Variant report

Variant	nsv522774
Chromosome Location	chr8:19245719-19247922
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:19245003..19248464-chr8:19252162..19256737,5	MCF-7	breast:
2	chr8:19245390..19247073-chr8:19271565..19273182,2	MCF-7	breast:
3	chr8:19243844..19246567-chr8:19293989..19296089,2	MCF-7	breast:
4	chr8:19244439..19246344-chr8:19276946..19278452,2	MCF-7	breast:
5	chr8:19246910..19249076-chr8:19674040..19675600,2	MCF-7	breast:
6	chr8:19243547..19245483-chr8:19247130..19249437,2	MCF-7	breast:
7	chr8:19229576..19232119-chr8:19244175..19246874,2	MCF-7	breast:
8	chr8:19229040..19231185-chr8:19244453..19248477,4	MCF-7	breast:
9	chr8:19246919..19248949-chr8:19621719..19623568,2	MCF-7	breast:
10	chr8:19246942..19249013-chr8:19251445..19254016,2	K562	blood:
11	chr8:19246281..19248749-chr8:19673306..19676038,2	MCF-7	breast:
12	chr8:19245853..19248424-chr8:19264040..19266305,2	MCF-7	breast:
13	chr8:19243158..19244693-chr8:19247336..19250088,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000104613	chromatin interactions

Extended variants
information (count: 125 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12335103	chr8:19245719-19245720	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549798633	chr8:19245722-19245723	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375378690	chr8:19245770-19245771	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139013899	chr8:19245772-19245773	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553177749	chr8:19245776-19245777	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78098336	chr8:19245782-19245783	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149387097	chr8:19245792-19245793	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185533567	chr8:19245801-19245802	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79615626	chr8:19245807-19245808	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545318149	chr8:19245814-19245815	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555866831	chr8:19245825-19245826	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373405879	chr8:19245860-19245861	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144729208	chr8:19245869-19245870	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544717215	chr8:19245871-19245872	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564759168	chr8:19245877-19245878	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566271335	chr8:19245960-19245961	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112580924	chr8:19245975-19245976	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533457108	chr8:19245982-19245983	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540799737	chr8:19245996-19245997	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539684180	chr8:19246004-19246005	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560655754	chr8:19246039-19246040	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529541841	chr8:19246050-19246051	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549496876	chr8:19246051-19246052	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189293527	chr8:19246056-19246057	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531691448	chr8:19246065-19246066	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182024009	chr8:19246068-19246069	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184985528	chr8:19246088-19246089	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533850989	chr8:19246125-19246126	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189838817	chr8:19246134-19246135	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567102024	chr8:19246241-19246242	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs115581472	chr8:19246256-19246257	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs148677266	chr8:19246257-19246258	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs36119609	chr8:19246258-19246259	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs35131624	chr8:19246273-19246274	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs377576512	chr8:19246306-19246307	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs556218772	chr8:19246311-19246312	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs574741905	chr8:19246360-19246361	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs75160640	chr8:19246367-19246368	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs544940638	chr8:19246431-19246432	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs141233894	chr8:19246448-19246449	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs578169167	chr8:19246457-19246458	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs17387732	chr8:19246471-19246472	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs59842230	chr8:19246488-19246489	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs150801750	chr8:19246494-19246495	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs543255282	chr8:19246498-19246499	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs562954758	chr8:19246517-19246518	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs181136893	chr8:19246524-19246525	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs375871454	chr8:19246554-19246555	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs571536145	chr8:19246562-19246563	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs570816066	chr8:19246585-19246586	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	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:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19173600-19254800	Weak transcription	Colonic Mucosa	Colon
2	chr8:19214400-19266200	Weak transcription	Aorta	Aorta
3	chr8:19215400-19245800	Weak transcription	Left Ventricle	heart
4	chr8:19215400-19247800	Weak transcription	Fetal Kidney	kidney
5	chr8:19227600-19246400	Weak transcription	Fetal Heart	heart
6	chr8:19230000-19248400	Weak transcription	Spleen	Spleen
7	chr8:19230000-19248600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:19233400-19266200	Weak transcription	Brain Anterior Caudate	brain
9	chr8:19234000-19248800	Weak transcription	Lung	lung
10	chr8:19234000-19251600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:19238400-19263200	Weak transcription	Right Ventricle	heart
12	chr8:19239800-19251800	Weak transcription	Fetal Lung	lung
13	chr8:19241200-19265800	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr8:19241600-19251800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr8:19242000-19247600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:19242200-19247200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:19242400-19247600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:19242600-19247200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr8:19243000-19249600	Strong transcription	HepG2	liver
20	chr8:19243800-19245800	Weak transcription	Brain Substantia Nigra	brain
21	chr8:19243800-19246200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr8:19243800-19246200	Strong transcription	A549	lung
23	chr8:19243800-19246400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:19243800-19249000	Enhancers	Pancreas	Pancrea
25	chr8:19243800-19257400	Weak transcription	Brain Hippocampus Middle	brain
26	chr8:19243800-19263200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr8:19244000-19245800	Weak transcription	Fetal Intestine Small	intestine
28	chr8:19244000-19246000	Weak transcription	Primary T cells from cord blood	blood
29	chr8:19244000-19246400	Strong transcription	Duodenum Mucosa	Duodenum
30	chr8:19244000-19246400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr8:19244000-19248000	Weak transcription	Small Intestine	intestine
32	chr8:19244000-19248600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:19244000-19248600	Weak transcription	HSMMtube	muscle
34	chr8:19244000-19248800	Weak transcription	Fetal Brain Female	brain
35	chr8:19244000-19250600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr8:19244000-19256400	Weak transcription	Thymus	Thymus
37	chr8:19244200-19245800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr8:19244200-19246000	Weak transcription	NH-A	brain
39	chr8:19244200-19246200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr8:19244200-19246400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:19244200-19246400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:19244200-19247200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:19244200-19247400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:19244200-19247400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:19244200-19247800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:19244200-19247800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:19244200-19248000	Weak transcription	Fetal Brain Male	brain
48	chr8:19244200-19249800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr8:19244200-19251600	Weak transcription	Esophagus	oesophagus
50	chr8:19244200-19252200	Weak transcription	Primary hematopoietic stem cells	blood

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