Variant report

Variant	esv3419270
Chromosome Location	chr8:19137172-19140670
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 177 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187480060	chr8:19137206-19137207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192290796	chr8:19137256-19137257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542812090	chr8:19137275-19137276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554370951	chr8:19137286-19137287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563210453	chr8:19137324-19137325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183296001	chr8:19137330-19137331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111520189	chr8:19137339-19137340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371765436	chr8:19137351-19137352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs117731446	chr8:19137369-19137370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148163739	chr8:19137400-19137401	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs141864753	chr8:19137464-19137465	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs187979227	chr8:19137470-19137471	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs151314633	chr8:19137484-19137485	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs571524841	chr8:19137486-19137487	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs556059770	chr8:19137533-19137534	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs2410608	chr8:19137542-19137543	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs150602532	chr8:19137548-19137549	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs558168677	chr8:19137558-19137559	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs115060761	chr8:19137560-19137561	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs184388651	chr8:19137624-19137625	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs554656771	chr8:19137630-19137631	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs116749849	chr8:19137673-19137674	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs373282988	chr8:19137675-19137676	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs75217338	chr8:19137682-19137683	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs376425763	chr8:19137717-19137718	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs138813665	chr8:19137725-19137726	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs576842806	chr8:19137731-19137732	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs189667434	chr8:19137737-19137738	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs2683284	chr8:19137742-19137743	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs565531902	chr8:19137752-19137753	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs142012706	chr8:19137772-19137773	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs80210291	chr8:19137786-19137787	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs561457151	chr8:19137803-19137804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79125847	chr8:19137820-19137821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373033154	chr8:19137892-19137893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553003527	chr8:19137903-19137904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192702068	chr8:19137932-19137933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569508402	chr8:19137950-19137951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35310478	chr8:19137954-19137955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184135510	chr8:19137974-19137975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552053723	chr8:19137993-19137994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565596484	chr8:19138013-19138014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117632535	chr8:19138015-19138016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146326829	chr8:19138026-19138027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77869994	chr8:19138037-19138038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536732187	chr8:19138047-19138048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556756570	chr8:19138055-19138056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139937222	chr8:19138057-19138058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370651466	chr8:19138068-19138069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545578872	chr8:19138110-19138111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Epilepsy	22083797	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17603634	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	18840272	CNVD
Breast cancer	19602461	CNVD
Osteosarcoma	19286668	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	19258508	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
small cell lung cancer	20016488	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Gastric adenocarcinoma	19115996	CNVD
Colorectal cancer	19455253	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19131800-19137400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:19132000-19137400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:19132000-19143600	Weak transcription	Gastric	stomach
4	chr8:19135000-19137400	Enhancers	HepG2	liver
5	chr8:19136200-19137200	Weak transcription	Fetal Intestine Large	intestine
6	chr8:19136600-19137400	Weak transcription	Pancreas	Pancrea
7	chr8:19136600-19138400	Enhancers	Liver	Liver
8	chr8:19137000-19138800	Enhancers	Fetal Intestine Small	intestine
9	chr8:19137200-19138400	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr8:19137200-19138600	Enhancers	Fetal Intestine Large	intestine
11	chr8:19137400-19137600	Enhancers	Pancreas	Pancrea
12	chr8:19137400-19137800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:19137400-19137800	Enhancers	Duodenum Mucosa	Duodenum
14	chr8:19137400-19137800	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr8:19137400-19137800	Bivalent Enhancer	Small Intestine	intestine
16	chr8:19137400-19137800	Flanking Active TSS	HepG2	liver
17	chr8:19137400-19138200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr8:19137800-19138800	Enhancers	HepG2	liver
19	chr8:19138400-19139800	Weak transcription	Liver	Liver
20	chr8:19138400-19148800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:19139400-19139800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:19139800-19140400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:19139800-19141400	Enhancers	Liver	Liver
24	chr8:19140400-19146000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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