Variant report

Variant	esv3479985
Chromosome Location	chr8:126284808-126285193
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126272432..126274189-chr8:126283876..126286401,2	MCF-7	breast:
2	chr8:126282715..126285336-chr8:126442503..126444209,2	MCF-7	breast:
3	chr8:126283799..126286168-chr8:126444764..126446499,2	MCF-7	breast:
4	chr8:126283879..126287098-chr8:126289140..126291457,3	K562	blood:
5	chr8:126271453..126274338-chr8:126284581..126287313,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	chromatin interactions

Extended variants
information (count: 49 )
Associated
traits (count: 146 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551336888	chr8:126284808-126284809	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs199926006	chr8:126284872-126284873	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs531305859	chr8:126284874-126284875	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs551092365	chr8:126284891-126284892	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs376902112	chr8:126284898-126284899	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs371825709	chr8:126284917-126284918	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs10635586	chr8:126284941-126284942	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs35820922	chr8:126284942-126284943	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs386413919	chr8:126284951-126284952	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs397765906	chr8:126284958-126284959	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs200342031	chr8:126284959-126284960	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs201132241	chr8:126284960-126284961	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs71510323	chr8:126284970-126284971	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs149149723	chr8:126284972-126284973	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs71295830	chr8:126284982-126284983	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs564524788	chr8:126284983-126284984	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs113373442	chr8:126284990-126284991	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs189239219	chr8:126284996-126284997	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs374934126	chr8:126284998-126284999	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs547347110	chr8:126284999-126285000	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs571144191	chr8:126285000-126285001	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs540097058	chr8:126285001-126285002	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs181777622	chr8:126285008-126285009	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs553305747	chr8:126285019-126285020	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs4339663	chr8:126285034-126285035	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs538319909	chr8:126285036-126285037	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs558317373	chr8:126285046-126285047	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs370136847	chr8:126285047-126285048	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs578044909	chr8:126285053-126285054	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs534217437	chr8:126285054-126285055	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs143282449	chr8:126285064-126285065	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs549916341	chr8:126285068-126285069	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs574282158	chr8:126285070-126285071	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs543000539	chr8:126285083-126285084	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs199572839	chr8:126285088-126285089	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs36097485	chr8:126285089-126285090	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs55804496	chr8:126285100-126285101	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs4367569	chr8:126285106-126285107	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs77598495	chr8:126285107-126285108	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs567013018	chr8:126285112-126285113	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs544671698	chr8:126285118-126285119	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs184891399	chr8:126285119-126285120	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs74636722	chr8:126285127-126285128	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs527239776	chr8:126285138-126285139	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs534420287	chr8:126285154-126285155	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs371248841	chr8:126285161-126285162	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs201338493	chr8:126285164-126285165	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs189735942	chr8:126285176-126285177	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs554239084	chr8:126285187-126285188	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:146)

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
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
Cancer	20164919	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Ovarian cancer	21240255	CNVD
Glioma	20126413	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126255400-126287800	Weak transcription	Primary B cells from cord blood	blood
2	chr8:126261400-126286000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:126262200-126288200	Weak transcription	Ovary	ovary
4	chr8:126264800-126310600	Weak transcription	Aorta	Aorta
5	chr8:126265600-126296600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:126273600-126285200	Weak transcription	Stomach Mucosa	stomach
7	chr8:126275600-126285200	Weak transcription	Primary T cells from cord blood	blood
8	chr8:126275600-126286000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:126275800-126289000	Weak transcription	Dnd41	blood
10	chr8:126276800-126285800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:126276800-126286000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:126277000-126285400	Weak transcription	Thymus	Thymus
13	chr8:126277000-126285800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr8:126278000-126286000	Weak transcription	Fetal Thymus	thymus
15	chr8:126278400-126285200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:126280000-126289800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:126280200-126285200	Weak transcription	Right Atrium	heart
18	chr8:126281200-126285200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr8:126281200-126285400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr8:126281400-126285200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr8:126281400-126285200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr8:126281600-126285200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:126281600-126285200	Weak transcription	Esophagus	oesophagus
24	chr8:126281600-126286000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr8:126282800-126286200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr8:126283000-126285000	Weak transcription	Psoas Muscle	Psoas
27	chr8:126283000-126285200	Weak transcription	Left Ventricle	heart
28	chr8:126283400-126286400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr8:126283400-126286800	Enhancers	HMEC	breast
30	chr8:126283400-126287000	Enhancers	Fetal Intestine Large	intestine
31	chr8:126283400-126288000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:126283400-126292600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr8:126283600-126286400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:126283600-126286400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr8:126283600-126286600	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr8:126283600-126286800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr8:126283600-126287600	Enhancers	Fetal Intestine Small	intestine
38	chr8:126283600-126288000	Enhancers	NHEK	skin
39	chr8:126283800-126286000	Weak transcription	Brain Hippocampus Middle	brain
40	chr8:126283800-126286400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr8:126283800-126286400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:126283800-126287600	Weak transcription	Brain Substantia Nigra	brain
43	chr8:126284000-126285200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:126284000-126285200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:126284000-126285200	Weak transcription	Fetal Muscle Leg	muscle
46	chr8:126284000-126285200	Weak transcription	HSMM	muscle
47	chr8:126284000-126285800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr8:126284000-126286600	Enhancers	Duodenum Mucosa	Duodenum
49	chr8:126284000-126286800	Enhancers	K562	blood
50	chr8:126284200-126285200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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