Variant report

Variant	esv3409604
Chromosome Location	chr1:113955161-113958273
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113930034..113933840-chr1:113951963..113955483,3	K562	blood:
2	chr1:113951738..113953995-chr1:113957531..113959825,2	K562	blood:
3	chr1:113953158..113955943-chr1:113961137..113963670,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000081026	chromatin interactions

Extended variants
information (count: 114 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369490934	chr1:113955194-113955195	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs561424570	chr1:113955248-113955249	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs140149828	chr1:113955285-113955286	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs192310088	chr1:113955328-113955329	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs143700768	chr1:113955349-113955350	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs560473780	chr1:113955387-113955388	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs532463329	chr1:113955481-113955482	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs552469794	chr1:113955482-113955483	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs568872070	chr1:113955498-113955499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537804951	chr1:113955531-113955532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548018681	chr1:113955538-113955539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373414681	chr1:113955539-113955540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185144938	chr1:113955548-113955549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553168166	chr1:113955558-113955559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548911064	chr1:113955575-113955576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566444379	chr1:113955583-113955584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573074914	chr1:113955634-113955635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538950375	chr1:113955640-113955641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190043852	chr1:113955643-113955644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575590367	chr1:113955676-113955677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544591253	chr1:113955834-113955835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561253189	chr1:113955856-113955857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574860622	chr1:113955882-113955883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540333328	chr1:113955895-113955896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560410864	chr1:113955898-113955899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78798274	chr1:113955903-113955904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10776767	chr1:113955931-113955932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs10776768	chr1:113955932-113955933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs10776769	chr1:113955942-113955943	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs150356239	chr1:113955980-113955981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567930990	chr1:113956012-113956013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376546791	chr1:113956024-113956025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534747611	chr1:113956064-113956065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371028216	chr1:113956095-113956096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527406441	chr1:113956110-113956111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574301506	chr1:113956119-113956120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547044209	chr1:113956177-113956178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374440941	chr1:113956222-113956223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs180760173	chr1:113956240-113956241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538840116	chr1:113956317-113956318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558870525	chr1:113956320-113956321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369558018	chr1:113956346-113956347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569510988	chr1:113956356-113956357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138016655	chr1:113956359-113956360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149506158	chr1:113956385-113956386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541685761	chr1:113956407-113956408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540730642	chr1:113956409-113956410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554264797	chr1:113956423-113956424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577147550	chr1:113956438-113956439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200257704	chr1:113956445-113956446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113937600-113963400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:113940200-113987000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:113944600-113958200	Weak transcription	Small Intestine	intestine
4	chr1:113948000-113969800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:113949800-113972200	Weak transcription	Aorta	Aorta
6	chr1:113951200-113962200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:113952600-113955400	Weak transcription	Fetal Stomach	stomach
8	chr1:113953400-113957800	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:113953800-113960600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:113954000-113957600	Weak transcription	Liver	Liver
11	chr1:113957600-113958400	Enhancers	Liver	Liver
12	chr1:113957600-113958400	Enhancers	Brain Germinal Matrix	brain
13	chr1:113957600-113958400	Enhancers	A549	lung
14	chr1:113957800-113958400	Enhancers	Brain Cingulate Gyrus	brain
15	chr1:113957800-113958400	Enhancers	Brain Hippocampus Middle	brain
16	chr1:113957800-113958600	Enhancers	Colon Smooth Muscle	Colon
17	chr1:113958000-113958400	Enhancers	Adipose Nuclei	Adipose
18	chr1:113958000-113958400	Enhancers	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links