Variant report

Variant	nsv1022344
Chromosome Location	chr8:19270143-19324083
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:49)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:19279205..19280725-chr8:19282957..19284991,2	MCF-7	breast:
2	chr8:19270684..19272209-chr8:19293984..19296065,2	MCF-7	breast:
3	chr8:19283299..19285964-chr8:19292652..19294945,2	MCF-7	breast:
4	chr8:19265111..19268034-chr8:19269778..19273718,6	MCF-7	breast:
5	chr8:19271313..19275229-chr8:19613615..19615862,4	MCF-7	breast:
6	chr8:19271639..19274356-chr8:19296369..19298218,2	MCF-7	breast:
7	chr8:19266166..19268628-chr8:19272265..19273861,2	MCF-7	breast:
8	chr8:19271639..19274356-chr8:19296369..19298218,2	MCF-7	breast:
9	chr8:19244439..19246344-chr8:19276946..19278452,2	MCF-7	breast:
10	chr8:19277783..19279475-chr8:19295550..19297142,2	MCF-7	breast:
11	chr8:19277716..19280530-chr8:19280967..19283858,2	MCF-7	breast:
12	chr8:19275542..19277855-chr8:19280462..19282722,2	K562	blood:
13	chr8:19288913..19291060-chr8:19294444..19296312,2	MCF-7	breast:
14	chr8:19275219..19277107-chr8:19294224..19297306,3	MCF-7	breast:
15	chr8:19277635..19279188-chr8:19612998..19615550,2	MCF-7	breast:
16	chr8:19275354..19278233-chr8:19280534..19283813,3	MCF-7	breast:
17	chr8:19275219..19277107-chr8:19294224..19297306,3	MCF-7	breast:
18	chr8:19277038..19281251-chr8:19291957..19296139,6	MCF-7	breast:
19	chr8:19280974..19282712-chr8:19296114..19297888,2	MCF-7	breast:
20	chr8:19279133..19281862-chr8:19291415..19293117,2	MCF-7	breast:
21	chr8:19277716..19280530-chr8:19280967..19283858,2	MCF-7	breast:
22	chr8:19277703..19280587-chr8:19673604..19675691,2	MCF-7	breast:
23	chr8:19279133..19281862-chr8:19291415..19293117,2	MCF-7	breast:
24	chr8:19280974..19282712-chr8:19296114..19297888,2	MCF-7	breast:
25	chr8:19263579..19266063-chr8:19277722..19281368,3	MCF-7	breast:
26	chr8:19272075..19274991-chr8:19275738..19277539,3	MCF-7	breast:
27	chr8:19277783..19279475-chr8:19295550..19297142,2	MCF-7	breast:
28	chr8:19245390..19247073-chr8:19271565..19273182,2	MCF-7	breast:
29	chr8:19288913..19291060-chr8:19294444..19296312,2	MCF-7	breast:
30	chr8:19275542..19277855-chr8:19280462..19282722,2	K562	blood:
31	chr8:19242205..19244006-chr8:19278018..19280967,2	MCF-7	breast:
32	chr8:19291426..19297066-chr8:19613560..19616648,5	MCF-7	breast:
33	chr8:19316428..19318779-chr8:19615686..19617194,2	MCF-7	breast:
34	chr8:19275354..19278233-chr8:19280534..19283813,3	MCF-7	breast:
35	chr8:19294799..19297740-chr8:19300863..19302648,2	MCF-7	breast:
36	chr8:19225560..19227761-chr8:19271454..19274357,2	K562	blood:
37	chr8:19270684..19272209-chr8:19293984..19296065,2	MCF-7	breast:
38	chr8:19272075..19274991-chr8:19275738..19277539,3	MCF-7	breast:
39	chr8:19266168..19267872-chr8:19269454..19271041,2	MCF-7	breast:
40	chr8:19250624..19252253-chr8:19278071..19280597,2	MCF-7	breast:
41	chr8:19293307..19294903-chr8:19674253..19676583,2	MCF-7	breast:
42	chr8:19283299..19285964-chr8:19292652..19294945,2	MCF-7	breast:
43	chr8:19278872..19281688-chr8:19614023..19616440,2	MCF-7	breast:
44	chr8:19265734..19267679-chr8:19315325..19317057,2	MCF-7	breast:
45	chr14:67563985..67564899-chr8:19302890..19303432,2	MCF-7	breast:
46	chr8:19294799..19297740-chr8:19300863..19302648,2	MCF-7	breast:
47	chr8:19277038..19281251-chr8:19291957..19296139,6	MCF-7	breast:
48	chr8:19279205..19280725-chr8:19282957..19284991,2	MCF-7	breast:
49	chr8:19243844..19246567-chr8:19293989..19296089,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147408	chromatin interactions
ENSG00000104613	chromatin interactions

Extended variants
information (count: 3043 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:3043 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4412390	chr8:19270143-19270144	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs567501837	chr8:19270155-19270156	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs536671560	chr8:19270160-19270161	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs4537313	chr8:19270183-19270184	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs569949718	chr8:19270188-19270189	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs538963892	chr8:19270194-19270195	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs145286383	chr8:19270288-19270289	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558783354	chr8:19270291-19270292	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372299288	chr8:19270292-19270293	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368926622	chr8:19270299-19270300	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565922838	chr8:19270339-19270340	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145332344	chr8:19270341-19270342	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554654724	chr8:19270380-19270381	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574326426	chr8:19270399-19270400	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543422928	chr8:19270420-19270421	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115975459	chr8:19270436-19270437	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372631902	chr8:19270476-19270477	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576323144	chr8:19270516-19270517	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545332773	chr8:19270542-19270543	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565092964	chr8:19270548-19270549	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs151101601	chr8:19270595-19270596	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539278622	chr8:19270610-19270611	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541138033	chr8:19270622-19270623	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557812634	chr8:19270623-19270624	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141017496	