Variant report

Variant	esv18217
Chromosome Location	chr15:42721271-42723558
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr15:42722573-42722590	K562	blood:	n/a	n/a
2	ATF1	chr15:42722193-42722257	K562	blood:	n/a	n/a
3	EP300	chr15:42722385-42722434	K562	blood:	n/a	n/a
4	MAFK	chr15:42723461-42723591	HepG2	liver:	n/a	n/a
5	MAFK	chr15:42723484-42723529	HepG2	liver:	n/a	n/a
6	POLR2A	chr15:42723258-42723600	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr15:42721257-42721384	GM12878	blood:	n/a	n/a
8	POLR2A	chr15:42722142-42722246	HepG2	liver:	n/a	n/a
9	RCOR1	chr15:42723381-42723492	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:42717136..42720670-chr15:42722552..42724712,4	K562	blood:
2	chr15:42720726..42723222-chr15:42725910..42728014,2	K562	blood:
3	chr15:42716682..42718425-chr15:42719887..42721928,2	K562	blood:

No data

Variant related genes	Relation type
ZNF106	TF binding region
RNU6-188P	TF binding region
ENSG00000103994	chromatin interactions
ENSG00000201077	chromatin interactions

Extended variants
information (count: 79 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544351577	chr15:42721279-42721280	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs149392969	chr15:42721353-42721354	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs144787386	chr15:42721362-42721363	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs112260311	chr15:42721404-42721405	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs576047571	chr15:42721405-42721406	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540113184	chr15:42721412-42721413	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs560397917	chr15:42721421-42721422	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs62022305	chr15:42721440-42721441	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs551742151	chr15:42721475-42721476	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs564968939	chr15:42721531-42721532	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs141690778	chr15:42721562-42721563	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs561532296	chr15:42721569-42721570	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs550680784	chr15:42721598-42721599	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs567481849	chr15:42721615-42721616	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs536454151	chr15:42721623-42721624	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs546926974	chr15:42721624-42721625	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs77454804	chr15:42721641-42721642	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs74639413	chr15:42721645-42721646	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs538998251	chr15:42721654-42721655	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs570525699	chr15:42721660-42721661	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs575334046	chr15:42721701-42721702	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs537908472	chr15:42721721-42721722	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs554713005	chr15:42721732-42721733	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs188745168	chr15:42721765-42721766	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs574638194	chr15:42721772-42721773	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs145935559	chr15:42721783-42721784	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs577049158	chr15:42721793-42721794	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs184334219	chr15:42721845-42721846	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs564904985	chr15:42721958-42721959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139828418	chr15:42721969-42721970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539796478	chr15:42721993-42721994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186753185	chr15:42722018-42722019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561046280	chr15:42722038-42722039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530178286	chr15:42722044-42722045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73402745	chr15:42722083-42722084	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs77677482	chr15:42722100-42722101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539291987	chr15:42722217-42722218	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs552921671	chr15:42722286-42722287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143483801	chr15:42722309-42722310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375902350	chr15:42722332-42722333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537841475	chr15:42722355-42722356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554651536	chr15:42722393-42722394	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs574574973	chr15:42722406-42722407	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs533684002	chr15:42722418-42722419	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs541318238	chr15:42722524-42722525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146285602	chr15:42722589-42722590	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs191543882	chr15:42722594-42722595	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs370007377	chr15:42722602-42722603	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs12915795	chr15:42722628-42722629	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs139206587	chr15:42722639-42722640	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Colorectal cancer	16774939	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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Melanoma	17363583	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD

Chromatin state (count:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42694600-42750600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr15:42698600-42738400	Strong transcription	Fetal Muscle Leg	muscle
3	chr15:42699200-42741600	Strong transcription	Fetal Muscle Trunk	muscle
4	chr15:42700000-42732400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr15:42700800-42732000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:42700800-42747200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr15:42701000-42738800	Strong transcription	Duodenum Smooth Muscle	Duodenum
8	chr15:42701200-42766600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr15:42701400-42732600	Strong transcription	Adipose Nuclei	Adipose
10	chr15:42701600-42744200	Strong transcription	Stomach Smooth Muscle	stomach
11	chr15:42701800-42732400	Strong transcription	Fetal Intestine Large	intestine
12	chr15:42702200-42750200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr15:42702400-42732600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr15:42702400-42744200	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr15:42702400-42744200	Strong transcription	Liver	Liver
16	chr15:42702600-42724000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr15:42702600-42732400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr15:42702600-42738800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr15:42702600-42744400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr15:42702800-42732000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:42702800-42744400	Strong transcription	Duodenum Mucosa	Duodenum
22	chr15:42703000-42726000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr15:42703000-42732200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr15:42703000-42732400	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr15:42703200-42732600	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr15:42704000-42721400	Strong transcription	Fetal Thymus	thymus
27	chr15:42704000-42744400	Strong transcription	Fetal Lung	lung
28	chr15:42704000-42746800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:42704200-42731000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr15:42704600-42744200	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr15:42705800-42749200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr15:42706400-42721800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr15:42706400-42732400	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr15:42706400-42732400	Strong transcription	Placenta	Placenta
35	chr15:42706400-42732600	Strong transcription	Primary B cells from peripheral blood	blood
36	chr15:42706400-42734600	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr15:42706400-42744200	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr15:42706600-42730000	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr15:42706600-42732200	Strong transcription	Lung	lung
40	chr15:42707000-42730600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr15:42707000-42739400	Strong transcription	Left Ventricle	heart
42	chr15:42707800-42732400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr15:42708200-42732000	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr15:42709800-42747000	Weak transcription	Stomach Mucosa	stomach
45	chr15:42710200-42740200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr15:42711200-42723400	Strong transcription	Ovary	ovary
47	chr15:42711200-42732000	Strong transcription	Right Ventricle	heart
48	chr15:42711600-42723000	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr15:42711600-42723000	Strong transcription	HUVEC	blood vessel
50	chr15:42711600-42730800	Strong transcription	Fetal Brain Female	brain

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