Variant report

Variant	esv3479950
Chromosome Location	chr8:121872543-121874466
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:121865791..121868375-chr8:121870953..121873135,2	K562	blood:
2	chr8:121864308..121866677-chr8:121872620..121875288,2	MCF-7	breast:
3	chr8:121861612..121864034-chr8:121872422..121874822,2	MCF-7	breast:

Extended variants
information (count: 84 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547436291	chr8:121872543-121872544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565729764	chr8:121872553-121872554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536152401	chr8:121872562-121872563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554522842	chr8:121872587-121872588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576198587	chr8:121872602-121872603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377499301	chr8:121872604-121872605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149852586	chr8:121872606-121872607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558692290	chr8:121872622-121872623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576910046	chr8:121872628-121872629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77898101	chr8:121872646-121872647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559399473	chr8:121872715-121872716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76172036	chr8:121872723-121872724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543365299	chr8:121872728-121872729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4501619	chr8:121872729-121872730	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs532016036	chr8:121872756-121872757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201497096	chr8:121872823-121872824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113721113	chr8:121872829-121872830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531371995	chr8:121872847-121872848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11396258	chr8:121872852-121872853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs58694147	chr8:121872853-121872854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs397945014	chr8:121872855-121872856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565474261	chr8:121872868-121872869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192446107	chr8:121872875-121872876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201266000	chr8:121872916-121872917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545000828	chr8:121872935-121872936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79130090	chr8:121872937-121872938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs61335927	chr8:121872952-121872953	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs558113267	chr8:121872974-121872975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548545361	chr8:121873014-121873015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569876526	chr8:121873015-121873016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35727987	chr8:121873031-121873032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537347002	chr8:121873095-121873096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558512050	chr8:121873096-121873097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565227505	chr8:121873097-121873098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577071435	chr8:121873142-121873143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75372407	chr8:121873215-121873216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566464005	chr8:121873221-121873222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370033984	chr8:121873229-121873230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553075237	chr8:121873248-121873249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139713677	chr8:121873335-121873336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6996149	chr8:121873345-121873346	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs563273074	chr8:121873422-121873423	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs114388535	chr8:121873453-121873454	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs544086920	chr8:121873470-121873471	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs111877233	chr8:121873475-121873476	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs10109303	chr8:121873486-121873487	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs183786222	chr8:121873508-121873509	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs73327045	chr8:121873553-121873554	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs368672803	chr8:121873604-121873605	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs144034524	chr8:121873658-121873659	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:141)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	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
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	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Burkitt''s lymphoma	20823134	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121868200-121872600	Enhancers	NHLF	lung
2	chr8:121868800-121874600	Enhancers	Primary hematopoietic stem cells	blood
3	chr8:121868800-121877200	Enhancers	HepG2	liver
4	chr8:121869000-121874600	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr8:121869000-121874800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr8:121870000-121873400	Weak transcription	Colonic Mucosa	Colon
7	chr8:121870000-121873400	Weak transcription	Right Ventricle	heart
8	chr8:121870200-121873400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:121870200-121873400	Weak transcription	Pancreas	Pancrea
10	chr8:121870200-121873600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr8:121870200-121873800	Weak transcription	Gastric	stomach
12	chr8:121870200-121874800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr8:121870200-121875000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:121870400-121872600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:121870400-121873200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr8:121870400-121873200	Weak transcription	Fetal Thymus	thymus
17	chr8:121870400-121873200	Weak transcription	Lung	lung
18	chr8:121870400-121873200	Weak transcription	Spleen	Spleen
19	chr8:121870400-121873200	Weak transcription	HMEC	breast
20	chr8:121870400-121873200	Weak transcription	HUVEC	blood vessel
21	chr8:121870400-121873400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:121870400-121873400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:121870400-121873400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:121870400-121873400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:121870400-121873400	Weak transcription	Adipose Nuclei	Adipose
26	chr8:121870400-121873400	Weak transcription	Liver	Liver
27	chr8:121870400-121873400	Weak transcription	Left Ventricle	heart
28	chr8:121870400-121873400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr8:121870400-121873400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:121870400-121873400	Weak transcription	Thymus	Thymus
31	chr8:121870400-121873400	Weak transcription	Dnd41	blood
32	chr8:121870400-121873400	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr8:121870400-121873600	Weak transcription	Primary B cells from cord blood	blood
34	chr8:121870400-121873600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr8:121870400-121873600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr8:121870400-121873800	Weak transcription	Psoas Muscle	Psoas
37	chr8:121870400-121875000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr8:121871000-121873200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr8:121871000-121873200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr8:121871000-121873200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:121871000-121873200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:121871000-121873200	Weak transcription	Osteobl	bone
43	chr8:121871000-121873400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:121871000-121873400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:121871000-121873400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr8:121871000-121873400	Weak transcription	HSMM	muscle
47	chr8:121871000-121874000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr8:121871200-121872600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr8:121871200-121873400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr8:121871200-121873400	Weak transcription	HSMMtube	muscle

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