chr8:19270670-19270671	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530168704	chr8:19270679-19270680	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550127873	chr8:19270690-19270691	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570112603	chr8:19270699-19270700	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532438667	chr8:19270705-19270706	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552508734	chr8:19270761-19270762	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576143014	chr8:19270768-19270769	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534842700	chr8:19270776-19270777	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369363332	chr8:19270820-19270821	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568133017	chr8:19270827-19270828	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12679671	chr8:19270831-19270832	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs111610270	chr8:19270838-19270839	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556527958	chr8:19270875-19270876	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576436674	chr8:19270876-19270877	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150273096	chr8:19270928-19270929	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181753919	chr8:19270934-19270935	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572513448	chr8:19270951-19270952	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541597085	chr8:19270952-19270953	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561349839	chr8:19270970-19270971	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375034341	chr8:19270990-19270991	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530209515	chr8:19270999-19271000	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185449815	chr8:19271031-19271032	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12679712	chr8:19271032-19271033	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs532556192	chr8:19271039-19271040	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372500808	chr8:19271046-19271047	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138924867	chr8:19271065-19271066	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Prostate cancer	22341455	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:1084 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19254000-19275000	Weak transcription	Gastric	stomach
2	chr8:19261800-19279600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:19263800-19272600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:19266200-19270400	Enhancers	Dnd41	blood
5	chr8:19266600-19275200	Weak transcription	Right Ventricle	heart
6	chr8:19266600-19275400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr8:19266600-19283800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr8:19266800-19270800	Weak transcription	Hela-S3	cervix
9	chr8:19266800-19271200	Weak transcription	Fetal Intestine Small	intestine
10	chr8:19266800-19271200	Weak transcription	Fetal Kidney	kidney
11	chr8:19266800-19275200	Weak transcription	Spleen	Spleen
12	chr8:19267000-19271200	Weak transcription	Stomach Mucosa	stomach
13	chr8:19267000-19271400	Weak transcription	Right Atrium	heart
14	chr8:19267000-19271400	Weak transcription	NHLF	lung
15	chr8:19267000-19271600	Weak transcription	Liver	Liver
16	chr8:19267000-19271800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:19267000-19274800	Weak transcription	Left Ventricle	heart
18	chr8:19267000-19275000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr8:19267000-19275000	Weak transcription	Aorta	Aorta
20	chr8:19267000-19278400	Weak transcription	Esophagus	oesophagus
21	chr8:19267000-19279200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr8:19267200-19297000	Weak transcription	Brain Substantia Nigra	brain
23	chr8:19267400-19270200	Weak transcription	HepG2	liver
24	chr8:19267400-19271000	Weak transcription	Colon Smooth Muscle	Colon
25	chr8:19267400-19271000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr8:19267400-19271200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:19267400-19271200	Weak transcription	Ovary	ovary
28	chr8:19267400-19271200	Weak transcription	Pancreas	Pancrea
29	chr8:19267400-19271400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr8:19267400-19279400	Weak transcription	Adipose Nuclei	Adipose
31	chr8:19267400-19280800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr8:19267400-19281200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr8:19267400-19283600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr8:19267600-19281000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr8:19267800-19271200	Weak transcription	Osteobl	bone
36	chr8:19267800-19274800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr8:19267800-19281800	Weak transcription	Brain Anterior Caudate	brain
38	chr8:19267800-19295600	Weak transcription	Brain Hippocampus Middle	brain
39	chr8:19268000-19270400	Enhancers	Thymus	Thymus
40	chr8:19268000-19279400	Weak transcription	Fetal Muscle Leg	muscle
41	chr8:19268000-19283800	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr8:19268200-19271200	Strong transcription	Placenta	Placenta
43	chr8:19268200-19271400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr8:19268400-19270600	Strong transcription	A549	lung
45	chr8:19268400-19271200	Weak transcription	Fetal Lung	lung
46	chr8:19268600-19270400	Enhancers	Fetal Thymus	thymus
47	chr8:19268600-19270600	Enhancers	Brain Germinal Matrix	brain
48	chr8:19268800-19270200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
49	chr8:19268800-19270600	Enhancers	Primary T cells fromperipheralblood	blood
50	chr8:19268800-19271600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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