Variant report

Variant	esv3335891
Chromosome Location	chr8:19222684-19223078
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150799649	chr8:19222690-19222691	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560519212	chr8:19222705-19222706	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138065374	chr8:19222711-19222712	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546881293	chr8:19222724-19222725	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566693689	chr8:19222725-19222726	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562516840	chr8:19222732-19222733	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192194798	chr8:19222736-19222737	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115358579	chr8:19222738-19222739	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149462050	chr8:19222739-19222740	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537953451	chr8:19222757-19222758	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs17128311	chr8:19222788-19222789	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs574741972	chr8:19222849-19222850	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577572193	chr8:19222852-19222853	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs17128313	chr8:19222879-19222880	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs559988821	chr8:19222889-19222890	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143858085	chr8:19222896-19222897	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs56017906	chr8:19222897-19222898	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs561979759	chr8:19222917-19222918	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530879434	chr8:19222926-19222927	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185509231	chr8:19222969-19222970	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6999974	chr8:19222996-19222997	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190435874	chr8:19223002-19223003	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546722680	chr8:19223053-19223054	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Epilepsy	22083797	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17603634	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	18840272	CNVD
Breast cancer	19602461	CNVD
Osteosarcoma	19286668	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	19258508	CNVD
small cell lung cancer	20016488	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Gastric adenocarcinoma	19115996	CNVD
Colorectal cancer	19455253	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19173600-19254800	Weak transcription	Colonic Mucosa	Colon
2	chr8:19174000-19223600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr8:19186200-19229800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:19195600-19231200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:19206600-19223800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr8:19208400-19231200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:19211400-19224600	Strong transcription	A549	lung
8	chr8:19214400-19266200	Weak transcription	Aorta	Aorta
9	chr8:19215400-19245800	Weak transcription	Left Ventricle	heart
10	chr8:19215400-19247800	Weak transcription	Fetal Kidney	kidney
11	chr8:19216600-19223800	Weak transcription	Esophagus	oesophagus
12	chr8:19216600-19243800	Weak transcription	Pancreas	Pancrea
13	chr8:19217400-19230000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:19217600-19225800	Weak transcription	Fetal Lung	lung
15	chr8:19217800-19224800	Strong transcription	Duodenum Mucosa	Duodenum
16	chr8:19218600-19223800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:19218800-19225800	Strong transcription	Liver	Liver
18	chr8:19219000-19223000	Strong transcription	Adipose Nuclei	Adipose
19	chr8:19219200-19223600	Strong transcription	Fetal Intestine Small	intestine
20	chr8:19219400-19223400	Strong transcription	Gastric	stomach
21	chr8:19219400-19224400	Strong transcription	Fetal Intestine Large	intestine
22	chr8:19220000-19223000	Weak transcription	Hela-S3	cervix
23	chr8:19220000-19223200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:19220400-19224200	Strong transcription	Ovary	ovary
25	chr8:19220800-19224000	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr8:19221400-19223000	Strong transcription	NHDF-Ad	bronchial
27	chr8:19221400-19226400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:19221400-19226800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:19221600-19224000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:19221600-19243800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:19221800-19223000	Weak transcription	Fetal Muscle Leg	muscle
32	chr8:19221800-19225800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:19221800-19231000	Weak transcription	Lung	lung
34	chr8:19221800-19231200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:19221800-19231200	Weak transcription	Placenta	Placenta
36	chr8:19221800-19242600	Weak transcription	HMEC	breast
37	chr8:19221800-19242600	Weak transcription	NHEK	skin
38	chr8:19222000-19223200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr8:19222000-19223800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:19222000-19223800	Weak transcription	Fetal Stomach	stomach
41	chr8:19222000-19224200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:19222000-19229600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr8:19222000-19231000	Weak transcription	NHLF	lung
44	chr8:19222000-19231600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr8:19222000-19233000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:19222000-19243000	Weak transcription	Stomach Mucosa	stomach
47	chr8:19222400-19231200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:19222400-19233400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr8:19222600-19222800	Strong transcription	Osteobl	bone
50	chr8:19222600-19223600	Enhancers	HSMM	muscle

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