Variant report

Variant	esv3423094
Chromosome Location	chr8:105558201-105562474
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:105556248..105558457-chr8:105560436..105562817,2	MCF-7	breast:
2	chr8:105560103..105561664-chr8:105601162..105603797,2	K562	blood:
3	chr8:105556248..105558457-chr8:105560436..105562817,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147650	chromatin interactions
ENSG00000253350	chromatin interactions

Extended variants
information (count: 214 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:214 , 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	rs538688389	chr8:105558235-105558236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191998037	chr8:105558240-105558241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569363203	chr8:105558266-105558267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78450408	chr8:105558344-105558345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184697800	chr8:105558388-105558389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142363501	chr8:105558389-105558390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73295157	chr8:105558409-105558410	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs75427974	chr8:105558412-105558413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146319035	chr8:105558441-105558442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544252104	chr8:105558460-105558461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189560464	chr8:105558483-105558484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116926374	chr8:105558510-105558511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531520300	chr8:105558524-105558525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541585252	chr8:105558526-105558527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181516058	chr8:105558534-105558535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527492662	chr8:105558549-105558550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551943524	chr8:105558567-105558568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564088110	chr8:105558568-105558569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531482315	chr8:105558579-105558580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7815209	chr8:105558581-105558582	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs112850216	chr8:105558634-105558635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530056682	chr8:105558652-105558653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572095712	chr8:105558678-105558679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548402489	chr8:105558683-105558684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566958680	chr8:105558701-105558702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112426058	chr8:105558751-105558752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143422894	chr8:105558758-105558759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185903054	chr8:105558803-105558804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12680652	chr8:105558824-105558825	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs146725021	chr8:105558873-105558874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574355341	chr8:105558894-105558895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs56805203	chr8:105558913-105558914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7819498	chr8:105558914-105558915	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs553492977	chr8:105558961-105558962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116772693	chr8:105558966-105558967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545623216	chr8:105559056-105559057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563924386	chr8:105559063-105559064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11269520	chr8:105559082-105559083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200806441	chr8:105559111-105559112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111655176	chr8:105559113-105559114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374777967	chr8:105559114-105559115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572712785	chr8:105559137-105559138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531373600	chr8:105559158-105559159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28482075	chr8:105559177-105559178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28750244	chr8:105559178-105559179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189326760	chr8:105559187-105559188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199525976	chr8:105559194-105559195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs180931611	chr8:105559199-105559200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200580125	chr8:105559248-105559249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149948312	chr8:105559251-105559252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	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
abnormal development	18461090	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
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
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
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105521800-105568800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:105540000-105562000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:105542800-105558600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:105542800-105565400	Weak transcription	Left Ventricle	heart
5	chr8:105545200-105565600	Weak transcription	Aorta	Aorta
6	chr8:105551000-105565200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:105553800-105559000	Enhancers	K562	blood
8	chr8:105555600-105561000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:105556400-105565000	Weak transcription	Dnd41	blood
10	chr8:105557200-105565600	Weak transcription	Fetal Thymus	thymus
11	chr8:105557400-105565000	Weak transcription	Ovary	ovary
12	chr8:105557400-105583800	Weak transcription	Thymus	Thymus
13	chr8:105557600-105558400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr8:105558000-105558400	Enhancers	Osteobl	bone
15	chr8:105558000-105565600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr8:105559000-105565800	Weak transcription	K562	blood
17	chr8:105561000-105561600	Strong transcription	Primary hematopoietic stem cells	blood
18	chr8:105561600-105563600	Weak transcription	Primary hematopoietic stem cells	blood

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