Variant report

Variant	esv19075
Chromosome Location	chr8:105015114-105025274
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:43298446..43300680-chr8:105016509..105018812,2	MCF-7	breast:
2	chr8:105017671..105019829-chr8:105023153..105025730,2	K562	blood:
3	chr8:105017671..105019829-chr8:105023153..105025730,2	K562	blood:
4	chr7:104653295..104654961-chr8:105016847..105019762,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228393	chromatin interactions
ENSG00000005483	chromatin interactions
ENSG00000239569	chromatin interactions
ENSG00000141956	chromatin interactions

Extended variants
information (count: 339 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:339 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184045657	chr8:105015175-105015176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559702739	chr8:105015178-105015179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72683135	chr8:105015186-105015187	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs76158478	chr8:105015200-105015201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564536101	chr8:105015373-105015374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114131544	chr8:105015396-105015397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549907170	chr8:105015419-105015420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561897805	chr8:105015443-105015444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186886567	chr8:105015480-105015481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564789440	chr8:105015488-105015489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145930261	chr8:105015499-105015500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191472958	chr8:105015540-105015541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183740421	chr8:105015552-105015553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551081692	chr8:105015554-105015555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139825693	chr8:105015566-105015567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187019833	chr8:105015575-105015576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533320290	chr8:105015619-105015620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76665179	chr8:105015645-105015646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77934434	chr8:105015646-105015647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs56779976	chr8:105015659-105015660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs118094642	chr8:105015677-105015678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539833841	chr8:105015735-105015736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191794725	chr8:105015748-105015749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553157558	chr8:105015843-105015844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577841845	chr8:105015862-105015863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367767364	chr8:105015884-105015885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545324511	chr8:105015952-105015953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557862676	chr8:105016020-105016021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182284123	chr8:105016041-105016042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6993567	chr8:105016079-105016080	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs55831990	chr8:105016090-105016091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs529418995	chr8:105016098-105016099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6993954	chr8:105016131-105016132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541211734	chr8:105016165-105016166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559938688	chr8:105016284-105016285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533456626	chr8:105016302-105016303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375305969	chr8:105016308-105016309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552055401	chr8:105016361-105016362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569511634	chr8:105016365-105016366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs386728434	chr8:105016407-105016408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73699050	chr8:105016408-105016409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs567344797	chr8:105016459-105016460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367920926	chr8:105016494-105016495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs56370807	chr8:105016502-105016503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552880439	chr8:105016572-105016573	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs73699051	chr8:105016580-105016581	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs538509469	chr8:105016582-105016583	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs186948224	chr8:105016597-105016598	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs563212293	chr8:105016605-105016606	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs547182897	chr8:105016606-105016607	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
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
Sezary syndrome	18413736	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105002400-105025600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:105019200-105040400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr8:105019400-105022600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:105021600-105022000	Enhancers	Brain Hippocampus Middle	brain
5	chr8:105021800-105025200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:105022000-105022200	Active TSS	Brain Hippocampus Middle	brain
7	chr8:105022000-105022200	Enhancers	Brain Substantia Nigra	brain
8	chr8:105022000-105022600	Enhancers	Brain Angular Gyrus	brain
9	chr8:105022000-105024200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr8:105022200-105022400	Flanking Active TSS	Brain Hippocampus Middle	brain
11	chr8:105022200-105022600	Active TSS	Brain Anterior Caudate	brain
12	chr8:105022200-105022600	Active TSS	Brain Cingulate Gyrus	brain
13	chr8:105022200-105022600	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr8:105022200-105022600	Active TSS	Brain Substantia Nigra	brain
15	chr8:105022200-105022800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr8:105022200-105023400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr8:105022200-105023400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr8:105022400-105022800	Active TSS	Brain Hippocampus Middle	brain
19	chr8:105022600-105023000	Weak transcription	Brain Angular Gyrus	brain
20	chr8:105022600-105023000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr8:105022600-105023400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr8:105022600-105023600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr8:105022800-105023600	Enhancers	Brain Hippocampus Middle	brain
24	chr8:105022800-105042400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr8:105023000-105023400	Enhancers	Brain Angular Gyrus	brain
26	chr8:105023000-105023600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:105023000-105023600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:105023000-105023600	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr8:105023200-105023400	Enhancers	Brain Substantia Nigra	brain
30	chr8:105023400-105023600	Enhancers	Brain Anterior Caudate	brain
31	chr8:105023400-105025200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr8:105024400-105041000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:105025000-105027200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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