Variant report

Variant	esv3453878
Chromosome Location	chr1:153960428-153962010
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	chr1:153917215..153920392-chr1:153961808..153965282,6	K562	blood:
2	chr1:153961765..153965852-chr1:154152407..154156955,8	K562	blood:
3	chr1:153961938..153967162-chr1:154189861..154195978,9	K562	blood:
4	chr1:153956669..153960770-chr1:153962921..153965060,7	MCF-7	breast:
5	chr1:153587320..153590389-chr1:153961977..153964673,3	MCF-7	breast:
6	chr1:153890756..153897034-chr1:153961597..153964863,14	K562	blood:
7	chr1:153629459..153632821-chr1:153961630..153966753,5	K562	blood:
8	chr1:153959341..153960872-chr1:154191508..154193330,2	MCF-7	breast:
9	chr1:153961881..153966027-chr1:154151379..154156773,10	MCF-7	breast:
10	chr1:153699974..153702840-chr1:153961694..153964834,3	K562	blood:
11	chr1:153747289..153750894-chr1:153961895..153964874,3	MCF-7	breast:
12	chr1:153642202..153645171-chr1:153961721..153964784,6	K562	blood:
13	chr1:153959573..153961568-chr1:154154463..154157194,2	MCF-7	breast:
14	chr1:153961855..153964878-chr1:154149314..154153044,5	K562	blood:
15	chr1:153745179..153749280-chr1:153961747..153968478,7	MCF-7	breast:
16	chr1:153961971..153964744-chr6:27100182..27102088,2	K562	blood:
17	chr1:153754805..153756401-chr1:153959056..153960876,2	K562	blood:
18	chr1:153652530..153654579-chr1:153961932..153964850,2	K562	blood:
19	chr1:153642259..153645171-chr1:153961754..153965588,6	K562	blood:
20	chr1:153961745..153965852-chr1:154153352..154156776,9	K562	blood:
21	chr1:153893510..153896669-chr1:153958441..153960611,3	K562	blood:
22	chr1:153605618..153608356-chr1:153961854..153964729,2	MCF-7	breast:
23	chr1:153905142..153906836-chr1:153961384..153963973,2	K562	blood:
24	chr1:153961925..153965410-chr1:154146555..154149414,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272030	chromatin interactions
ENSG00000198837	chromatin interactions
ENSG00000177954	chromatin interactions
ENSG00000143621	chromatin interactions
ENSG00000160679	chromatin interactions
ENSG00000143549	chromatin interactions
ENSG00000143624	chromatin interactions
ENSG00000143553	chromatin interactions
ENSG00000143554	chromatin interactions
ENSG00000124635	chromatin interactions
ENSG00000143569	chromatin interactions
ENSG00000169418	chromatin interactions
ENSG00000143614	chromatin interactions
ENSG00000196787	chromatin interactions
ENSG00000189171	chromatin interactions
ENSG00000189334	chromatin interactions
ENSG00000143612	chromatin interactions
ENSG00000271853	chromatin interactions

