Variant report

Variant	esv3367069
Chromosome Location	chr8:8706083-8706434
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	chr8:8705274..8707873-chr8:8797138..8799236,2	K562	blood:
2	chr8:8702216..8704089-chr8:8704217..8706450,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 140 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375629585	chr8:8706090-8706091	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs570599135	chr8:8706095-8706096	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs539589330	chr8:8706106-8706107	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs35147353	chr8:8706131-8706132	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs201685734	chr8:8706138-8706139	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs556289555	chr8:8706154-8706155	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs186475163	chr8:8706158-8706159	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs366072	chr8:8706162-8706163	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs11249896	chr8:8706209-8706210	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs191650254	chr8:8706224-8706225	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs571213338	chr8:8706230-8706231	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs200700310	chr8:8706235-8706236	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs572677657	chr8:8706255-8706256	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs183427958	chr8:8706264-8706265	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs78397915	chr8:8706289-8706290	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs577765612	chr8:8706326-8706327	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs149265596	chr8:8706330-8706331	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs408459	chr8:8706332-8706333	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs573377119	chr8:8706333-8706334	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs75084326	chr8:8706345-8706346	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs73525731	chr8:8706349-8706350	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs528419023	chr8:8706353-8706354	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs535686954	chr8:8706358-8706359	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs547387160	chr8:8706405-8706406	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs570516888	chr8:8706406-8706407	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs2664043	chr8:8706413-8706414	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs2664042	chr8:8706416-8706417	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs539509507	chr8:8706425-8706426	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs112929420	chr8:8706427-8706428	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs569887721	chr8:8706432-8706433	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:140)

Disease	PMID	Source
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
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
Lung cancer	18438408	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	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
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD
Gastric cancer	17229543	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8687600-8706600	Weak transcription	Lung	lung
2	chr8:8692200-8717600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:8692600-8707000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:8699400-8729600	Weak transcription	Fetal Stomach	stomach
5	chr8:8700000-8707400	Enhancers	Fetal Thymus	thymus
6	chr8:8700200-8706200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr8:8700200-8707400	Enhancers	Fetal Kidney	kidney
8	chr8:8700200-8708000	Weak transcription	Spleen	Spleen
9	chr8:8700400-8706800	Weak transcription	Esophagus	oesophagus
10	chr8:8701000-8706600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr8:8701000-8707800	Enhancers	Fetal Intestine Large	intestine
12	chr8:8701200-8706400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr8:8701400-8706200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:8701400-8708400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:8701600-8706600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:8701800-8706400	Enhancers	Thymus	Thymus
17	chr8:8702200-8726000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:8702200-8726400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:8702400-8706800	Weak transcription	Liver	Liver
20	chr8:8702400-8706800	Weak transcription	Pancreas	Pancrea
21	chr8:8702400-8708000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:8702400-8708200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:8702400-8708200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:8702400-8708400	Weak transcription	NH-A	brain
25	chr8:8702400-8709600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr8:8702400-8713600	Weak transcription	Gastric	stomach
27	chr8:8702600-8707000	Enhancers	A549	lung
28	chr8:8703000-8725200	Weak transcription	Hela-S3	cervix
29	chr8:8703200-8709400	Weak transcription	Psoas Muscle	Psoas
30	chr8:8703600-8706800	Weak transcription	Left Ventricle	heart
31	chr8:8703600-8713600	Weak transcription	Brain Substantia Nigra	brain
32	chr8:8704000-8707400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr8:8704200-8709400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:8704400-8706800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:8704400-8708400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:8705000-8706400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr8:8705000-8706400	Enhancers	Brain Germinal Matrix	brain
38	chr8:8705000-8706800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:8705000-8707600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr8:8705000-8708200	Weak transcription	HSMM	muscle
41	chr8:8705000-8723600	Weak transcription	Fetal Muscle Leg	muscle
42	chr8:8705200-8706200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr8:8705200-8706200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr8:8705200-8706200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:8705200-8706400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:8705200-8707000	Enhancers	HepG2	liver
47	chr8:8705200-8707400	Enhancers	Stomach Smooth Muscle	stomach
48	chr8:8705200-8709600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr8:8705400-8706200	Enhancers	Brain Hippocampus Middle	brain
50	chr8:8705400-8706400	Flanking Active TSS	Primary T cells from cord blood	blood

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