Variant report

Variant	nsv872835
Chromosome Location	chr1:194014041-194051568
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:194034954..194036751-chr1:194037029..194038550,2	MCF-7	breast:
2	chr1:194034954..194036751-chr1:194037029..194038550,2	MCF-7	breast:
3	chr1:194026694..194028807-chr1:194030753..194032744,2	K562	blood:
4	chr1:194030362..194032550-chr1:194034091..194036103,2	MCF-7	breast:
5	chr1:194026694..194028807-chr1:194030753..194032744,2	K562	blood:
6	chr1:194040189..194042332-chr11:65188813..65191352,2	MCF-7	breast:
7	chr1:194030362..194032550-chr1:194034091..194036103,2	MCF-7	breast:
8	chr1:194008904..194011253-chr1:194016143..194019072,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000245532	chromatin interactions

Extended variants
information (count: 1450 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1450 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11803098	chr1:194014041-194014042	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188734520	chr1:194014050-194014051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143675183	chr1:194014062-194014063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570411309	chr1:194014099-194014100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs193287093	chr1:194014107-194014108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553316948	chr1:194014164-194014165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536657774	chr1:194014177-194014178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574769365	chr1:194014179-194014180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535915159	chr1:194014200-194014201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557190109	chr1:194014215-194014216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146310139	chr1:194014236-194014237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557532437	chr1:194014402-194014403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs61831361	chr1:194014440-194014441	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs537543448	chr1:194014442-194014443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs199824818	chr1:194014452-194014453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573564968	chr1:194014479-194014480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369569158	chr1:194014518-194014519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79791774	chr1:194014528-194014529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182797024	chr1:194014542-194014543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187267949	chr1:194014547-194014548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373925985	chr1:194014605-194014606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149748372	chr1:194014611-194014612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192149498	chr1:194014629-194014630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112406806	chr1:194014635-194014636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530568390	chr1:194014664-194014665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113068411	chr1:194014698-194014699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553266176	chr1:194014702-194014703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77287166	chr1:194014744-194014745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73062798	chr1:194014768-194014769	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs145668371	chr1:194014792-194014793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563290010	chr1:194014852-194014853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546601686	chr1:194014853-194014854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568406330	chr1:194014935-194014936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535489689	chr1:194015009-194015010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557378364	chr1:194015011-194015012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183828264	chr1:194015049-194015050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74131276	chr1:194015137-194015138	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs558366015	chr1:194015141-194015142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373331494	chr1:194015154-194015155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545865669	chr1:194015197-194015198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10733081	chr1:194015205-194015206	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs17549691	chr1:194015337-194015338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546780438	chr1:194015388-194015389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200627585	chr1:194015406-194015407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35261917	chr1:194015407-194015408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs397781781	chr1:194015412-194015413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574331112	chr1:194015445-194015446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370379164	chr1:194015468-194015469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541460613	chr1:194015481-194015482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562984679	chr1:194015485-194015486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:208 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194010200-194020800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:194012800-194014400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr1:194013000-194014600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:194013000-194015200	Enhancers	NHEK	skin
5	chr1:194013200-194014200	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr1:194013200-194014200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr1:194013200-194014200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:194013200-194014400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:194013200-194014400	Enhancers	Primary T cells from cord blood	blood
10	chr1:194013200-194014400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr1:194013200-194016600	Enhancers	Hela-S3	cervix
12	chr1:194013600-194014200	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr1:194013600-194014200	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr1:194013800-194014400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:194013800-194015000	Enhancers	A549	lung
16	chr1:194014200-194015200	Enhancers	HUVEC	blood vessel
17	chr1:194014400-194020200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr1:194014400-194020800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr1:194018600-194019200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr1:194019000-194019200	Enhancers	Small Intestine	intestine
21	chr1:194020200-194021600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr1:194020400-194030800	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr1:194020600-194021800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:194020800-194021400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr1:194020800-194021400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:194020800-194021400	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr1:194020800-194021600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr1:194020800-194030800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr1:194021000-194021800	Enhancers	Primary T cells from cord blood	blood
30	chr1:194021000-194022400	Enhancers	Thymus	Thymus
31	chr1:194021000-194023600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr1:194021200-194021600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:194021200-194022400	Enhancers	Primary T cells fromperipheralblood	blood
34	chr1:194021200-194022400	Enhancers	Fetal Thymus	thymus
35	chr1:194021200-194024800	Weak transcription	Small Intestine	intestine
36	chr1:194021200-194027600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr1:194021400-194021600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr1:194021400-194022200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr1:194021400-194022400	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr1:194021400-194022400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:194021400-194022400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:194021400-194022400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:194021600-194021800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr1:194021600-194022000	Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr1:194021600-194022200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:194021600-194022400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr1:194021800-194022000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr1:194021800-194022000	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr1:194021800-194022200	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr1:194021800-194022400	Enhancers	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links