Variant report

Variant	esv3422453
Chromosome Location	chr8:100436776-100442774
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	chr8:100440991..100443912-chr8:100444936..100447073,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OSR2-7	chr8:100441798-100441875	NONHSAT127953

Extended variants
information (count: 281 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199798581	chr8:100436795-100436796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181588336	chr8:100436820-100436821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200812220	chr8:100436947-100436948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201826086	chr8:100436956-100436957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184640934	chr8:100436965-100436966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144762501	chr8:100436968-100436969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550308447	chr8:100436979-100436980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570255038	chr8:100436993-100436994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113710125	chr8:100436994-100436995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550278416	chr8:100437004-100437005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200749543	chr8:100437021-100437022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552619313	chr8:100437088-100437089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566060928	chr8:100437090-100437091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535147825	chr8:100437099-100437100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555095795	chr8:100437108-100437109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539622046	chr8:100437119-100437120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536865273	chr8:100437135-100437136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201838327	chr8:100437137-100437138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557074171	chr8:100437195-100437196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200048321	chr8:100437205-100437206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558362659	chr8:100437219-100437220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573369724	chr8:100437267-100437268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577088509	chr8:100437269-100437270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3134186	chr8:100437282-100437283	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs558958803	chr8:100437331-100437332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147027476	chr8:100437334-100437335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539074390	chr8:100437349-100437350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541572231	chr8:100437361-100437362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561440085	chr8:100437366-100437367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540898140	chr8:100437377-100437378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530579593	chr8:100437395-100437396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543675761	chr8:100437416-100437417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189398949	chr8:100437442-100437443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201336402	chr8:100437447-100437448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546565536	chr8:100437448-100437449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532728109	chr8:100437451-100437452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552879174	chr8:100437466-100437467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12056797	chr8:100437470-100437471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199917894	chr8:100437483-100437484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201020058	chr8:100437527-100437528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182246087	chr8:100437528-100437529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548564517	chr8:100437580-100437581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537527124	chr8:100437595-100437596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556896193	chr8:100437615-100437616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570610274	chr8:100437639-100437640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539376769	chr8:100437655-100437656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552846761	chr8:100437678-100437679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572546744	chr8:100437695-100437696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187307506	chr8:100437756-100437757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201860564	chr8:100437780-100437781	Weak 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
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

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100384400-100437600	Weak transcription	Lung	lung
2	chr8:100393600-100445200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:100397800-100445000	Weak transcription	HSMM	muscle
4	chr8:100399800-100445400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr8:100399800-100498400	Weak transcription	Thymus	Thymus
6	chr8:100404400-100441800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr8:100404400-100444600	Weak transcription	Placenta	Placenta
8	chr8:100416200-100445200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:100419600-100463600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr8:100420800-100441800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr8:100421000-100448400	Weak transcription	NH-A	brain
12	chr8:100421600-100472800	Weak transcription	Aorta	Aorta
13	chr8:100421800-100444400	Weak transcription	NHDF-Ad	bronchial
14	chr8:100425000-100442200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr8:100425000-100443800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:100425200-100443400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:100426000-100466200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr8:100426200-100441800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr8:100427000-100444800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:100427200-100444400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr8:100427400-100444400	Weak transcription	Adipose Nuclei	Adipose
22	chr8:100427400-100445000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr8:100427800-100441600	Weak transcription	Primary B cells from cord blood	blood
24	chr8:100427800-100444600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:100428200-100444600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr8:100428400-100444000	Weak transcription	Primary T cells from cord blood	blood
27	chr8:100428400-100445000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr8:100428600-100444600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:100428600-100456400	Weak transcription	Fetal Stomach	stomach
30	chr8:100428600-100466600	Weak transcription	Spleen	Spleen
31	chr8:100429000-100437000	Weak transcription	Gastric	stomach
32	chr8:100429000-100443000	Weak transcription	Fetal Intestine Small	intestine
33	chr8:100429000-100445200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:100429400-100445200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr8:100430400-100445200	Weak transcription	HSMMtube	muscle
36	chr8:100430600-100444400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:100431400-100445200	Weak transcription	Ovary	ovary
38	chr8:100431600-100444400	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr8:100434400-100445200	Weak transcription	Left Ventricle	heart
40	chr8:100435600-100445000	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr8:100440000-100444400	Weak transcription	Liver	Liver
42	chr8:100440600-100445200	Weak transcription	NHLF	lung
43	chr8:100440600-100448400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr8:100441600-100442200	Strong transcription	Primary B cells from cord blood	blood
45	chr8:100441800-100442000	ZNF genes & repeats	Fetal Kidney	kidney
46	chr8:100441800-100442400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr8:100441800-100443400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
48	chr8:100442000-100445000	Weak transcription	Fetal Kidney	kidney
49	chr8:100442000-100445200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:100442200-100444400	Weak transcription	Primary B cells from cord blood	blood

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