Variant report

Variant	esv2546871
Chromosome Location	chr8:6587189-6588823
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:6585868..6588138-chr8:6590976..6594012,3	K562	blood:
2	chr8:6585357..6588723-chr8:6589806..6592858,3	K562	blood:
3	chr8:6588695..6590536-chr8:6600051..6602655,2	K562	blood:
4	chr8:6565315..6567017-chr8:6588017..6590548,2	MCF-7	breast:
5	chr8:6586318..6588340-chr8:6595222..6598218,2	K562	blood:
6	chr8:6585827..6588340-chr8:6594448..6598218,3	K562	blood:
7	chr8:6579053..6581015-chr8:6588545..6590944,2	MCF-7	breast:
8	chr8:6563956..6568156-chr8:6584449..6592281,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155189	chromatin interactions
ENSG00000249898	chromatin interactions

Extended variants
information (count: 102 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551743296	chr8:6587220-6587221	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs57348710	chr8:6587223-6587224	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs144296543	chr8:6587265-6587266	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs2980682	chr8:6587270-6587271	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs183933965	chr8:6587305-6587306	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs111666770	chr8:6587344-6587345	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs371543396	chr8:6587389-6587390	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs185365544	chr8:6587400-6587401	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs554017462	chr8:6587420-6587421	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs10088817	chr8:6587422-6587423	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs539482747	chr8:6587427-6587428	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs556563148	chr8:6587443-6587444	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs74975580	chr8:6587473-6587474	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs542493524	chr8:6587502-6587503	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs562360218	chr8:6587520-6587521	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs148707601	chr8:6587530-6587531	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs189982498	chr8:6587549-6587550	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs560024895	chr8:6587607-6587608	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs532201730	chr8:6587615-6587616	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs201311554	chr8:6587617-6587618	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs551780372	chr8:6587634-6587635	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs562098676	chr8:6587639-6587640	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs75791652	chr8:6587642-6587643	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs372109528	chr8:6587665-6587666	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs374337325	chr8:6587750-6587751	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs142276155	chr8:6587779-6587780	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs568339293	chr8:6587824-6587825	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs533772615	chr8:6587829-6587830	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs13261314	chr8:6587837-6587838	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs570872190	chr8:6587838-6587839	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs113133045	chr8:6587867-6587868	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs71505131	chr8:6587870-6587871	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs377038362	chr8:6587876-6587877	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs71505132	chr8:6587922-6587923	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs112296884	chr8:6587931-6587932	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs539892014	chr8:6587953-6587954	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs534431347	chr8:6587962-6587963	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs537009274	chr8:6587987-6587988	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs570106354	chr8:6588007-6588008	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs535848780	chr8:6588008-6588009	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs554289083	chr8:6588076-6588077	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs368421419	chr8:6588094-6588095	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs574234051	chr8:6588114-6588115	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs558306554	chr8:6588119-6588120	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs576869539	chr8:6588140-6588141	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs187335374	chr8:6588141-6588142	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs562233635	chr8:6588145-6588146	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs192891485	chr8:6588146-6588147	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs541400354	chr8:6588147-6588148	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs561866377	chr8:6588148-6588149	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:137)

Disease	PMID	Source
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cognitive impairment	21505072	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:226 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6567400-6590000	Weak transcription	Left Ventricle	heart
2	chr8:6567400-6590200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:6567400-6590600	Weak transcription	Psoas Muscle	Psoas
4	chr8:6567400-6590800	Weak transcription	Pancreas	Pancrea
5	chr8:6567400-6592600	Weak transcription	Aorta	Aorta
6	chr8:6567600-6589400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr8:6567800-6589200	Weak transcription	Brain Substantia Nigra	brain
8	chr8:6567800-6590000	Weak transcription	NHLF	lung
9	chr8:6568000-6589400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr8:6568000-6603400	Weak transcription	Fetal Brain Male	brain
11	chr8:6568400-6589800	Weak transcription	HSMMtube	muscle
12	chr8:6568400-6590400	Weak transcription	Brain Germinal Matrix	brain
13	chr8:6571400-6587200	Weak transcription	Small Intestine	intestine
14	chr8:6572400-6590000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr8:6576000-6589800	Weak transcription	Fetal Muscle Leg	muscle
16	chr8:6576000-6590800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:6576000-6590800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:6576000-6591200	Weak transcription	Fetal Stomach	stomach
19	chr8:6576200-6589400	Weak transcription	Brain Anterior Caudate	brain
20	chr8:6576200-6590200	Weak transcription	Fetal Heart	heart
21	chr8:6576200-6590400	Weak transcription	Fetal Brain Female	brain
22	chr8:6576400-6588000	Weak transcription	Fetal Thymus	thymus
23	chr8:6576400-6590200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr8:6577200-6590000	Weak transcription	Thymus	Thymus
25	chr8:6577800-6592000	Weak transcription	Placenta	Placenta
26	chr8:6578200-6589400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:6578200-6590600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr8:6578600-6588200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:6582600-6587800	Enhancers	Primary hematopoietic stem cells	blood
30	chr8:6582600-6594600	Strong transcription	Hela-S3	cervix
31	chr8:6582800-6587800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr8:6583000-6589400	Weak transcription	A549	lung
33	chr8:6583200-6587800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr8:6583400-6587200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr8:6583400-6589200	Weak transcription	Fetal Kidney	kidney
36	chr8:6584400-6588200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:6584400-6588200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr8:6584400-6588200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr8:6584400-6590000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr8:6584600-6588200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:6584600-6589400	Weak transcription	Brain Hippocampus Middle	brain
42	chr8:6584800-6592200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr8:6585000-6587600	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr8:6585200-6590800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:6585400-6587400	Genic enhancers	HUES64 Cell Line	embryonic stem cell
46	chr8:6585400-6587400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:6585400-6587800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr8:6585400-6587800	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr8:6585400-6588200	Weak transcription	HepG2	liver
50	chr8:6585600-6587200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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