Extended variants
information (count: 51 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200746815	chr1:153960434-153960435	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs534113152	chr1:153960441-153960442	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs143488449	chr1:153960444-153960445	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs558853974	chr1:153960447-153960448	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs577118486	chr1:153960452-153960453	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs538670290	chr1:153960458-153960459	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs556641058	chr1:153960472-153960473	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs575298721	chr1:153960532-153960533	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs542327201	chr1:153960596-153960597	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs111762133	chr1:153960730-153960731	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs552724489	chr1:153960770-153960771	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs147480212	chr1:153960792-153960793	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs139985350	chr1:153960839-153960840	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs536501830	chr1:153960841-153960842	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs190263830	chr1:153960901-153960902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs182851219	chr1:153960908-153960909	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs544598997	chr1:153960928-153960929	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs562713582	chr1:153960941-153960942	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs113396513	chr1:153960958-153960959	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs187131022	chr1:153960974-153960975	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs548429038	chr1:153960991-153960992	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs199828437	chr1:153961009-153961010	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs147303856	chr1:153961049-153961050	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs527929321	chr1:153961056-153961057	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs552345549	chr1:153961063-153961064	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs566447663	chr1:153961068-153961069	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs570817556	chr1:153961070-153961071	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs538107091	chr1:153961161-153961162	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs543936197	chr1:153961193-153961194	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs191551530	chr1:153961199-153961200	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs536228407	chr1:153961255-153961256	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs554733345	chr1:153961303-153961304	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs139919947	chr1:153961388-153961389	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs369861230	chr1:153961447-153961448	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs111506658	chr1:153961506-153961507	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs373194793	chr1:153961661-153961662	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs558738834	chr1:153961698-153961699	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs577090325	chr1:153961703-153961704	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs535397163	chr1:153961715-153961716	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs375966332	chr1:153961716-153961717	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs544144913	chr1:153961718-153961719	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs562787113	chr1:153961751-153961752	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs530069694	chr1:153961775-153961776	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs541820622	chr1:153961776-153961777	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs12563539	chr1:153961784-153961785	Weak transcription	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs111961917	chr1:153961850-153961851	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs545061604	chr1:153961880-153961881	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs56296575	chr1:153961927-153961928	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs184214093	chr1:153961955-153961956	Weak transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
50	rs532043684	chr1:153961959-153961960	Weak transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	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
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Liver carcinoma	19366792	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153958600-153962800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:153958800-153962600	Weak transcription	Lung	lung
3	chr1:153958800-153962600	Weak transcription	Spleen	Spleen
4	chr1:153958800-153962800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:153959000-153962600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:153959200-153962600	Weak transcription	Pancreas	Pancrea
7	chr1:153959200-153963200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:153959200-153963200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:153959400-153961400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:153959400-153962600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:153959400-153962600	Weak transcription	Placenta	Placenta
12	chr1:153959400-153962800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:153959400-153963200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:153959600-153962400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:153959600-153962400	Weak transcription	Brain Germinal Matrix	brain
16	chr1:153959600-153962400	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:153959600-153962600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:153959600-153962600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr1:153959600-153962600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:153959600-153962600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:153959600-153962600	Weak transcription	Fetal Brain Male	brain
22	chr1:153959600-153962800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:153959600-153962800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:153959600-153962800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:153959600-153962800	Weak transcription	Adipose Nuclei	Adipose
26	chr1:153959600-153962800	Weak transcription	Liver	Liver
27	chr1:153959600-153962800	Weak transcription	Brain Angular Gyrus	brain
28	chr1:153959600-153962800	Weak transcription	Colonic Mucosa	Colon
29	chr1:153959600-153962800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:153959600-153962800	Weak transcription	Fetal Kidney	kidney
31	chr1:153959600-153962800	Weak transcription	Fetal Lung	lung
32	chr1:153959600-153962800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:153959600-153962800	Weak transcription	HSMM	muscle
34	chr1:153959600-153962800	Weak transcription	HUVEC	blood vessel
35	chr1:153959600-153962800	Weak transcription	Osteobl	bone
36	chr1:153959600-153963000	Weak transcription	Fetal Heart	heart
37	chr1:153959800-153962400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr1:153959800-153962400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr1:153959800-153962400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:153959800-153962400	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr1:153959800-153962400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:153959800-153962400	Weak transcription	Dnd41	blood
43	chr1:153959800-153962400	Weak transcription	K562	blood
44	chr1:153959800-153962600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:153959800-153962600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:153959800-153962600	Weak transcription	Brain Anterior Caudate	brain
47	chr1:153959800-153962600	Weak transcription	Fetal Muscle Leg	muscle
48	chr1:153959800-153962600	Weak transcription	Fetal Stomach	stomach
49	chr1:153959800-153962600	Weak transcription	A549	lung
50	chr1:153959800-153962600	Weak transcription	NHLF	lung

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