Variant report

Variant	esv275160
Chromosome Location	chr8:125755750-125761165
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125760144..125761703-chr8:125762855..125765412,2	MCF-7	breast:
2	chr8:125760544..125764834-chr8:125765682..125769658,5	MCF-7	breast:
3	chr8:125739372..125742267-chr8:125758626..125761632,3	MCF-7	breast:
4	chr8:125758805..125762963-chr8:125825866..125829295,4	K562	blood:
5	chr8:125759783..125761940-chr8:125763482..125765437,3	K562	blood:
6	chr8:125760489..125763327-chr8:125826229..125828714,2	K562	blood:
7	chr8:125750583..125752595-chr8:125760050..125762806,2	K562	blood:
8	chr8:125759234..125761898-chr8:125763537..125765246,2	K562	blood:
9	chr8:125761135..125763441-chr8:126050388..126052207,2	K562	blood:
10	chr8:125755220..125757743-chr8:125826134..125827699,2	MCF-7	breast:
11	chr8:125751576..125753119-chr8:125754133..125756960,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255491	chromatin interactions
ENSG00000170873	chromatin interactions

Extended variants
information (count: 266 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7459793	chr8:125755750-125755751	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571047509	chr8:125755777-125755778	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs533631937	chr8:125755837-125755838	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs35656960	chr8:125755882-125755883	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs145705503	chr8:125755963-125755964	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs77988013	chr8:125755977-125755978	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs34273247	chr8:125755985-125755986	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs554315827	chr8:125755994-125755995	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs200136649	chr8:125755998-125755999	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs35360670	chr8:125756010-125756011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4446720	chr8:125756012-125756013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367743177	chr8:125756014-125756015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35255062	chr8:125756026-125756027	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs113502989	chr8:125756122-125756123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192255480	chr8:125756123-125756124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553804024	chr8:125756126-125756127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs4310191	chr8:125756134-125756135	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs370096626	chr8:125756220-125756221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140441524	chr8:125756243-125756244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542433708	chr8:125756258-125756259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62528821	chr8:125756259-125756260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201995931	chr8:125756261-125756262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200035425	chr8:125756262-125756263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200928269	chr8:125756263-125756264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10087913	chr8:125756372-125756373	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs117012918	chr8:125756376-125756377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553005449	chr8:125756380-125756381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12546316	chr8:125756406-125756407	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs184586674	chr8:125756407-125756408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372622589	chr8:125756439-125756440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34159935	chr8:125756440-125756441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34961893	chr8:125756441-125756442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375881624	chr8:125756442-125756443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34234274	chr8:125756443-125756444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545268747	chr8:125756457-125756458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115284816	chr8:125756460-125756461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376395084	chr8:125756462-125756463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547235596	chr8:125756469-125756470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370478023	chr8:125756504-125756505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs386360960	chr8:125756513-125756514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201577916	chr8:125756514-125756515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199712474	chr8:125756518-125756519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs57070912	chr8:125756529-125756530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs58625363	chr8:125756533-125756534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528838125	chr8:125756550-125756551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147699308	chr8:125756572-125756573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556974321	chr8:125756583-125756584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189452151	chr8:125756588-125756589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199659151	chr8:125756648-125756649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530357801	chr8:125756679-125756680	Weak transcription Enhancers	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
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	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	17603634	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
Acute myeloid leukemia	20729466	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
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
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	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
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16461302	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21611746	CNVD
Ductal carcinoma	22052326	CNVD
Gastric cancer	18160780	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125752800-125756200	Enhancers	Fetal Intestine Small	intestine
2	chr8:125754000-125756200	Enhancers	Fetal Intestine Large	intestine
3	chr8:125755000-125756000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:125755000-125756000	Enhancers	Pancreas	Pancrea
5	chr8:125755200-125756000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:125755200-125756000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:125755200-125756000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:125755200-125756000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:125755200-125756000	Flanking Active TSS	HepG2	liver
10	chr8:125755200-125756000	Enhancers	HMEC	breast
11	chr8:125755200-125756000	Enhancers	HUVEC	blood vessel
12	chr8:125755200-125756000	Enhancers	Osteobl	bone
13	chr8:125755400-125755800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:125755400-125755800	Enhancers	NH-A	brain
15	chr8:125755400-125755800	Enhancers	NHDF-Ad	bronchial
16	chr8:125755400-125755800	Enhancers	NHEK	skin
17	chr8:125755400-125756000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr8:125755400-125756000	Enhancers	Stomach Smooth Muscle	stomach
19	chr8:125755600-125755800	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr8:125755600-125756000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr8:125755600-125756200	Enhancers	Liver	Liver
22	chr8:125755600-125761000	Weak transcription	Stomach Mucosa	stomach
23	chr8:125756000-125761000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:125756000-125761000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr8:125756000-125763800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:125756000-125763800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:125756000-125763800	Weak transcription	Osteobl	bone
28	chr8:125756200-125760800	Weak transcription	Fetal Intestine Small	intestine
29	chr8:125756200-125761000	Weak transcription	Fetal Intestine Large	intestine
30	chr8:125756600-125757400	Enhancers	Fetal Heart	heart
31	chr8:125757400-125759800	Weak transcription	Fetal Heart	heart
32	chr8:125759800-125760000	Weak transcription	Esophagus	oesophagus
33	chr8:125759800-125764800	Enhancers	Fetal Heart	heart
34	chr8:125760000-125760200	Enhancers	Esophagus	oesophagus
35	chr8:125760000-125761400	Weak transcription	Right Atrium	heart
36	chr8:125760200-125761200	Weak transcription	Esophagus	oesophagus
37	chr8:125760400-125764600	Enhancers	K562	blood
38	chr8:125760800-125761800	Enhancers	Fetal Intestine Small	intestine
39	chr8:125760800-125762800	Weak transcription	Primary B cells from cord blood	blood
40	chr8:125761000-125761400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:125761000-125761600	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr8:125761000-125762000	Enhancers	Stomach Mucosa	stomach

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