Variant report

Variant	esv275091
Chromosome Location	chr8:125430760-125437615
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:125264004..125264586-chr8:125437582..125438226,3	MCF-7	breast:
2	chr8:125042083..125044005-chr8:125437256..125439474,39	MCF-7	breast:
3	chr8:125383681..125384360-chr8:125437557..125438176,2	MCF-7	breast:
4	chr8:125430987..125433174-chr8:125436627..125439143,3	MCF-7	breast:
5	chr20:62751422..62752008-chr8:125431320..125431892,2	MCF-7	breast:
6	chr8:125042055..125045279-chr8:125436777..125440120,5	MCF-7	breast:
7	chr8:125384155..125386157-chr8:125434742..125436932,2	MCF-7	breast:
8	chr8:125430987..125433174-chr8:125436627..125439143,3	MCF-7	breast:
9	chr8:125278702..125279580-chr8:125437290..125438183,3	MCF-7	breast:
10	chr8:125429633..125432443-chr8:125437672..125439432,2	MCF-7	breast:
11	chr8:125049391..125051074-chr8:125436877..125438920,32	MCF-7	breast:
12	chr8:125384717..125385328-chr8:125437196..125437888,2	MCF-7	breast:
13	chr8:125383286..125386252-chr8:125436659..125438778,3	MCF-7	breast:
14	chr8:125384917..125387292-chr8:125428430..125431299,2	MCF-7	breast:
15	chr8:124835572..124836282-chr8:125436805..125437752,2	K562	blood:
16	chr8:124830047..124831853-chr8:125435986..125438838,2	MCF-7	breast:
17	chr8:124834954..124835463-chr8:125437254..125438125,2	MCF-7	breast:
18	chr8:125049717..125050652-chr8:125437138..125438607,13	MCF-7	breast:
19	chr8:125278580..125279450-chr8:125437284..125438438,4	MCF-7	breast:
20	chr8:125437017..125439020-chr8:125452331..125453316,7	MCF-7	breast:
21	chr8:125389312..125391092-chr8:125434366..125436156,2	MCF-7	breast:
22	chr8:125049632..125050675-chr8:125437225..125438451,4	K562	blood:
23	chr8:125042341..125043357-chr8:125436901..125438570,10	MCF-7	breast:
24	chr8:124936696..124937514-chr8:125437550..125438454,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164983	chromatin interactions

Extended variants
information (count: 310 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:310 , 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	rs10956179	chr8:125430760-125430761	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs10956180	chr8:125430875-125430876	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs372635130	chr8:125430914-125430915	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs539233262	chr8:125430943-125430944	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs10956181	chr8:125430997-125430998	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs4871489	chr8:125431030-125431031	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs556192827	chr8:125431075-125431076	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs35095493	chr8:125431144-125431145	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs193197060	chr8:125431203-125431204	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs377745907	chr8:125431216-125431217	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs372409506	chr8:125431231-125431232	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs555291127	chr8:125431241-125431242	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs10111265	chr8:125431245-125431246	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs10111274	chr8:125431262-125431263	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs563610936	chr8:125431265-125431266	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs58539264	chr8:125431276-125431277	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs113219158	chr8:125431295-125431296	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs371420094	chr8:125431323-125431324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559904427	chr8:125431324-125431325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10111582	chr8:125431341-125431342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs369916998	chr8:125431380-125431381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568809145	chr8:125431394-125431395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530500618	chr8:125431459-125431460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10111705	chr8:125431468-125431469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs570421259	chr8:125431469-125431470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535521776	chr8:125431495-125431496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs36218513	chr8:125431565-125431566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs55846022	chr8:125431571-125431572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35480174	chr8:125431594-125431595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34858328	chr8:125431595-125431596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs386413898	chr8:125431596-125431597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56238829	chr8:125431597-125431598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140300383	chr8:125431607-125431608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149924466	chr8:125431616-125431617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34223117	chr8:125431618-125431619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10098613	chr8:125431629-125431630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs566329545	chr8:125431651-125431652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10098627	chr8:125431654-125431655	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs555227018	chr8:125431661-125431662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184650668	chr8:125431694-125431695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs117643650	chr8:125431715-125431716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142719850	chr8:125431728-125431729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577226386	chr8:125431732-125431733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546281273	chr8:125431738-125431739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35148464	chr8:125431755-125431756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs397934378	chr8:125431756-125431757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550395789	chr8:125431771-125431772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559637388	chr8:125431818-125431819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147377721	chr8:125431824-125431825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11993622	chr8:125431834-125431835	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125427200-125433800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr8:125430400-125431000	Enhancers	Fetal Heart	heart
3	chr8:125430600-125437800	Weak transcription	Left Ventricle	heart
4	chr8:125431000-125434400	Weak transcription	Fetal Heart	heart
5	chr8:125432200-125432400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:125433800-125435400	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr8:125434200-125435400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:125434400-125435000	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr8:125434400-125435000	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr8:125434400-125435200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr8:125434400-125435200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:125434400-125435200	Enhancers	Fetal Heart	heart
13	chr8:125434400-125438000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:125434600-125434800	Enhancers	Brain Germinal Matrix	brain
15	chr8:125434600-125435000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr8:125434600-125435000	Enhancers	Placenta	Placenta
17	chr8:125434600-125435000	Enhancers	Spleen	Spleen
18	chr8:125434600-125435000	Enhancers	HUVEC	blood vessel
19	chr8:125434600-125435000	Enhancers	K562	blood
20	chr8:125434600-125435000	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr8:125434600-125435200	Enhancers	Primary hematopoietic stem cells	blood
22	chr8:125434800-125435000	Enhancers	Fetal Intestine Small	intestine
23	chr8:125434800-125435000	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr8:125434800-125435200	Enhancers	Fetal Brain Female	brain
25	chr8:125434800-125435400	Enhancers	Fetal Brain Male	brain
26	chr8:125434800-125437600	Weak transcription	Brain Germinal Matrix	brain
27	chr8:125434800-125437800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:125435000-125437600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr8:125435000-125437600	Weak transcription	Placenta	Placenta
30	chr8:125435000-125437600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr8:125435000-125437600	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr8:125435000-125437800	Weak transcription	Fetal Intestine Small	intestine
33	chr8:125435000-125437800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr8:125435000-125437800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr8:125435000-125437800	Weak transcription	Spleen	Spleen
36	chr8:125435000-125437800	Weak transcription	HUVEC	blood vessel
37	chr8:125435000-125437800	Weak transcription	K562	blood
38	chr8:125435200-125437600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr8:125435200-125437600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:125435200-125437600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:125435200-125437600	Weak transcription	Fetal Brain Female	brain
42	chr8:125435200-125437800	Weak transcription	Fetal Heart	heart
43	chr8:125435400-125436400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:125435400-125437400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr8:125435400-125437600	Weak transcription	Fetal Brain Male	brain
46	chr8:125436400-125437600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr8:125436600-125436800	Enhancers	HSMM	muscle
48	chr8:125437400-125437600	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr8:125437400-125437600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr8:125437400-125437600	Enhancers	Brain Anterior Caudate	brain

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