Variant report

Variant	esv1818798
Chromosome Location	chr8:105125672-105155544
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:104761856..104762718-chr8:105142470..105143058,2	MCF-7	breast:
2	chr8:104808988..104809567-chr8:105142388..105143010,2	MCF-7	breast:
3	chr8:105153535..105155055-chr8:105174946..105177136,2	MCF-7	breast:
4	chr8:104807876..104808412-chr8:105142129..105143128,2	K562	blood:
5	chr8:104807373..104809649-chr8:105142104..105143087,16	MCF-7	breast:
6	chr8:104776697..104777502-chr8:105142088..105142615,2	K562	blood:
7	chr8:104719235..104720149-chr8:105142112..105143028,4	MCF-7	breast:
8	chr8:104718269..104720075-chr8:105140265..105142046,2	MCF-7	breast:
9	chr19:35402456..35403352-chr8:105139491..105140129,2	MCF-7	breast:
10	chr8:105142189..105143073-chr8:105430071..105430902,5	MCF-7	breast:
11	chr8:104775882..104776978-chr8:105142360..105143119,4	MCF-7	breast:
12	chr8:105120104..105122651-chr8:105125459..105127123,2	K562	blood:
13	chr8:104775998..104777146-chr8:105142053..105143087,6	MCF-7	breast:
14	chr8:105133539..105135724-chr8:105136660..105138373,2	MCF-7	breast:
15	chr8:105138025..105140468-chr8:105142058..105143910,2	K562	blood:
16	chr8:105133539..105135724-chr8:105136660..105138373,2	MCF-7	breast:
17	chr8:105138025..105140468-chr8:105142058..105143910,2	K562	blood:
18	chr8:105142223..105142821-chr8:105337869..105338754,2	MCF-7	breast:

No data

Extended variants
information (count: 1034 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:1034 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6994862	chr8:105125672-105125673	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562123089	chr8:105125719-105125720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184585375	chr8:105125750-105125751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7012965	chr8:105125754-105125755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs7013254	chr8:105125783-105125784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs189853550	chr8:105125850-105125851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546995429	chr8:105125878-105125879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs180826210	chr8:105125934-105125935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13276571	chr8:105125937-105125938	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs186221957	chr8:105125950-105125951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149686984	chr8:105125958-105125959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150423653	chr8:105125974-105125975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569481255	chr8:105126023-105126024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541542041	chr8:105126027-105126028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75537632	chr8:105126067-105126068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140674847	chr8:105126154-105126155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368203189	chr8:105126286-105126287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs80281990	chr8:105126287-105126288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76087139	chr8:105126313-105126314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540189014	chr8:105126320-105126321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558534660	chr8:105126333-105126334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373908546	chr8:105126346-105126347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190811140	chr8:105126365-105126366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367838295	chr8:105126372-105126373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs16870953	chr8:105126460-105126461	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs544342454	chr8:105126536-105126537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145787184	chr8:105126545-105126546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529876629	chr8:105126551-105126552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568331051	chr8:105126552-105126553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541639656	chr8:105126667-105126668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559989893	chr8:105126680-105126681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527582269	chr8:105126691-105126692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113556224	chr8:105126704-105126705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571652550	chr8:105126725-105126726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10955338	chr8:105126741-105126742	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs534433612	chr8:105126773-105126774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551081310	chr8:105126777-105126778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12335031	chr8:105126795-105126796	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs72683202	chr8:105126818-105126819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs75711688	chr8:105126928-105126929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4439090	chr8:105126973-105126974	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs142183797	chr8:105126992-105126993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79145522	chr8:105127009-105127010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562705733	chr8:105127011-105127012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28373733	chr8:105127033-105127034	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs576050685	chr8:105127076-105127077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576801326	chr8:105127101-105127102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537530700	chr8:105127161-105127162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556193584	chr8:105127173-105127174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs72685003	chr8:105127240-105127241	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Congenital diaphragmatic hernia	21525063	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Oral squamous cell carcinoma	21853135	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105115400-105150000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:105123200-105126600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:105126600-105126800	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr8:105127400-105127800	Enhancers	Brain Germinal Matrix	brain
5	chr8:105128000-105128400	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr8:105136600-105137200	Enhancers	Brain Germinal Matrix	brain
7	chr8:105136800-105137400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:105137000-105137400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr8:105138600-105139000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr8:105138600-105139200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:105139600-105140400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:105140400-105145400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:105142400-105142600	Enhancers	Brain Cingulate Gyrus	brain
14	chr8:105142400-105142800	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr8:105142400-105143000	Enhancers	Brain Hippocampus Middle	brain
16	chr8:105143800-105149200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:105145400-105145800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:105150000-105150200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:105150000-105150600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:105150600-105155600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:105151600-105160800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:105155200-105155800	Enhancers	A549	lung
23	chr8:105155200-105156400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:105155400-105156000	Enhancers	HMEC	breast
25	chr8:105155400-105156400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:105155400-105156800	Enhancers	NHEK	skin

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