Variant report

Variant	esv3394621
Chromosome Location	chr8:67386524-67387102
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	chr8:67385468..67387907-chr8:67392199..67395140,2	K562	blood:
2	chr8:67385031..67386596-chr8:67579677..67581320,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADHFE1-1	chr8:67387028-67387496	XLOC_006828
2	lnc-ADHFE1-1	chr8:67387028-67387240	XLOC_006828

Variant related genes	Relation type
ENSG00000213865	chromatin interactions
ENSG00000270024	chromatin interactions
ENSG00000253623	chromatin interactions
LCOR	miRNA target sites

Extended variants
information (count: 32 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572991593	chr8:67386557-67386558	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs566976364	chr8:67386573-67386574	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs372516968	chr8:67386581-67386582	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs577122540	chr8:67386585-67386586	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs544915684	chr8:67386597-67386598	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs376532318	chr8:67386622-67386623	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs35750897	chr8:67386705-67386706	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs558144332	chr8:67386716-67386717	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs572079073	chr8:67386733-67386734	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs373704065	chr8:67386735-67386736	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs73255676	chr8:67386741-67386742	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs373344093	chr8:67386757-67386758	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs531344950	chr8:67386760-67386761	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs369155364	chr8:67386774-67386775	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs181189865	chr8:67386789-67386790	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs114911077	chr8:67386811-67386812	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs147373839	chr8:67386833-67386834	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs74796205	chr8:67386869-67386870	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs184538488	chr8:67386888-67386889	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs528568002	chr8:67386934-67386935	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs189312550	chr8:67386958-67386959	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs73257635	chr8:67386967-67386968	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs112103953	chr8:67386977-67386978	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs111929693	chr8:67386981-67386982	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs111605573	chr8:67386994-67386995	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs539765347	chr8:67387009-67387010	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs200914507	chr8:67387016-67387017	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs558109464	chr8:67387035-67387036	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs571981116	chr8:67387047-67387048	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs541113109	chr8:67387073-67387074	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs554416333	chr8:67387098-67387099	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs73257637	chr8:67387101-67387102	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Salivary gland tumor	18059337	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67372800-67395200	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr8:67374800-67396800	Weak transcription	Pancreas	Pancrea
3	chr8:67376400-67390000	Weak transcription	Fetal Heart	heart
4	chr8:67377200-67389400	Weak transcription	Brain Substantia Nigra	brain
5	chr8:67380800-67405200	Weak transcription	Aorta	Aorta
6	chr8:67381000-67388200	Weak transcription	Adipose Nuclei	Adipose
7	chr8:67381800-67389400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:67384400-67395800	Weak transcription	Osteobl	bone
9	chr8:67384600-67389600	Weak transcription	Placenta	Placenta
10	chr8:67384600-67392200	Weak transcription	NHDF-Ad	bronchial
11	chr8:67384800-67387000	Enhancers	A549	lung
12	chr8:67384800-67387400	Enhancers	Liver	Liver
13	chr8:67384800-67389400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:67384800-67389400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:67384800-67389400	Weak transcription	NHLF	lung
16	chr8:67384800-67389600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:67384800-67389600	Weak transcription	Psoas Muscle	Psoas
18	chr8:67384800-67389800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:67384800-67389800	Weak transcription	HUVEC	blood vessel
20	chr8:67384800-67389800	Weak transcription	NH-A	brain
21	chr8:67384800-67392200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:67384800-67392200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr8:67384800-67392200	Weak transcription	HSMMtube	muscle
24	chr8:67384800-67395800	Weak transcription	Left Ventricle	heart
25	chr8:67385000-67389400	Weak transcription	HSMM	muscle
26	chr8:67385600-67387000	Enhancers	HepG2	liver
27	chr8:67386000-67386800	Enhancers	Fetal Intestine Large	intestine
28	chr8:67386000-67388600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr8:67386000-67389600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:67386000-67389800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr8:67386000-67389800	Weak transcription	Hela-S3	cervix
32	chr8:67386000-67390000	Weak transcription	NHEK	skin
33	chr8:67386200-67389400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:67386200-67389400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:67386400-67390000	Weak transcription	HMEC	breast
36	chr8:67386600-67386800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr8:67386600-67386800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:67386800-67387000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr8:67386800-67387000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr8:67387000-67388800	Weak transcription	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links