Variant report

Variant	esv3443951
Chromosome Location	chr8:119056502-119056819
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	chr8:119056176..119058888-chr8:119122445..119124077,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182197	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558860051	chr8:119056565-119056566	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs539371629	chr8:119056577-119056578	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs185843599	chr8:119056635-119056636	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs76764432	chr8:119056650-119056651	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs547940900	chr8:119056651-119056652	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs79244945	chr8:119056662-119056663	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs188171197	chr8:119056720-119056721	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs139792419	chr8:119056729-119056730	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs574409145	chr8:119056737-119056738	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs113027673	chr8:119056739-119056740	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs541987203	chr8:119056749-119056750	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs181058762	chr8:119056750-119056751	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs386729132	chr8:119056794-119056795	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs369104911	chr8:119056795-119056796	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs17505527	chr8:119056796-119056797	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs13271950	chr8:119056803-119056804	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs547326754	chr8:119056804-119056805	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119044600-119056600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:119047000-119061000	Weak transcription	Primary T cells from cord blood	blood
3	chr8:119047200-119060400	Weak transcription	Stomach Mucosa	stomach
4	chr8:119047600-119059000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:119048600-119063800	Weak transcription	HSMMtube	muscle
6	chr8:119049000-119058600	Weak transcription	NH-A	brain
7	chr8:119049200-119057000	Weak transcription	Fetal Intestine Small	intestine
8	chr8:119049200-119058400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:119049200-119058800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:119049400-119057800	Enhancers	Liver	Liver
11	chr8:119049400-119059200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr8:119049600-119058400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:119049600-119059000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr8:119049600-119061600	Weak transcription	Esophagus	oesophagus
15	chr8:119049800-119058400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:119049800-119058400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:119049800-119060000	Weak transcription	HSMM	muscle
18	chr8:119050000-119060400	Weak transcription	A549	lung
19	chr8:119050400-119058400	Weak transcription	Pancreas	Pancrea
20	chr8:119051000-119059400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:119051000-119061600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:119051200-119058600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:119051200-119058600	Weak transcription	NHLF	lung
24	chr8:119053000-119059800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr8:119053200-119057000	Weak transcription	Fetal Lung	lung
26	chr8:119053400-119058400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:119053600-119057200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:119053800-119059600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:119054600-119058400	Weak transcription	Lung	lung
30	chr8:119054800-119058400	Weak transcription	Ovary	ovary
31	chr8:119055200-119059000	Weak transcription	Osteobl	bone
32	chr8:119055200-119059200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr8:119055200-119061600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr8:119055200-119065400	Weak transcription	HepG2	liver
35	chr8:119055400-119058400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr8:119055400-119059200	Weak transcription	Small Intestine	intestine
37	chr8:119055400-119061600	Weak transcription	Fetal Muscle Leg	muscle
38	chr8:119055400-119061600	Weak transcription	Right Atrium	heart
39	chr8:119055600-119057000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr8:119055600-119057800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:119055600-119058200	Weak transcription	Left Ventricle	heart
42	chr8:119055600-119060600	Weak transcription	NHEK	skin
43	chr8:119055800-119060400	Weak transcription	HMEC	breast
44	chr8:119055800-119061000	Weak transcription	Colon Smooth Muscle	Colon
45	chr8:119056000-119057000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:119056000-119058400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:119056000-119058400	Weak transcription	Aorta	Aorta
48	chr8:119056000-119058600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr8:119056000-119058600	Weak transcription	Psoas Muscle	Psoas
50	chr8:119056000-119058800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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