Variant report

Variant	esv3480576
Chromosome Location	chr8:100698424-100701711
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	chr8:100700326..100701994-chr8:100715274..100717581,2	K562	blood:

Extended variants
information (count: 128 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573343038	chr8:100698474-100698475	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75566080	chr8:100698485-100698486	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4735632	chr8:100698499-100698500	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs531037882	chr8:100698550-100698551	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182485611	chr8:100698582-100698583	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188109002	chr8:100698630-100698631	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533028825	chr8:100698711-100698712	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546467754	chr8:100698714-100698715	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560430417	chr8:100698718-100698719	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529067388	chr8:100698743-100698744	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191205519	chr8:100698757-100698758	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549204939	chr8:100698759-100698760	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568810425	chr8:100698769-100698770	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537945731	chr8:100698779-100698780	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140795320	chr8:100698787-100698788	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs57286336	chr8:100698824-100698825	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs533807729	chr8:100698842-100698843	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552599157	chr8:100698882-100698883	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553381943	chr8:100698978-100698979	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141432938	chr8:100698980-100698981	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566324158	chr8:100699026-100699027	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114798824	chr8:100699041-100699042	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4734435	chr8:100699049-100699050	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs76815689	chr8:100699074-100699075	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568575590	chr8:100699079-100699080	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150822381	chr8:100699087-100699088	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567055845	chr8:100699121-100699122	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577597712	chr8:100699128-100699129	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540269864	chr8:100699238-100699239	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs183566737	chr8:100699256-100699257	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs575586379	chr8:100699259-100699260	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs139434931	chr8:100699264-100699265	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs548861591	chr8:100699304-100699305	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs562727139	chr8:100699322-100699323	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs188446877	chr8:100699344-100699345	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs193238524	chr8:100699358-100699359	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs571408883	chr8:100699364-100699365	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs533768108	chr8:100699373-100699374	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs547373555	chr8:100699382-100699383	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs372611410	chr8:100699424-100699425	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536163053	chr8:100699436-100699437	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185024016	chr8:100699455-100699456	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186788915	chr8:100699515-100699516	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs150049541	chr8:100699548-100699549	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557819041	chr8:100699565-100699566	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535932637	chr8:100699568-100699569	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7002637	chr8:100699577-100699578	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146609286	chr8:100699696-100699697	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558327908	chr8:100699714-100699715	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79840876	chr8:100699735-100699736	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
head and neck squamous cell carcinoma	19451471	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
Malignant melanoma	17260012	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Colorectal cancer	19455253	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Cohen syndrome	20461111	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100675400-100706000	Weak transcription	Left Ventricle	heart
2	chr8:100687000-100739800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:100688400-100708200	Weak transcription	HSMMtube	muscle
4	chr8:100688600-100705600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr8:100688800-100698800	Weak transcription	Gastric	stomach
6	chr8:100688800-100704600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:100688800-100711400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr8:100688800-100716000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr8:100689000-100698800	Weak transcription	Thymus	Thymus
10	chr8:100692000-100711800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr8:100692800-100698800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:100695200-100708200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:100695200-100709800	Weak transcription	Pancreas	Pancrea
14	chr8:100696000-100700000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:100697600-100700800	Strong transcription	Primary T cells from cord blood	blood
16	chr8:100697800-100699000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:100697800-100700400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
18	chr8:100698000-100698600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:100698000-100698600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr8:100698000-100698800	Enhancers	NHEK	skin
21	chr8:100698000-100699000	ZNF genes & repeats	Placenta	Placenta
22	chr8:100698000-100699000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
23	chr8:100698000-100699800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
24	chr8:100698000-100699800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:100698000-100716000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr8:100698200-100698600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
27	chr8:100698200-100698600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:100698200-100698600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:100698200-100698800	ZNF genes & repeats	Fetal Muscle Leg	muscle
30	chr8:100698200-100699000	Enhancers	K562	blood
31	chr8:100698200-100699200	Enhancers	Stomach Mucosa	stomach
32	chr8:100698200-100699600	Strong transcription	Ovary	ovary
33	chr8:100698200-100699800	Strong transcription	Primary B cells from peripheral blood	blood
34	chr8:100698200-100700000	Strong transcription	Primary B cells from cord blood	blood
35	chr8:100698200-100700000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr8:100698200-100700000	ZNF genes & repeats	Fetal Stomach	stomach
37	chr8:100698200-100714600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:100698400-100698600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
39	chr8:100698400-100698800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr8:100698400-100698800	Weak transcription	Adipose Nuclei	Adipose
41	chr8:100698400-100699000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:100698400-100699200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:100698400-100699400	Strong transcription	Aorta	Aorta
44	chr8:100698400-100699400	Strong transcription	Fetal Lung	lung
45	chr8:100698400-100699600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
46	chr8:100698400-100699600	Strong transcription	Fetal Intestine Large	intestine
47	chr8:100698400-100699800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr8:100698400-100699800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:100698400-100699800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:100698400-100699800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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