Variant report

Variant	esv1813772
Chromosome Location	chr8:54520350-54540531
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	chr8:54539383..54541156-chr8:54547912..54549422,2	K562	blood:

Extended variants
information (count: 936 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:936 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7387992	chr8:54520350-54520351	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs56705441	chr8:54520359-54520360	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs564689777	chr8:54520364-54520365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530649141	chr8:54520373-54520374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568942182	chr8:54520383-54520384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190429485	chr8:54520384-54520385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529906226	chr8:54520398-54520399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546962501	chr8:54520402-54520403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141823189	chr8:54520404-54520405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371472607	chr8:54520405-54520406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552563799	chr8:54520415-54520416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181567217	chr8:54520579-54520580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114892016	chr8:54520587-54520588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7388300	chr8:54520588-54520589	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs185716632	chr8:54520589-54520590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575080387	chr8:54520648-54520649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534221651	chr8:54520649-54520650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs74399815	chr8:54520650-54520651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189386278	chr8:54520692-54520693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577002721	chr8:54520721-54520722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577134088	chr8:54520745-54520746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143401197	chr8:54520751-54520752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546150499	chr8:54520778-54520779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73680192	chr8:54520790-54520791	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs570907136	chr8:54521239-54521240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12680875	chr8:54521248-54521249	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs71254913	chr8:54521307-54521308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs398112473	chr8:54521319-54521320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183424351	chr8:54521327-54521328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575242692	chr8:54521329-54521330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534649647	chr8:54521340-54521341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537819538	chr8:54521363-54521364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554737716	chr8:54521387-54521388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574599925	chr8:54521416-54521417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540284963	chr8:54521431-54521432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115087168	chr8:54521485-54521486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs146274714	chr8:54521533-54521534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557326204	chr8:54521550-54521551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562621701	chr8:54521578-54521579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs13249232	chr8:54521590-54521591	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs548194709	chr8:54521593-54521594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561716841	chr8:54521619-54521620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527781171	chr8:54521631-54521632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs13251373	chr8:54521649-54521650	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs13260243	chr8:54521657-54521658	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs139263095	chr8:54521734-54521735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35341975	chr8:54521760-54521761	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs13253006	chr8:54521787-54521788	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs536121051	chr8:54521793-54521794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554610027	chr8:54521805-54521806	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54520200-54520800	Enhancers	Brain Germinal Matrix	brain
2	chr8:54521200-54521800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:54521400-54521800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:54521600-54521800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr8:54521600-54521800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:54521600-54521800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr8:54521600-54522000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr8:54521800-54522000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr8:54521800-54522000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr8:54521800-54522000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:54521800-54522000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:54521800-54522000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr8:54521800-54522000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr8:54521800-54522000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr8:54521800-54522000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
16	chr8:54521800-54522000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr8:54521800-54522000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:54521800-54522000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:54521800-54522200	Enhancers	Placenta	Placenta
20	chr8:54522000-54522200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
21	chr8:54522000-54522200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:54522000-54522200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr8:54522000-54522200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:54522000-54522400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:54522000-54522400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr8:54522000-54522400	Enhancers	NHEK	skin
27	chr8:54522000-54522600	Active TSS	H9 Cell Line	embryonic stem cell
28	chr8:54522000-54522600	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr8:54522000-54522600	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr8:54522000-54522600	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr8:54522000-54522600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:54522000-54522600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr8:54522000-54522600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:54522000-54522800	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr8:54522000-54523000	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr8:54522200-54522400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:54522200-54522600	Active TSS	H1 Cell Line	embryonic stem cell
38	chr8:54522200-54522600	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr8:54522200-54522600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:54522400-54528800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:54522600-54523000	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr8:54522600-54528200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:54528000-54529000	Enhancers	Pancreas	Pancrea
44	chr8:54528200-54528400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr8:54528200-54528600	Enhancers	Gastric	stomach
46	chr8:54528200-54529000	Enhancers	Fetal Lung	lung
47	chr8:54528200-54529200	Enhancers	Placenta	Placenta
48	chr8:54528200-54529400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:54528400-54530800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr8:54528400-54532000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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