Variant report

Variant	esv1807819
Chromosome Location	chr8:54521863-54528984
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 357 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:357 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34948209	chr8:54521863-54521864	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs13250079	chr8:54521864-54521865	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs576998342	chr8:54521868-54521869	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs545665934	chr8:54521895-54521896	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs71501581	chr8:54521909-54521910	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs13250120	chr8:54521910-54521911	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs541673713	chr8:54521920-54521921	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs151210012	chr8:54521931-54521932	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs367609148	chr8:54521933-54521934	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs367866612	chr8:54521934-54521935	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs561753677	chr8:54521941-54521942	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs527666850	chr8:54521952-54521953	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs146090653	chr8:54521979-54521980	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs11785465	chr8:54521986-54521987	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs533607830	chr8:54521987-54521988	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs191236012	chr8:54522057-54522058	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs11785489	chr8:54522074-54522075	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs529624741	chr8:54522104-54522105	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs139813643	chr8:54522106-54522107	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs568109492	chr8:54522110-54522111	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs533749422	chr8:54522157-54522158	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs553870164	chr8:54522176-54522177	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs570471763	chr8:54522182-54522183	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs539494133	chr8:54522220-54522221	Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs556086410	chr8:54522221-54522222	Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs112607123	chr8:54522226-54522227	Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs541759343	chr8:54522227-54522228	Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs62505102	chr8:54522231-54522232	Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs200369009	chr8:54522234-54522235	Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs145845476	chr8:54522235-54522236	Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs62505103	chr8:54522236-54522237	Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs541050405	chr8:54522247-54522248	Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs555769460	chr8:54522263-54522264	Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs564469614	chr8:54522271-54522272	Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs533286293	chr8:54522299-54522300	Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs28376752	chr8:54522316-54522317	Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs187394375	chr8:54522318-54522319	Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs541406003	chr8:54522351-54522352	Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs192580106	chr8:54522359-54522360	Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs549726876	chr8:54522368-54522369	Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs28550710	chr8:54522370-54522371	Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs528763442	chr8:54522384-54522385	Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs532405651	chr8:54522407-54522408	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148929466	chr8:54522418-54522419	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546023664	chr8:54522430-54522431	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369011174	chr8:54522443-54522444	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113220699	chr8:54522450-54522451	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113600868	chr8:54522469-54522470	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547960698	chr8:54522474-54522475	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112797118	chr8:54522478-54522479	Active TSS Weak transcription	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:47 , 50 per page) page: 1

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

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