Variant report

Variant	esv3354895
Chromosome Location	chr8:95799676-95801124
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	chr8:95795234..95797396-chr8:95798453..95800886,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373065714	chr8:95799680-95799681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148730435	chr8:95799816-95799817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143567126	chr8:95799830-95799831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs193020768	chr8:95799838-95799839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73697033	chr8:95799867-95799868	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs545257624	chr8:95799908-95799909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146827734	chr8:95800025-95800026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527830988	chr8:95800034-95800035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146246430	chr8:95800137-95800138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547862125	chr8:95800138-95800139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199952345	chr8:95800143-95800144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183450188	chr8:95800193-95800194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138032429	chr8:95800219-95800220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201689772	chr8:95800230-95800231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187836662	chr8:95800244-95800245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149490733	chr8:95800253-95800254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143942673	chr8:95800266-95800267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148628207	chr8:95800280-95800281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200093964	chr8:95800311-95800312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552382149	chr8:95800319-95800320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147315561	chr8:95800323-95800324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200315531	chr8:95800324-95800325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4428644	chr8:95800325-95800326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184134510	chr8:95800327-95800328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73697035	chr8:95800376-95800377	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs4442108	chr8:95800377-95800378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189778925	chr8:95800439-95800440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201726947	chr8:95800444-95800445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79336269	chr8:95800455-95800456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4442109	chr8:95800463-95800464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192917862	chr8:95800494-95800495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115617093	chr8:95800514-95800515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576432599	chr8:95800533-95800534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73697036	chr8:95800538-95800539	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs113305522	chr8:95800615-95800616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139633922	chr8:95800634-95800635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144264239	chr8:95800669-95800670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs151090896	chr8:95800792-95800793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372920772	chr8:95800816-95800817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547906818	chr8:95800817-95800818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530053718	chr8:95800828-95800829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543442579	chr8:95800851-95800852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184133145	chr8:95800852-95800853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77323108	chr8:95800865-95800866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs398095971	chr8:95800868-95800869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11776128	chr8:95800869-95800870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201051771	chr8:95800870-95800871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552442993	chr8:95800874-95800875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566149765	chr8:95800875-95800876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528658230	chr8:95800877-95800878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Acute lymphoblastic leukemia	18458336	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
Epilepsy	20502679	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	17847001	CNVD
Neuropsychiatric disorder	20069037	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Colorectal cancer	21645411	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95733000-95803800	Weak transcription	Psoas Muscle	Psoas
2	chr8:95733000-95805200	Weak transcription	Colonic Mucosa	Colon
3	chr8:95733200-95805000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr8:95733600-95809400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:95733800-95806400	Weak transcription	Fetal Brain Male	brain
6	chr8:95752400-95809200	Weak transcription	NHLF	lung
7	chr8:95752600-95805600	Weak transcription	NHEK	skin
8	chr8:95761800-95803600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:95773200-95804800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:95773600-95809400	Weak transcription	HSMMtube	muscle
11	chr8:95773800-95802600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:95774800-95799800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr8:95774800-95803200	Weak transcription	Fetal Heart	heart
14	chr8:95776200-95803800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:95777400-95804000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr8:95778600-95802600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr8:95780800-95808000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr8:95781200-95800800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr8:95784200-95801200	Weak transcription	Brain Germinal Matrix	brain
20	chr8:95785000-95802400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:95785000-95803800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr8:95785000-95804600	Weak transcription	Right Ventricle	heart
23	chr8:95785000-95809800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:95785200-95803200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:95785200-95805000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr8:95785800-95809200	Weak transcription	Colon Smooth Muscle	Colon
27	chr8:95786200-95803800	Weak transcription	Small Intestine	intestine
28	chr8:95786200-95811600	Weak transcription	Spleen	Spleen
29	chr8:95786200-95812800	Weak transcription	Gastric	stomach
30	chr8:95786400-95809600	Weak transcription	Lung	lung
31	chr8:95786600-95802400	Weak transcription	Esophagus	oesophagus
32	chr8:95786600-95807800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:95789200-95804400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:95789600-95804400	Strong transcription	Liver	Liver
35	chr8:95791200-95809600	Weak transcription	Brain Angular Gyrus	brain
36	chr8:95791400-95806600	Weak transcription	Aorta	Aorta
37	chr8:95791400-95809800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr8:95791400-95812400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr8:95791600-95809600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:95791800-95800800	Weak transcription	Primary B cells from peripheral blood	blood
41	chr8:95791800-95802400	Weak transcription	Pancreas	Pancrea
42	chr8:95792000-95811600	Weak transcription	Thymus	Thymus
43	chr8:95792200-95809800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr8:95793000-95804400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:95793400-95801600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:95794000-95809400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr8:95794000-95809600	Weak transcription	Brain Hippocampus Middle	brain
48	chr8:95794200-95809800	Weak transcription	K562	blood
49	chr8:95794400-95801400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:95794400-95803800	Weak transcription	Placenta Amnion	Placenta Amnion

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