Variant report

Variant	esv3405184
Chromosome Location	chr8:1778095-1780893
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:1703592..1705221-chr8:1778659..1781628,2	MCF-7	breast:
2	chr8:1771136..1772958-chr8:1777807..1779958,2	K562	blood:
3	chr8:1731431..1734296-chr8:1777100..1779564,2	MCF-7	breast:
4	chr8:1770343..1774803-chr8:1776185..1779512,9	MCF-7	breast:
5	chr8:1778222..1780570-chr8:1782075..1784994,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104728	chromatin interactions
ENSG00000182372	chromatin interactions

Extended variants
information (count: 222 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:222 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542796955	chr8:1778095-1778096	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs562758049	chr8:1778105-1778106	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs531278100	chr8:1778132-1778133	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs544706670	chr8:1778142-1778143	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs564687444	chr8:1778155-1778156	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs78406831	chr8:1778161-1778162	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs543995844	chr8:1778168-1778169	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs114807465	chr8:1778169-1778170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs28712194	chr8:1778193-1778194	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs530053996	chr8:1778195-1778196	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs549971789	chr8:1778236-1778237	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs576939696	chr8:1778237-1778238	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs569866568	chr8:1778244-1778245	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs386720685	chr8:1778353-1778354	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs188510927	chr8:1778354-1778355	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs571695251	chr8:1778372-1778373	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs75544732	chr8:1778390-1778391	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs11267178	chr8:1778403-1778404	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs553913081	chr8:1778426-1778427	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs542175105	chr8:1778428-1778429	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs143903358	chr8:1778429-1778430	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs574239498	chr8:1778433-1778434	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs542936114	chr8:1778438-1778439	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs556293227	chr8:1778459-1778460	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs530097100	chr8:1778493-1778494	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs576239952	chr8:1778529-1778530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs371536315	chr8:1778535-1778536	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs564991714	chr8:1778570-1778571	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs527424585	chr8:1778624-1778625	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs573795642	chr8:1778633-1778634	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs373661875	chr8:1778645-1778646	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs529967065	chr8:1778679-1778680	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs192156166	chr8:1778688-1778689	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs9802017	chr8:1778697-1778698	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs532342146	chr8:1778711-1778712	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs563604254	chr8:1778716-1778717	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs184414599	chr8:1778718-1778719	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs530676982	chr8:1778725-1778726	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs73672971	chr8:1778731-1778732	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs554107113	chr8:1778755-1778756	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs561720007	chr8:1778763-1778764	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs61043846	chr8:1778768-1778769	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs117163246	chr8:1778779-1778780	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs528226774	chr8:1778780-1778781	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs546705485	chr8:1778793-1778794	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs556431722	chr8:1778797-1778798	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs568002364	chr8:1778800-1778801	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs372049942	chr8:1778806-1778807	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs538828496	chr8:1778807-1778808	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs544206812	chr8:1778817-1778818	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	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
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	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
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Ovarian cancer	22355333	CNVD
Tetralogy of Fallot	22912587	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:228 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1772800-1780000	Weak transcription	Hela-S3	cervix
2	chr8:1772800-1789400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr8:1772800-1790800	Weak transcription	HSMMtube	muscle
4	chr8:1772800-1791400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:1773000-1778200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:1773800-1780400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:1773800-1780800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:1774000-1781600	Weak transcription	Fetal Intestine Small	intestine
9	chr8:1774000-1789200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr8:1774000-1845000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:1774600-1790200	Weak transcription	Colonic Mucosa	Colon
12	chr8:1774800-1780400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:1774800-1783400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:1774800-1786000	Weak transcription	NHDF-Ad	bronchial
15	chr8:1775000-1782200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:1775000-1782400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:1775000-1788800	Weak transcription	Fetal Brain Female	brain
18	chr8:1775000-1790400	Weak transcription	Brain Germinal Matrix	brain
19	chr8:1775200-1792400	Weak transcription	Fetal Lung	lung
20	chr8:1775400-1778200	Weak transcription	Brain Substantia Nigra	brain
21	chr8:1775400-1779800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:1775400-1780400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr8:1775400-1782000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:1775400-1782200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:1775800-1778400	Genic enhancers	HUES64 Cell Line	embryonic stem cell
26	chr8:1775800-1778400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr8:1776000-1778600	Enhancers	HUVEC	blood vessel
28	chr8:1776200-1778400	Enhancers	Ovary	ovary
29	chr8:1776200-1779400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:1776400-1779000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr8:1776600-1779000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr8:1777000-1778400	Enhancers	Adipose Nuclei	Adipose
33	chr8:1777000-1780000	Strong transcription	Fetal Stomach	stomach
34	chr8:1777200-1778200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:1777200-1778400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr8:1777200-1778600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:1777200-1778600	Enhancers	Fetal Muscle Leg	muscle
38	chr8:1777200-1778600	Enhancers	Placenta Amnion	Placenta Amnion
39	chr8:1777200-1779000	Enhancers	Gastric	stomach
40	chr8:1777200-1779600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr8:1777200-1779800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:1777200-1780000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr8:1777200-1780600	Bivalent Enhancer	Placenta	Placenta
44	chr8:1777200-1781400	Enhancers	Spleen	Spleen
45	chr8:1777400-1778200	Enhancers	Brain Hippocampus Middle	brain
46	chr8:1777400-1778200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr8:1777400-1778200	Enhancers	Pancreas	Pancrea
48	chr8:1777400-1778400	Enhancers	Aorta	Aorta
49	chr8:1777400-1778400	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr8:1777400-1778400	Genic enhancers	NHLF	lung

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