Variant report

Variant	esv3435292
Chromosome Location	chr8:54667399-54669547
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	chr8:54667680..54670590-chr8:54671196..54673684,2	K562	blood:

Extended variants
information (count: 114 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561297214	chr8:54667427-54667428	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs527286395	chr8:54667428-54667429	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs145151574	chr8:54667430-54667431	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs185169861	chr8:54667432-54667433	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs189437341	chr8:54667474-54667475	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs199976331	chr8:54667490-54667491	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs568677464	chr8:54667525-54667526	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs139035197	chr8:54667570-54667571	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs547836295	chr8:54667614-54667615	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111548854	chr8:54667640-54667641	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113120140	chr8:54667665-54667666	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572613257	chr8:54667692-54667693	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183767374	chr8:54667703-54667704	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188162982	chr8:54667709-54667710	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140726645	chr8:54667736-54667737	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543773984	chr8:54667747-54667748	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs57663732	chr8:54667787-54667788	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs180709997	chr8:54667795-54667796	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186403656	chr8:54667824-54667825	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145768715	chr8:54667862-54667863	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527417793	chr8:54667865-54667866	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs58838407	chr8:54667866-54667867	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs563943984	chr8:54667870-54667871	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533214379	chr8:54667891-54667892	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549813415	chr8:54667900-54667901	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570014791	chr8:54667932-54667933	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150502844	chr8:54667951-54667952	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529091241	chr8:54667963-54667964	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575761769	chr8:54667995-54667996	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs57923652	chr8:54668013-54668014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148141700	chr8:54668020-54668021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533772966	chr8:54668031-54668032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534830320	chr8:54668061-54668062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141183462	chr8:54668074-54668075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571560570	chr8:54668082-54668083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189733191	chr8:54668083-54668084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561076292	chr8:54668137-54668138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552234869	chr8:54668152-54668153	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181818157	chr8:54668197-54668198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574032293	chr8:54668198-54668199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368693525	chr8:54668202-54668203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373198067	chr8:54668216-54668217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186023301	chr8:54668232-54668233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150756956	chr8:54668236-54668237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79717137	chr8:54668246-54668247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534943352	chr8:54668248-54668249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs67278824	chr8:54668298-54668299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574299152	chr8:54668302-54668303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371433553	chr8:54668304-54668305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71254921	chr8:54668324-54668325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54642600-54672800	Weak transcription	Right Ventricle	heart
2	chr8:54645600-54671400	Weak transcription	NHLF	lung
3	chr8:54646000-54672600	Weak transcription	Psoas Muscle	Psoas
4	chr8:54650200-54671000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:54650200-54707400	Weak transcription	HUVEC	blood vessel
6	chr8:54651400-54670400	Weak transcription	Fetal Brain Male	brain
7	chr8:54652800-54673000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr8:54653400-54670000	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr8:54655400-54669600	Weak transcription	Esophagus	oesophagus
10	chr8:54655400-54703600	Weak transcription	Brain Angular Gyrus	brain
11	chr8:54655600-54672400	Weak transcription	Fetal Heart	heart
12	chr8:54655800-54671000	Weak transcription	Fetal Brain Female	brain
13	chr8:54655800-54726000	Weak transcription	Colonic Mucosa	Colon
14	chr8:54656400-54669600	Weak transcription	Gastric	stomach
15	chr8:54656400-54672600	Weak transcription	Small Intestine	intestine
16	chr8:54656600-54676200	Weak transcription	Aorta	Aorta
17	chr8:54656800-54669600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr8:54656800-54680200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr8:54657000-54672600	Weak transcription	HepG2	liver
20	chr8:54657400-54671000	Weak transcription	Colon Smooth Muscle	Colon
21	chr8:54658400-54667800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr8:54658400-54670800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr8:54658400-54671000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr8:54658400-54679600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:54658600-54671000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr8:54658800-54671000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr8:54658800-54671000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr8:54659400-54671000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr8:54659400-54671000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr8:54660200-54669800	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr8:54660400-54671400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:54660600-54671600	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr8:54660800-54670000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:54660800-54670000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr8:54661000-54668000	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr8:54661000-54668200	Strong transcription	Primary B cells from peripheral blood	blood
37	chr8:54661400-54669800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:54661600-54670000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:54661600-54670200	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr8:54661600-54671200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr8:54661600-54671400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:54661800-54673400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr8:54662000-54667800	Strong transcription	Liver	Liver
44	chr8:54662000-54670200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:54662200-54670200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:54662400-54670200	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr8:54662600-54670600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:54662600-54671600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:54662800-54672000	Strong transcription	Primary T cells from cord blood	blood
50	chr8:54663000-54667800	Strong transcription	Brain Anterior Caudate	brain

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