr2:10048163..10049823,2	K562	blood:
20	chr2:10049796..10051308-chr2:10053649..10056131,2	K562	blood:
21	chr2:10045831..10047655-chr2:10091725..10093739,2	MCF-7	breast:
22	chr2:10054070..10056636-chr2:10061535..10064977,4	MCF-7	breast:
23	chr2:10054861..10056659-chr2:10057768..10060141,2	K562	blood:
24	chr2:10036313..10038528-chr2:10044301..10045845,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000134317	chromatin interactions

Extended variants
information (count: 610 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16867223	chr2:10045055-10045056	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141776880	chr2:10045082-10045083	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555519382	chr2:10045085-10045086	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575554596	chr2:10045087-10045088	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138651506	chr2:10045097-10045098	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116114439	chr2:10045113-10045114	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375580603	chr2:10045118-10045119	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374893764	chr2:10045132-10045133	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs448327	chr2:10045147-10045148	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs577431319	chr2:10045163-10045164	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373091048	chr2:10045165-10045166	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375232148	chr2:10045173-10045174	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540070539	chr2:10045175-10045176	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116687426	chr2:10045243-10045244	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529025226	chr2:10045314-10045315	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542695358	chr2:10045358-10045359	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562350911	chr2:10045360-10045361	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs514905	chr2:10045401-10045402	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs71437682	chr2:10045474-10045475	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs571198023	chr2:10045479-10045480	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533647853	chr2:10045531-10045532	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143234253	chr2:10045545-10045546	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567046030	chr2:10045547-10045548	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79521717	chr2:10045564-10045565	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181564698	chr2:10045593-10045594	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs80168535	chr2:10045641-10045642	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186331869	chr2:10045644-10045645	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557714484	chr2:10045645-10045646	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11682339	chr2:10045655-10045656	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs540131610	chr2:10045661-10045662	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553722266	chr2:10045668-10045669	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148308584	chr2:10045682-10045683	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11686239	chr2:10045717-10045718	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs74754713	chr2:10045753-10045754	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10191281	chr2:10045796-10045797	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531421123	chr2:10045809-10045810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71391109	chr2:10045836-10045837	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs386389504	chr2:10045837-10045838	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs141455540	chr2:10045854-10045855	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs564873000	chr2:10045867-10045868	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs533711905	chr2:10045883-10045884	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs36038192	chr2:10045909-10045910	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs4669487	chr2:10045924-10045925	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs79952654	chr2:10045944-10045945	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs139873396	chr2:10045960-10045961	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs189569115	chr2:10045963-10045964	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs33926842	chr2:10045965-10045966	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs561944170	chr2:10045980-10045981	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs138397118	chr2:10045995-10045996	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs4669488	chr2:10045996-10045997	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:61)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:569 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9993800-10079600	Weak transcription	Gastric	stomach
2	chr2:9999200-10053800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr2:10014800-10045400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr2:10017800-10073000	Weak transcription	Right Ventricle	heart
5	chr2:10024400-10053800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr2:10024800-10047600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:10024800-10051400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:10025000-10047000	Weak transcription	Thymus	Thymus
9	chr2:10025000-10053800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:10025000-10053800	Weak transcription	Ovary	ovary
11	chr2:10025000-10054400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:10025000-10054400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:10025000-10054400	Weak transcription	Spleen	Spleen
14	chr2:10025400-10052600	Weak transcription	Left Ventricle	heart
15	chr2:10026000-10072800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:10027000-10047000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:10027400-10052200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:10027400-10053400	Weak transcription	Fetal Brain Male	brain
19	chr2:10027600-10052000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr2:10028200-10051000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:10028200-10053800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:10030400-10077200	Weak transcription	Aorta	Aorta
23	chr2:10030600-10080600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:10033000-10052800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:10036000-10065800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:10036400-10047800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:10036400-10052200	Weak transcription	Liver	Liver
28	chr2:10036600-10047600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:10036600-10076200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr2:10036800-10051800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:10036800-10073000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr2:10037000-10047400	Weak transcription	Fetal Intestine Large	intestine
33	chr2:10037200-10047200	Weak transcription	Primary T cells from cord blood	blood
34	chr2:10037200-10051800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:10037200-10080400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr2:10037600-10046000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr2:10037800-10045600	Weak transcription	HepG2	liver
38	chr2:10037800-10075600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr2:10038000-10047000	Weak transcription	Fetal Intestine Small	intestine
40	chr2:10038000-10047000	Weak transcription	Fetal Muscle Leg	muscle
41	chr2:10038000-10049800	Weak transcription	K562	blood
42	chr2:10038000-10052600	Weak transcription	Fetal Kidney	kidney
43	chr2:10038000-10052800	Weak transcription	HUVEC	blood vessel
44	chr2:10038000-10053000	Weak transcription	Adipose Nuclei	Adipose
45	chr2:10038000-10053600	Weak transcription	Fetal Lung	lung
46	chr2:10038000-10053800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr2:10038400-10048800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:10038400-10051400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:10038400-10051400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:10038400-10053000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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