Variant report

Variant	esv3384288
Chromosome Location	chr8:125350820-125377284
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:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125348366..125351032-chr8:125352603..125355350,3	K562	blood:
2	chr8:125311034..125312561-chr8:125362533..125365224,2	K562	blood:
3	chr8:125357308..125361661-chr8:125382633..125386691,6	MCF-7	breast:
4	chr8:125348366..125351032-chr8:125353467..125355350,2	K562	blood:
5	chr8:125371550..125374113-chr8:125379981..125382603,2	MCF-7	breast:
6	chr8:125366683..125371007-chr8:125384186..125388697,5	K562	blood:
7	chr8:125357705..125360687-chr8:125362557..125365211,4	K562	blood:
8	chr8:125357388..125359258-chr8:125359520..125361729,2	K562	blood:
9	chr8:125353704..125355913-chr8:125356266..125359505,3	MCF-7	breast:
10	chr8:125343485..125345851-chr8:125355810..125358693,2	MCF-7	breast:
11	chr8:125348366..125351032-chr8:125353467..125355350,2	K562	blood:
12	chr8:125357705..125360687-chr8:125362557..125365211,4	K562	blood:
13	chr8:125353704..125355913-chr8:125356266..125359505,3	MCF-7	breast:
14	chr8:125366370..125371248-chr8:125383154..125386121,6	MCF-7	breast:
15	chr8:125349010..125350825-chr8:125354672..125357110,2	MCF-7	breast:
16	chr8:125373697..125375415-chr8:125381525..125384345,2	MCF-7	breast:
17	chr8:125363535..125365939-chr8:125365968..125368194,2	K562	blood:
18	chr8:125345830..125347942-chr8:125350849..125353418,2	MCF-7	breast:
19	chr8:125349812..125351623-chr8:125383441..125385369,2	MCF-7	breast:
20	chr8:125363535..125365939-chr8:125365968..125368194,2	K562	blood:
21	chr3:49057558..49059762-chr8:125368622..125371309,2	MCF-7	breast:
22	chr8:125357388..125359258-chr8:125359520..125361729,2	K562	blood:
23	chr8:125359878..125362922-chr8:125366804..125368717,4	K562	blood:
24	chr8:125366912..125369659-chr8:125371312..125373156,2	K562	blood:
25	chr8:125366767..125369053-chr8:125379214..125381905,2	K562	blood:
26	chr8:125349010..125350825-chr8:125354672..125357110,2	MCF-7	breast:
27	chr8:125366977..125369819-chr8:125389166..125390857,2	K562	blood:
28	chr8:125348366..125351032-chr8:125352603..125355350,3	K562	blood:
29	chr8:125366912..125369659-chr8:125371312..125373156,2	K562	blood:
30	chr8:125282103..125284390-chr8:125377219..125378922,2	MCF-7	breast:
31	chr8:125366347..125368415-chr8:125380893..125382966,2	MCF-7	breast:
32	chr8:125375411..125378437-chr8:125382483..125385069,3	K562	blood:
33	chr8:125212588..125215990-chr8:125362115..125365671,3	MCF-7	breast:
34	chr8:125340865..125342625-chr8:125376929..125379138,2	MCF-7	breast:
35	chr8:125340663..125343070-chr8:125358970..125360934,2	K562	blood:
36	chr8:125359878..125362922-chr8:125366804..125368717,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000199032	chromatin interactions
ENSG00000164983	chromatin interactions
ENSG00000207605	chromatin interactions
ENSG00000253227	chromatin interactions
ENSG00000178149	chromatin interactions
ENSG00000178057	chromatin interactions

