Variant report

Variant	esv3479916
Chromosome Location	chr8:118980706-118981136
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	chr8:118968228..118970713-chr8:118979031..118981216,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540604337	chr8:118980762-118980763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371305637	chr8:118980770-118980771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369728103	chr8:118980773-118980774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373051750	chr8:118980774-118980775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374997898	chr8:118980775-118980776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17476114	chr8:118980776-118980777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs17476121	chr8:118980777-118980778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs17504925	chr8:118980778-118980779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144963015	chr8:118980785-118980786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574906499	chr8:118980788-118980789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13265395	chr8:118980792-118980793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2514723	chr8:118980793-118980794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201093681	chr8:118980798-118980799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9802083	chr8:118980813-118980814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180865127	chr8:118980878-118980879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561327117	chr8:118980976-118980977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563722283	chr8:118980977-118980978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569123506	chr8:118981008-118981009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186238200	chr8:118981056-118981057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543823971	chr8:118981060-118981061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4876780	chr8:118981097-118981098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532890429	chr8:118981098-118981099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551548315	chr8:118981107-118981108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369096353	chr8:118981108-118981109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:144)

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
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
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
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
Chronic myeloid leukemia	21384125	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17268525	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	19204574	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
Oral squamous cell carcinoma	21853135	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Ovarian cancer	17440070	CNVD
Cancer	17440070	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118969800-118986800	Weak transcription	Lung	lung
2	chr8:118970200-118981800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr8:118970400-118989800	Weak transcription	HSMMtube	muscle
4	chr8:118970600-118981800	Weak transcription	Fetal Lung	lung
5	chr8:118970800-118989000	Weak transcription	HUVEC	blood vessel
6	chr8:118971600-118993000	Weak transcription	Psoas Muscle	Psoas
7	chr8:118971800-118981800	Weak transcription	NH-A	brain
8	chr8:118971800-118983200	Weak transcription	Pancreas	Pancrea
9	chr8:118971800-118989000	Weak transcription	Ovary	ovary
10	chr8:118972000-118989600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr8:118972200-118981800	Weak transcription	Aorta	Aorta
12	chr8:118972200-118989600	Weak transcription	HSMM	muscle
13	chr8:118972200-118997000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:118973400-118981600	Weak transcription	HMEC	breast
15	chr8:118973400-118982000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:118973400-118982000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:118973600-118981200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:118973600-118981600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:118974400-118981600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr8:118974400-118982000	Weak transcription	Fetal Intestine Large	intestine
21	chr8:118974600-118987800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr8:118975400-118983200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr8:118975400-118992400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:118975800-118981200	Weak transcription	NHEK	skin
25	chr8:118975800-118981600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:118976000-118981800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:118976000-118981800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:118976600-118981800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr8:118976600-118991000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr8:118976800-118981600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr8:118976800-118988600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr8:118977200-118983200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:118977600-118981600	Weak transcription	Osteobl	bone
34	chr8:118977800-118981800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr8:118977800-118981800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr8:118978200-118992000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:118978600-118981800	Weak transcription	A549	lung
38	chr8:118978600-118993000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr8:118978800-118982000	Weak transcription	Small Intestine	intestine
40	chr8:118979000-118991000	Weak transcription	HepG2	liver
41	chr8:118979200-118981600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:118979200-118981800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:118979200-118988000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr8:118979400-118981800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr8:118979400-118983000	Weak transcription	NHLF	lung
46	chr8:118979400-118987000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr8:118979600-118981600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:118979600-118981800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr8:118980000-118981800	Weak transcription	Primary T cells from cord blood	blood
50	chr8:118980000-118982000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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