Variant report

Variant	esv3495818
Chromosome Location	chr12:31112685-31115363
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:31112508..31114318-chr12:31114721..31117661,2	K562	blood:
2	chr12:31112508..31114318-chr12:31114721..31117661,2	K562	blood:
3	chr12:31113324..31114881-chr12:31120140..31121725,2	K562	blood:
4	chr12:31114199..31115183-chr12:31138028..31138949,2	MCF-7	breast:

Extended variants
information (count: 112 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199541805	chr12:31112730-31112731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs60287939	chr12:31112731-31112732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548119276	chr12:31112737-31112738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563279451	chr12:31112742-31112743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375649337	chr12:31112781-31112782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368380353	chr12:31112807-31112808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12305862	chr12:31112809-31112810	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs548813691	chr12:31112819-31112820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570231744	chr12:31112906-31112907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537553494	chr12:31112925-31112926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558741515	chr12:31112934-31112935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570864746	chr12:31112998-31112999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs57651763	chr12:31113017-31113018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs552876104	chr12:31113028-31113029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374952621	chr12:31113053-31113054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114133381	chr12:31113064-31113065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34151216	chr12:31113073-31113074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548017884	chr12:31113081-31113082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12825404	chr12:31113085-31113086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374419899	chr12:31113090-31113091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112519607	chr12:31113096-31113097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184444629	chr12:31113111-31113112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188443873	chr12:31113113-31113114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575056209	chr12:31113163-31113164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11051186	chr12:31113245-31113246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76155724	chr12:31113251-31113252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564026025	chr12:31113263-31113264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142025273	chr12:31113269-31113270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539834044	chr12:31113392-31113393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561630530	chr12:31113399-31113400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7980214	chr12:31113401-31113402	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs1035285	chr12:31113464-31113465	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs538203096	chr12:31113480-31113481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563880042	chr12:31113485-31113486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192669760	chr12:31113499-31113500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552685500	chr12:31113513-31113514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144987539	chr12:31113524-31113525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79798965	chr12:31113550-31113551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546612884	chr12:31113558-31113559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568207625	chr12:31113570-31113571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566311202	chr12:31113573-31113574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184502279	chr12:31113590-31113591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535933546	chr12:31113591-31113592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4931392	chr12:31113611-31113612	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs57954922	chr12:31113614-31113615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189073011	chr12:31113620-31113621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569212832	chr12:31113667-31113668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557870422	chr12:31113696-31113697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527406495	chr12:31113699-31113700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192575482	chr12:31113755-31113756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Follicular lymphoma	18703704	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31099600-31116800	Weak transcription	Fetal Stomach	stomach
2	chr12:31105800-31116000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:31106000-31120000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:31107800-31121400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:31108000-31130600	Weak transcription	Fetal Brain Female	brain
6	chr12:31108800-31117400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:31109000-31117000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:31111600-31116200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:31112000-31115800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:31112200-31113000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:31112200-31113000	Enhancers	Esophagus	oesophagus
12	chr12:31112400-31123200	Weak transcription	Lung	lung
13	chr12:31112400-31126000	Weak transcription	Gastric	stomach
14	chr12:31113000-31116600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:31113200-31113400	Enhancers	Spleen	Spleen
16	chr12:31113400-31123000	Weak transcription	Spleen	Spleen
17	chr12:31114800-31118200	Weak transcription	Brain Germinal Matrix	brain

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