Variant report

Variant	esv12102
Chromosome Location	chr8:8334431-8348655
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:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:8336166..8336956-chr8:8365242..8366153,3	MCF-7	breast:
2	chr8:8336166..8336977-chr8:8365242..8366154,6	MCF-7	breast:
3	chr8:8317400..8319199-chr8:8344944..8347907,2	MCF-7	breast:
4	chr8:8346656..8348719-chr8:8355280..8357515,2	K562	blood:
5	chr8:8147966..8148515-chr8:8336160..8336710,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRAGMIN.1-8	chr8:8340447-8340532	NONHSAT124876
2	lnc-PRAGMIN.1-8	chr8:8344925-8345359	NONHSAT124876

No data

Variant related genes	Relation type
ENSG00000254153	chromatin interactions

Extended variants
information (count: 779 )
Associated
traits (count: 139 )

Variant overlapped rSNPs/rCNVs (count:779 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182701122	chr8:8334437-8334438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185991470	chr8:8334497-8334498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575504908	chr8:8334517-8334518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544134093	chr8:8334523-8334524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554848681	chr8:8334524-8334525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374761649	chr8:8334537-8334538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141869296	chr8:8334555-8334556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368852318	chr8:8334565-8334566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191365797	chr8:8334568-8334569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182646293	chr8:8334582-8334583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11781705	chr8:8334583-8334584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146361136	chr8:8334591-8334592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs117137265	chr8:8334598-8334599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74300856	chr8:8334626-8334627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187015939	chr8:8334662-8334663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148986444	chr8:8334670-8334671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200023596	chr8:8334671-8334672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112472256	chr8:8334680-8334681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375167999	chr8:8334682-8334683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200833759	chr8:8334684-8334685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34535075	chr8:8334691-8334692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201024032	chr8:8334692-8334693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs58668849	chr8:8334698-8334699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565187652	chr8:8334702-8334703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548647305	chr8:8334752-8334753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192168050	chr8:8334753-8334754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139002880	chr8:8334756-8334757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182938432	chr8:8334772-8334773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570627679	chr8:8334776-8334777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368163076	chr8:8334851-8334852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs199728329	chr8:8334926-8334927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540917707	chr8:8334929-8334930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373779076	chr8:8334939-8334940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200875122	chr8:8334942-8334943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77955944	chr8:8334975-8334976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561117446	chr8:8335006-8335007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529787521	chr8:8335014-8335015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188842371	chr8:8335020-8335021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535835352	chr8:8335082-8335083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142906994	chr8:8335088-8335089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147439784	chr8:8335141-8335142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371726808	chr8:8335156-8335157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2921035	chr8:8335177-8335178	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs74472280	chr8:8335181-8335182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116525861	chr8:8335184-8335185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2976890	chr8:8335210-8335211	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs139742520	chr8:8335228-8335229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12547099	chr8:8335230-8335231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs193239564	chr8:8335236-8335237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372161530	chr8:8335253-8335254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:139)

Disease	PMID	Source
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
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
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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8326600-8336000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:8327400-8340400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:8334600-8335400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:8334600-8335600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:8334600-8337000	Enhancers	HepG2	liver
6	chr8:8335000-8335200	Enhancers	Left Ventricle	heart
7	chr8:8335000-8335400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:8335200-8336200	Weak transcription	Left Ventricle	heart
9	chr8:8335200-8338800	Enhancers	Placenta	Placenta
10	chr8:8335600-8336600	Enhancers	Fetal Brain Male	brain
11	chr8:8336000-8336400	Enhancers	Right Ventricle	heart
12	chr8:8336000-8337000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:8336000-8337000	Enhancers	Pancreas	Pancrea
14	chr8:8336200-8336600	Enhancers	Gastric	stomach
15	chr8:8336200-8336800	Enhancers	Fetal Muscle Trunk	muscle
16	chr8:8336200-8336800	Enhancers	Left Ventricle	heart
17	chr8:8336200-8336800	Enhancers	Right Atrium	heart
18	chr8:8336600-8336800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:8336600-8336800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:8336600-8336800	Enhancers	A549	lung
21	chr8:8336600-8337400	Enhancers	Stomach Mucosa	stomach
22	chr8:8336800-8340000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:8336800-8341200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:8336800-8345000	Weak transcription	Right Atrium	heart
25	chr8:8337000-8338200	Weak transcription	HepG2	liver
26	chr8:8337000-8338400	Weak transcription	A549	lung
27	chr8:8337000-8341000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:8337000-8341000	Weak transcription	Pancreas	Pancrea
29	chr8:8337200-8337400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:8337400-8341000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:8338200-8338800	Enhancers	Fetal Kidney	kidney
32	chr8:8338200-8338800	Enhancers	HepG2	liver
33	chr8:8338400-8338800	Enhancers	A549	lung
34	chr8:8338800-8339000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:8338800-8340200	Weak transcription	A549	lung
36	chr8:8338800-8340200	Weak transcription	HepG2	liver
37	chr8:8338800-8341000	Weak transcription	Placenta	Placenta
38	chr8:8339600-8340200	Enhancers	Hela-S3	cervix
39	chr8:8339600-8343000	Enhancers	Dnd41	blood
40	chr8:8339800-8341800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:8340000-8342800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:8340200-8340400	Active TSS	A549	lung
43	chr8:8340200-8340600	Weak transcription	Hela-S3	cervix
44	chr8:8340200-8342000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:8340200-8342000	Enhancers	Fetal Thymus	thymus
46	chr8:8340200-8342000	Enhancers	HepG2	liver
47	chr8:8340400-8340600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:8340400-8340600	Flanking Active TSS	A549	lung
49	chr8:8340400-8340600	Enhancers	NHEK	skin
50	chr8:8340400-8341200	Enhancers	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links