Variant report

Variant	esv2760385
Chromosome Location	chr15:59506428-59513647
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	CTCF	chr15:59513320-59513373	Fibrobl	skin:	n/a	n/a
2	EP300	chr15:59511903-59512191	GM12878	blood:	n/a	n/a
3	FOS	chr15:59510342-59510785	HUVEC	blood vessel:	n/a	chr15:59510497-59510508
4	GATA2	chr15:59510048-59511159	HUVEC	blood vessel:	n/a	chr15:59510437-59510453 chr15:59510436-59510450 chr15:59510809-59510819
5	JUN	chr15:59510230-59510773	HUVEC	blood vessel:	n/a	n/a
6	MAFF	chr15:59507157-59507403	HepG2	liver:	n/a	chr15:59507320-59507338
7	MAFK	chr15:59507143-59507423	HepG2	liver:	n/a	n/a
8	MAFK	chr15:59507280-59507484	HepG2	liver:	n/a	n/a
9	MAZ	chr15:59508031-59508039	Hela-S3	cervix:	n/a	n/a
10	MYC	chr15:59510323-59510452	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr15:59513356-59513536	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr15:59510819-59511309	GM12878	blood:	n/a	n/a
13	POLR2A	chr15:59507847-59508428	GM12892	blood:	n/a	n/a
14	POLR2A	chr15:59510878-59511414	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr15:59510822-59511481	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr15:59511962-59512449	GM12878	blood:	n/a	n/a
17	POLR2A	chr15:59507861-59508481	GM12878	blood:	n/a	n/a
18	POLR2A	chr15:59512925-59513073	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr15:59509212-59509317	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr15:59510402-59510670	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr15:59513567-59514065	GM12891	blood:	n/a	n/a
22	POLR2A	chr15:59510355-59510394	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr15:59510794-59511397	GM12892	blood:	n/a	n/a
24	POLR2A	chr15:59510160-59510722	GM12891	blood:	n/a	n/a
25	POLR2A	chr15:59513357-59514208	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr15:59513554-59514138	GM12892	blood:	n/a	n/a
27	POLR2A	chr15:59507936-59508303	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr15:59511699-59512614	GM12892	blood:	n/a	n/a
29	POLR2A	chr15:59506840-59507127	GM12891	blood:	n/a	n/a
30	POLR2A	chr15:59512038-59512448	GM12891	blood:	n/a	n/a
31	POLR2A	chr15:59507951-59507966	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr15:59506683-59508544	GM12892	blood:	n/a	n/a
33	POLR2A	chr15:59509092-59509447	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr15:59508471-59508489	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr15:59508912-59509459	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr15:59507839-59508460	GM12891	blood:	n/a	n/a
37	POLR2A	chr15:59510053-59510695	GM12878	blood:	n/a	n/a
38	POLR2A	chr15:59506712-59506734	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr15:59510090-59510630	GM12892	blood:	n/a	n/a
40	POLR2A	chr15:59511978-59512465	GM12891	blood:	n/a	n/a
41	POLR2A	chr15:59512038-59512733	GM12892	blood:	n/a	n/a
42	POLR2A	chr15:59509776-59510613	GM12892	blood:	n/a	n/a
43	POLR2A	chr15:59513637-59513990	A549	lung:	n/a	n/a
44	POLR2A	chr15:59510905-59511489	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr15:59510817-59511475	GM12892	blood:	n/a	n/a
46	POLR2A	chr15:59509065-59509497	GM12891	blood:	n/a	n/a
47	POLR2A	chr15:59510778-59511523	GM12891	blood:	n/a	n/a
48	POLR2A	chr15:59513422-59513980	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr15:59507753-59508270	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr15:59509698-59511648	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
MYO1E	TF binding region
ENSG00000215983	TF binding region
RNU4-80P	TF binding region

