Variant report

Variant	esv3385066
Chromosome Location	chr3:191105986-191106367
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:190961402..190962676-chr3:191106356..191107443,7	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528148727	chr3:191106024-191106025	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114016363	chr3:191106037-191106038	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs383437	chr3:191106058-191106059	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs142408129	chr3:191106109-191106110	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76661967	chr3:191106153-191106154	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373772230	chr3:191106197-191106198	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570646475	chr3:191106213-191106214	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143907331	chr3:191106228-191106229	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115895138	chr3:191106244-191106245	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75200331	chr3:191106250-191106251	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568702	chr3:191106283-191106284	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs182617314	chr3:191106291-191106292	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs513632	chr3:191106317-191106318	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs578217059	chr3:191106329-191106330	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148609291	chr3:191106332-191106333	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557646258	chr3:191106345-191106346	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73185263	chr3:191106346-191106347	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs571373804	chr3:191106348-191106349	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Lung cancer	19547694	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Optic atrophy	21457585	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191071200-191114000	Weak transcription	Colonic Mucosa	Colon
2	chr3:191079400-191115800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:191079600-191116400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:191079600-191121200	Weak transcription	Gastric	stomach
5	chr3:191080200-191110200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr3:191080200-191118800	Weak transcription	Pancreas	Pancrea
7	chr3:191080600-191110400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr3:191087000-191115400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr3:191087800-191109200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:191088000-191109800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr3:191088600-191119600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:191093400-191119400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:191093400-191121400	Weak transcription	Esophagus	oesophagus
14	chr3:191094800-191114800	Weak transcription	A549	lung
15	chr3:191095000-191107600	Weak transcription	Fetal Intestine Small	intestine
16	chr3:191096000-191130200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:191096400-191109600	Weak transcription	Brain Angular Gyrus	brain
18	chr3:191096600-191114800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:191097200-191109200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:191098000-191111400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr3:191099400-191107000	Weak transcription	Brain Anterior Caudate	brain
22	chr3:191099400-191122000	Weak transcription	Fetal Brain Male	brain
23	chr3:191099600-191113800	Weak transcription	Brain Hippocampus Middle	brain
24	chr3:191099600-191114000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr3:191099600-191114600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr3:191099600-191120000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr3:191099800-191117600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr3:191100200-191106000	Weak transcription	Left Ventricle	heart
29	chr3:191100200-191106800	Weak transcription	Brain Germinal Matrix	brain
30	chr3:191100200-191107200	Weak transcription	Fetal Muscle Leg	muscle
31	chr3:191100200-191108200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr3:191100200-191108400	Weak transcription	Ovary	ovary
33	chr3:191100200-191119200	Weak transcription	Right Ventricle	heart
34	chr3:191100200-191119400	Weak transcription	Psoas Muscle	Psoas
35	chr3:191100200-191119600	Weak transcription	K562	blood
36	chr3:191100400-191107200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr3:191100400-191108000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr3:191100400-191114000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr3:191100400-191117400	Weak transcription	Fetal Stomach	stomach
40	chr3:191100400-191117400	Weak transcription	Lung	lung
41	chr3:191100400-191117800	Weak transcription	Small Intestine	intestine
42	chr3:191100400-191120000	Weak transcription	Spleen	Spleen
43	chr3:191100400-191121600	Weak transcription	Fetal Brain Female	brain
44	chr3:191100600-191107200	Weak transcription	Aorta	Aorta
45	chr3:191100600-191107400	Weak transcription	Colon Smooth Muscle	Colon
46	chr3:191100600-191109400	Weak transcription	Primary T cells from cord blood	blood
47	chr3:191100800-191115400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr3:191101000-191107400	Weak transcription	Placenta	Placenta
49	chr3:191101000-191108400	Weak transcription	NHLF	lung
50	chr3:191101000-191108800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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