Variant report

Variant	esv3350100
Chromosome Location	chr12:31109835-31111833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:31108040..31110070-chr12:31110418..31112146,2	K562	blood:
2	chr12:31108040..31110070-chr12:31110418..31112146,2	K562	blood:
3	chr12:31105834..31108432-chr12:31108761..31111175,2	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74891037	chr12:31109862-31109863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369962014	chr12:31109868-31109869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538361721	chr12:31109890-31109891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77986552	chr12:31109896-31109897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565581522	chr12:31109920-31109921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536238952	chr12:31109962-31109963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555665996	chr12:31109966-31109967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573977472	chr12:31110000-31110001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs386761703	chr12:31110054-31110055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs56267302	chr12:31110056-31110057	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs565668594	chr12:31110082-31110083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561912207	chr12:31110163-31110164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573544204	chr12:31110173-31110174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs56296744	chr12:31110174-31110175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201649480	chr12:31110175-31110176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184009121	chr12:31110209-31110210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146080485	chr12:31110236-31110237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114571502	chr12:31110269-31110270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560624648	chr12:31110298-31110299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527713915	chr12:31110300-31110301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188646500	chr12:31110303-31110304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561232419	chr12:31110341-31110342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181085222	chr12:31110343-31110344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76988795	chr12:31110380-31110381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575894511	chr12:31110413-31110414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562394646	chr12:31110428-31110429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142091435	chr12:31110448-31110449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565743925	chr12:31110459-31110460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79258210	chr12:31110475-31110476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73088054	chr12:31110494-31110495	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs146241043	chr12:31110530-31110531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184240902	chr12:31110547-31110548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111443502	chr12:31110564-31110565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs60180017	chr12:31110565-31110566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547126238	chr12:31110572-31110573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368827205	chr12:31110577-31110578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs386761704	chr12:31110581-31110582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12311975	chr12:31110585-31110586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs202059786	chr12:31110638-31110639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367712099	chr12:31110641-31110642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs55689262	chr12:31110642-31110643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs56051309	chr12:31110646-31110647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112633231	chr12:31110662-31110663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190783804	chr12:31110663-31110664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71440923	chr12:31110671-31110672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs60224268	chr12:31110675-31110676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs58313930	chr12:31110683-31110684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs60322348	chr12:31110699-31110700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569597430	chr12:31110707-31110708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530826540	chr12:31110723-31110724	Weak transcription Strong 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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31099600-31116800	Weak transcription	Fetal Stomach	stomach
2	chr12:31100200-31111200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:31100800-31111200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:31105800-31112200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:31105800-31116000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:31106000-31111600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:31106000-31120000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:31107200-31110000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr12:31107600-31111200	Weak transcription	Right Ventricle	heart
10	chr12:31107800-31121400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr12:31108000-31130600	Weak transcription	Fetal Brain Female	brain
12	chr12:31108800-31117400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:31109000-31117000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:31111200-31111400	Enhancers	Rectal Smooth Muscle	rectum
15	chr12:31111200-31111600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:31111200-31111800	Enhancers	Right Ventricle	heart
17	chr12:31111200-31112000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:31111200-31112400	Enhancers	Lung	lung
19	chr12:31111600-31116200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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