Variant report

Variant	esv3322716
Chromosome Location	chr8:126045427-126047455
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:126046452-126046678	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:126028018..126030385-chr8:126043461..126046019,3	MCF-7	breast:
2	chr8:125548441..125550525-chr8:126045562..126047599,2	K562	blood:
3	chr8:126046373..126048492-chr8:126055636..126058261,2	K562	blood:

Variant related genes	Relation type
KIAA0196	TF binding region
ENSG00000104549	chromatin interactions

Extended variants
information (count: 74 )
Associated
traits (count: 140 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547708793	chr8:126045428-126045429	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs140165024	chr8:126045433-126045434	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs117038202	chr8:126045447-126045448	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs546162753	chr8:126045450-126045451	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs183505119	chr8:126045452-126045453	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs114806942	chr8:126045488-126045489	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs541811263	chr8:126045513-126045514	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs150317603	chr8:126045542-126045543	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs561223575	chr8:126045595-126045596	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs72720510	chr8:126045639-126045640	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs146466188	chr8:126045648-126045649	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs188446962	chr8:126045652-126045653	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs533287576	chr8:126045653-126045654	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs191323980	chr8:126045654-126045655	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs566398236	chr8:126045706-126045707	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs550072150	chr8:126045735-126045736	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs528478373	chr8:126045779-126045780	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs548134433	chr8:126045784-126045785	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs568259825	chr8:126045792-126045793	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs113736246	chr8:126045795-126045796	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs140662901	chr8:126045853-126045854	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs557564321	chr8:126045936-126045937	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs182633399	chr8:126045979-126045980	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs186608676	chr8:126046032-126046033	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553404522	chr8:126046051-126046052	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573536324	chr8:126046080-126046081	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535446213	chr8:126046129-126046130	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555393889	chr8:126046208-126046209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541826323	chr8:126046229-126046230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375273786	chr8:126046238-126046239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191444501	chr8:126046276-126046277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76974424	chr8:126046298-126046299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375113604	chr8:126046299-126046300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527991147	chr8:126046314-126046315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78361991	chr8:126046335-126046336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532212405	chr8:126046336-126046337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112177606	chr8:126046416-126046417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73346253	chr8:126046433-126046434	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs560021817	chr8:126046509-126046510	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs529145400	chr8:126046515-126046516	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs187562534	chr8:126046576-126046577	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs75470435	chr8:126046583-126046584	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs552631981	chr8:126046593-126046594	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs145801155	chr8:126046598-126046599	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs570984787	chr8:126046612-126046613	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs193113406	chr8:126046638-126046639	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs185167640	chr8:126046649-126046650	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs538746826	chr8:126046673-126046674	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs190098513	chr8:126046701-126046702	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551933355	chr8:126046702-126046703	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:140)

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

Chromatin state (count:192 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126013600-126052200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:126015400-126098000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:126019600-126071800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:126023600-126099000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr8:126028200-126072000	Strong transcription	Primary T helper cells PMA-I stimulated	--
6	chr8:126028400-126066200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:126028600-126097400	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr8:126028800-126072200	Strong transcription	Adipose Nuclei	Adipose
9	chr8:126029600-126066200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:126029800-126097400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr8:126029800-126103000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:126030600-126049800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr8:126031200-126058800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:126031800-126046400	Weak transcription	Colonic Mucosa	Colon
15	chr8:126031800-126049800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:126032000-126050000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:126032800-126050600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr8:126036400-126051200	Weak transcription	Small Intestine	intestine
19	chr8:126036800-126046800	Weak transcription	K562	blood
20	chr8:126036800-126050400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:126037400-126048400	Weak transcription	Fetal Kidney	kidney
22	chr8:126038800-126097200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr8:126039400-126064400	Strong transcription	Primary T cells from cord blood	blood
24	chr8:126039400-126072000	Strong transcription	Duodenum Mucosa	Duodenum
25	chr8:126039400-126091400	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr8:126039600-126052600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:126039600-126067200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:126039600-126071800	Strong transcription	Stomach Smooth Muscle	stomach
29	chr8:126040200-126053600	Strong transcription	Spleen	Spleen
30	chr8:126040400-126064400	Strong transcription	Fetal Muscle Leg	muscle
31	chr8:126040400-126064600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr8:126040600-126046800	Strong transcription	Fetal Intestine Small	intestine
33	chr8:126040600-126047800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr8:126040800-126051400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr8:126041000-126047800	Weak transcription	Ovary	ovary
36	chr8:126041800-126045600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:126042200-126045600	Strong transcription	Fetal Stomach	stomach
38	chr8:126042200-126052400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr8:126042200-126053200	Strong transcription	Thymus	Thymus
40	chr8:126042200-126084000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:126042400-126052400	Strong transcription	Left Ventricle	heart
42	chr8:126042400-126096800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr8:126042600-126045600	Strong transcription	NHLF	lung
44	chr8:126042600-126050000	Weak transcription	Psoas Muscle	Psoas
45	chr8:126042600-126052200	Weak transcription	Fetal Heart	heart
46	chr8:126042600-126064200	Strong transcription	Fetal Muscle Trunk	muscle
47	chr8:126042600-126098600	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr8:126042600-126098800	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr8:126042800-126071800	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr8:126042800-126072600	Strong transcription	Rectal Mucosa Donor 31	rectum

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