Extended variants
information (count: 886 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:886 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537104160	chr8:125350862-125350863	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs554524960	chr8:125350865-125350866	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs556960529	chr8:125350894-125350895	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs536333723	chr8:125350982-125350983	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs148286171	chr8:125351023-125351024	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs544938915	chr8:125351095-125351096	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs570185422	chr8:125351122-125351123	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs565012969	chr8:125351143-125351144	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs572253039	chr8:125351174-125351175	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs13438951	chr8:125351231-125351232	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs113771385	chr8:125351259-125351260	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs113782274	chr8:125351289-125351290	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs561097443	chr8:125351322-125351323	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs141419489	chr8:125351361-125351362	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs549867667	chr8:125351367-125351368	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs113989539	chr8:125351370-125351371	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs532122632	chr8:125351375-125351376	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs552877655	chr8:125351428-125351429	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs71289657	chr8:125351463-125351464	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs371801095	chr8:125351465-125351466	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs372341396	chr8:125351477-125351478	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs7461979	chr8:125351489-125351490	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs566231373	chr8:125351511-125351512	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs11320495	chr8:125351607-125351608	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs145660455	chr8:125351654-125351655	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548498618	chr8:125351665-125351666	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555877220	chr8:125351679-125351680	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568612792	chr8:125351692-125351693	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537167603	chr8:125351699-125351700	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557021831	chr8:125351706-125351707	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138314900	chr8:125351752-125351753	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539444504	chr8:125351833-125351834	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111670542	chr8:125351871-125351872	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186530388	chr8:125351916-125351917	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541290897	chr8:125351929-125351930	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560940033	chr8:125351941-125351942	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574669095	chr8:125351942-125351943	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543570476	chr8:125351954-125351955	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563366386	chr8:125352023-125352024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535082838	chr8:125352094-125352095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111956737	chr8:125352101-125352102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532182106	chr8:125352102-125352103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373975189	chr8:125352172-125352173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145989946	chr8:125352199-125352200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559252356	chr8:125352205-125352206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528806732	chr8:125352292-125352293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548830467	chr8:125352294-125352295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576123920	chr8:125352391-125352392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538599842	chr8:125352456-125352457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550710082	chr8:125352495-125352496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:141)

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
Prostate cancer	22341455	CNVD

Chromatin state (count:577 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125332000-125352800	Weak transcription	Fetal Lung	lung
2	chr8:125332400-125351000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:125334200-125364000	Weak transcription	HUVEC	blood vessel
4	chr8:125346400-125354000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:125346400-125361000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr8:125346400-125368200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:125346600-125352600	Weak transcription	Fetal Heart	heart
8	chr8:125347200-125356400	Weak transcription	HSMMtube	muscle
9	chr8:125350000-125351600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:125350800-125351000	Enhancers	A549	lung
11	chr8:125351000-125351400	Weak transcription	A549	lung
12	chr8:125351000-125352000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
13	chr8:125351400-125354600	Enhancers	A549	lung
14	chr8:125351600-125351800	Enhancers	Colon Smooth Muscle	Colon
15	chr8:125351600-125352000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:125352000-125352200	Enhancers	Right Ventricle	heart
17	chr8:125352000-125352600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:125352000-125354200	Weak transcription	Colon Smooth Muscle	Colon
19	chr8:125352000-125354600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:125352000-125354800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:125352000-125366400	Weak transcription	Primary T cells from cord blood	blood
22	chr8:125352200-125357200	Weak transcription	Right Ventricle	heart
23	chr8:125352400-125354200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:125352600-125352800	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr8:125352600-125353000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:125352600-125358400	Enhancers	Fetal Heart	heart
27	chr8:125352800-125353000	Enhancers	HSMM	muscle
28	chr8:125352800-125353200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr8:125352800-125353400	Enhancers	Fetal Lung	lung
30	chr8:125353000-125353200	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr8:125353000-125353200	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr8:125353000-125353600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:125353000-125376200	Weak transcription	HSMM	muscle
34	chr8:125353200-125353600	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr8:125353200-125364200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr8:125353200-125364800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:125353400-125354400	Weak transcription	Fetal Lung	lung
38	chr8:125353600-125353800	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr8:125353600-125354600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr8:125353600-125357600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:125353800-125354400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr8:125354000-125357800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr8:125354200-125355000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:125354200-125355200	Enhancers	Colon Smooth Muscle	Colon
45	chr8:125354400-125354600	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr8:125354400-125355200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:125354400-125355600	Enhancers	Fetal Lung	lung
48	chr8:125354600-125354800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr8:125354600-125355600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:125354600-125356800	Enhancers	Pancreatic Islets	Pancreatic Islet

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