Extended variants
information (count: 358 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:358 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370952210	chr15:59506435-59506436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369851959	chr15:59506445-59506446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565008797	chr15:59506448-59506449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186544268	chr15:59506463-59506464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550524838	chr15:59506505-59506506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371013910	chr15:59506518-59506519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377701641	chr15:59506526-59506527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555679222	chr15:59506527-59506528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371720503	chr15:59506544-59506545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200339467	chr15:59506548-59506549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141309150	chr15:59506550-59506551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529955415	chr15:59506558-59506559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73422940	chr15:59506622-59506623	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs566649630	chr15:59506628-59506629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533971546	chr15:59506629-59506630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74017400	chr15:59506642-59506643	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs570639125	chr15:59506643-59506644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115199785	chr15:59506647-59506648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79478250	chr15:59506677-59506678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183505617	chr15:59506693-59506694	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs559528044	chr15:59506709-59506710	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs74532487	chr15:59506733-59506734	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs185939608	chr15:59506769-59506770	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs199570761	chr15:59506815-59506816	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs199708161	chr15:59506840-59506841	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs540260977	chr15:59506854-59506855	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs376456654	chr15:59506860-59506861	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs536266133	chr15:59506872-59506873	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs142638347	chr15:59506876-59506877	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs532260829	chr15:59506877-59506878	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs369998755	chr15:59506889-59506890	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs150983259	chr15:59506892-59506893	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs373863967	chr15:59506904-59506905	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs562545489	chr15:59506916-59506917	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs375942900	chr15:59506918-59506919	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs375108901	chr15:59506936-59506937	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs370602849	chr15:59506941-59506942	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs111401523	chr15:59506946-59506947	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs529946709	chr15:59506972-59506973	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs548073963	chr15:59507009-59507010	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs116859957	chr15:59507010-59507011	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs373473644	chr15:59507058-59507059	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs552173622	chr15:59507093-59507094	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs113630263	chr15:59507112-59507113	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs112872319	chr15:59507164-59507165	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs138008377	chr15:59507214-59507215	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs190783499	chr15:59507222-59507223	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs568455290	chr15:59507240-59507241	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs561642404	chr15:59507265-59507266	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs199910253	chr15:59507304-59507305	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Mental retardation	17124404	CNVD
Gastrointestinal stromal cancer	20877625	CNVD

Chromatin state (count:248 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59467800-59523200	Weak transcription	Fetal Brain Female	brain
2	chr15:59468200-59528600	Weak transcription	Stomach Mucosa	stomach
3	chr15:59468600-59521400	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr15:59475800-59517800	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr15:59480200-59507200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr15:59480600-59507600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr15:59483200-59514000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr15:59485400-59515400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr15:59485600-59521200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr15:59487800-59524400	Weak transcription	Small Intestine	intestine
11	chr15:59489800-59512600	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr15:59489800-59515600	Weak transcription	Right Atrium	heart
13	chr15:59490200-59510800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr15:59492000-59521600	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr15:59493000-59512000	Strong transcription	HSMM	muscle
16	chr15:59493000-59513800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr15:59493200-59513600	Strong transcription	Osteobl	bone
18	chr15:59493200-59513800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr15:59493200-59514400	Strong transcription	HMEC	breast
20	chr15:59493200-59523200	Strong transcription	Hela-S3	cervix
21	chr15:59494800-59514200	Strong transcription	A549	lung
22	chr15:59496800-59515200	Weak transcription	Spleen	Spleen
23	chr15:59496800-59515600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr15:59496800-59522000	Strong transcription	NHEK	skin
25	chr15:59497000-59514600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr15:59497000-59524800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr15:59497200-59517600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:59498000-59516000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr15:59498800-59522000	Strong transcription	GM12878-XiMat	blood
30	chr15:59499200-59512600	Strong transcription	Fetal Intestine Large	intestine
31	chr15:59499400-59507600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr15:59499600-59507000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr15:59499600-59507200	Weak transcription	NHLF	lung
34	chr15:59500000-59509200	Weak transcription	Psoas Muscle	Psoas
35	chr15:59500000-59509600	Weak transcription	Esophagus	oesophagus
36	chr15:59500000-59513600	Weak transcription	Fetal Kidney	kidney
37	chr15:59500000-59515000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr15:59500000-59515000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr15:59500000-59517600	Weak transcription	Fetal Lung	lung
40	chr15:59500000-59524400	Weak transcription	Right Ventricle	heart
41	chr15:59500200-59508000	Weak transcription	Fetal Heart	heart
42	chr15:59500600-59524600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr15:59501000-59509200	Weak transcription	Colon Smooth Muscle	Colon
44	chr15:59501200-59506800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr15:59501200-59507000	Weak transcription	Brain Hippocampus Middle	brain
46	chr15:59501200-59507600	Weak transcription	Left Ventricle	heart
47	chr15:59501200-59507800	Weak transcription	Fetal Muscle Leg	muscle
48	chr15:59501200-59509200	Weak transcription	Fetal Stomach	stomach
49	chr15:59501200-59509800	Weak transcription	Lung	lung
50	chr15:59501200-59510400	Weak transcription	Brain Angular Gyrus	brain

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