Variant report

Variant	esv16709
Chromosome Location	chr8:1787196-1790527
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	chr8:1784051..1785744-chr8:1790168..1791878,2	MCF-7	breast:

Extended variants
information (count: 265 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552815678	chr8:1787198-1787199	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs565735143	chr8:1787205-1787206	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs189921672	chr8:1787206-1787207	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs11776857	chr8:1787222-1787223	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs369177349	chr8:1787277-1787278	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs78247314	chr8:1787283-1787284	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs182002907	chr8:1787286-1787287	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs75252821	chr8:1787311-1787312	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs536676583	chr8:1787324-1787325	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs557219399	chr8:1787350-1787351	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs576769598	chr8:1787363-1787364	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs539205882	chr8:1787364-1787365	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs56127658	chr8:1787376-1787377	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs11991270	chr8:1787381-1787382	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs552750860	chr8:1787403-1787404	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs572179392	chr8:1787404-1787405	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs374932554	chr8:1787419-1787420	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs541527650	chr8:1787423-1787424	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs561257375	chr8:1787426-1787427	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs377570071	chr8:1787442-1787443	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs111709184	chr8:1787445-1787446	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs202142034	chr8:1787460-1787461	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs377443521	chr8:1787462-1787463	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs371124667	chr8:1787467-1787468	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs543496712	chr8:1787495-1787496	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs375785736	chr8:1787505-1787506	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs563969144	chr8:1787514-1787515	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs377667171	chr8:1787515-1787516	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs532860209	chr8:1787517-1787518	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs546394689	chr8:1787548-1787549	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs560007700	chr8:1787554-1787555	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs370878505	chr8:1787598-1787599	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs548246662	chr8:1787603-1787604	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111162132	chr8:1787635-1787636	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374806253	chr8:1787652-1787653	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11992836	chr8:1787658-1787659	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs371935144	chr8:1787674-1787675	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530519110	chr8:1787676-1787677	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550314136	chr8:1787723-1787724	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373670758	chr8:1787733-1787734	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111162133	chr8:1787769-1787770	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368760400	chr8:1787771-1787772	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111162134	chr8:1787778-1787779	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111162135	chr8:1787795-1787796	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs202095067	chr8:1787843-1787844	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146396245	chr8:1787844-1787845	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370299885	chr8:1787846-1787847	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372163268	chr8:1787861-1787862	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375336836	chr8:1787877-1787878	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369580765	chr8:1787893-1787894	Weak transcription Genic enhancers	n/a	n/a	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:220 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1772800-1789400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr8:1772800-1790800	Weak transcription	HSMMtube	muscle
3	chr8:1772800-1791400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:1774000-1789200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:1774000-1845000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:1774600-1790200	Weak transcription	Colonic Mucosa	Colon
7	chr8:1775000-1788800	Weak transcription	Fetal Brain Female	brain
8	chr8:1775000-1790400	Weak transcription	Brain Germinal Matrix	brain
9	chr8:1775200-1792400	Weak transcription	Fetal Lung	lung
10	chr8:1778400-1790400	Weak transcription	Osteobl	bone
11	chr8:1778600-1790400	Weak transcription	HUVEC	blood vessel
12	chr8:1779200-1788800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:1779200-1790400	Weak transcription	NH-A	brain
14	chr8:1780200-1790800	Weak transcription	HSMM	muscle
15	chr8:1780400-1790400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr8:1780400-1790400	Weak transcription	NHEK	skin
17	chr8:1780600-1790400	Weak transcription	Esophagus	oesophagus
18	chr8:1780600-1792600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:1780600-1808800	Weak transcription	Hela-S3	cervix
20	chr8:1782000-1787200	Strong transcription	Fetal Stomach	stomach
21	chr8:1782200-1787200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:1783000-1788800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr8:1783400-1791600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr8:1783600-1787600	Enhancers	Brain Substantia Nigra	brain
25	chr8:1783600-1792200	Weak transcription	Fetal Intestine Small	intestine
26	chr8:1783800-1787200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:1783800-1787600	Enhancers	Brain Hippocampus Middle	brain
28	chr8:1783800-1790200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:1783800-1792200	Weak transcription	Placenta	Placenta
30	chr8:1784000-1787400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:1784000-1787800	Enhancers	Brain Cingulate Gyrus	brain
32	chr8:1784000-1788600	Weak transcription	Gastric	stomach
33	chr8:1784000-1788800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr8:1784000-1788800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr8:1784000-1789200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr8:1784000-1789200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:1784000-1789600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:1784000-1789600	Weak transcription	Adipose Nuclei	Adipose
39	chr8:1784000-1790400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:1784000-1790400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr8:1784000-1791000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr8:1784000-1791600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr8:1784000-1792000	Weak transcription	A549	lung
44	chr8:1784200-1791000	Weak transcription	NHLF	lung
45	chr8:1784200-1792400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:1784600-1790600	Weak transcription	Aorta	Aorta
47	chr8:1784800-1788600	Weak transcription	Pancreas	Pancrea
48	chr8:1784800-1788800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:1784800-1789000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr8:1784800-1791200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links