Variant report

Variant	esv3357014
Chromosome Location	chr1:155779078-155780576
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:155780340-155780490	GM12867	blood:	n/a	n/a
2	POLR2A	chr1:155780351-155780470	MCF-7	breast:	n/a	n/a
3	POLR2A	chr1:155780348-155780466	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:155779007..155780786-chr1:155785874..155788055,2	K562	blood:

Variant related genes	Relation type
GON4L	TF binding region

Extended variants
information (count: 77 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555433829	chr1:155779080-155779081	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs190380291	chr1:155779086-155779087	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs541984328	chr1:155779100-155779101	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs560221342	chr1:155779109-155779110	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs548394458	chr1:155779144-155779145	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs182534138	chr1:155779155-155779156	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs568498920	chr1:155779305-155779306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139107691	chr1:155779325-155779326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs56276006	chr1:155779490-155779491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12724115	chr1:155779515-155779516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs58165146	chr1:155779531-155779532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12724132	chr1:155779540-155779541	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61391222	chr1:155779556-155779557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191442144	chr1:155779565-155779566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10587822	chr1:155779581-155779582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182558061	chr1:155779590-155779591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10587823	chr1:155779606-155779607	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189196831	chr1:155779615-155779616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10587824	chr1:155779631-155779632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs193114838	chr1:155779640-155779641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10587825	chr1:155779655-155779656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34652946	chr1:155779656-155779657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12748077	chr1:155779661-155779662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371750756	chr1:155779665-155779666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374712688	chr1:155779680-155779681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574045805	chr1:155779681-155779682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71080727	chr1:155779688-155779689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531443545	chr1:155779706-155779707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549941305	chr1:155779712-155779713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568143124	chr1:155779729-155779730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs57318763	chr1:155779742-155779743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs202132715	chr1:155779761-155779762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56158551	chr1:155779774-155779775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563059463	chr1:155779782-155779783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376035223	chr1:155779784-155779785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545738355	chr1:155779788-155779789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547936898	chr1:155779790-155779791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571725200	chr1:155779799-155779800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539699850	chr1:155779832-155779833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112359646	chr1:155779852-155779853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569756982	chr1:155779873-155779874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28460554	chr1:155779896-155779897	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs555467218	chr1:155779902-155779903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372126626	chr1:155779938-155779939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574062387	chr1:155779979-155779980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185580107	chr1:155780019-155780020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113019059	chr1:155780032-155780033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189088891	chr1:155780079-155780080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192000136	chr1:155780148-155780149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564362121	chr1:155780172-155780173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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	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
Ewing''s sarcoma	21437220	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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Dihydropyrimidine dehydrogenase deficiency	18421352	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155715400-155789200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:155716000-155793400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:155716600-155781800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:155717400-155795800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:155720200-155798200	Strong transcription	Fetal Thymus	thymus
6	chr1:155720200-155803600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:155720400-155796800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:155732200-155789200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:155746400-155791400	Weak transcription	Stomach Mucosa	stomach
10	chr1:155747600-155787200	Weak transcription	Esophagus	oesophagus
11	chr1:155747800-155785600	Weak transcription	Fetal Brain Male	brain
12	chr1:155747800-155791200	Weak transcription	Fetal Heart	heart
13	chr1:155748000-155789400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:155762200-155798000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:155762600-155779200	Strong transcription	Fetal Stomach	stomach
16	chr1:155762600-155785000	Strong transcription	Fetal Intestine Small	intestine
17	chr1:155762800-155779200	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:155765200-155803800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr1:155765200-155813200	Weak transcription	Psoas Muscle	Psoas
20	chr1:155766200-155782800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:155767200-155779200	Strong transcription	Fetal Muscle Trunk	muscle
22	chr1:155769800-155783400	Weak transcription	NHLF	lung
23	chr1:155771200-155783000	Weak transcription	A549	lung
24	chr1:155771400-155798400	Strong transcription	Fetal Muscle Leg	muscle
25	chr1:155771600-155798200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:155772000-155798000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:155772200-155779200	Strong transcription	NH-A	brain
28	chr1:155772400-155785800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:155772600-155779200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:155773800-155781200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr1:155773800-155787200	Weak transcription	Brain Substantia Nigra	brain
32	chr1:155774400-155787000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:155775000-155780600	Weak transcription	Colon Smooth Muscle	Colon
34	chr1:155775000-155782000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr1:155775000-155782000	Weak transcription	HMEC	breast
36	chr1:155775000-155782600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr1:155775000-155782800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr1:155775000-155782800	Weak transcription	Brain Angular Gyrus	brain
39	chr1:155775000-155782800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr1:155775000-155783000	Weak transcription	Colonic Mucosa	Colon
41	chr1:155775000-155795600	Weak transcription	Small Intestine	intestine
42	chr1:155775200-155782600	Weak transcription	HUVEC	blood vessel
43	chr1:155775400-155783000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr1:155776000-155779200	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr1:155776000-155782400	Weak transcription	Ovary	ovary
46	chr1:155776000-155796600	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr1:155776800-155780200	Weak transcription	Osteobl	bone
48	chr1:155776800-155782600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr1:155776800-155782800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr1:155777000-155780400	Weak transcription	Primary neutrophils fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links