Variant report

Variant	esv2761966
Chromosome Location	chr15:56167250-56192861
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:56189708..56191637-chr15:56192609..56194993,2	K562	blood:
2	chr15:56189898..56190539-chr15:56209877..56210406,2	MCF-7	breast:
3	chr15:56189708..56191637-chr15:56192609..56194993,2	K562	blood:
4	chr15:56189903..56190536-chr15:56538041..56538735,3	MCF-7	breast:
5	chr15:55940251..55940793-chr15:56189676..56190326,2	K562	blood:
6	chr15:56190390..56193219-chr15:56284965..56287438,2	MCF-7	breast:
7	chr15:56186114..56188918-chr15:56190868..56192433,2	MCF-7	breast:
8	chr15:56186114..56188918-chr15:56190868..56192433,2	MCF-7	breast:
9	chr15:56189708..56191734-chr15:56192609..56195384,4	K562	blood:
10	chr15:56189431..56191033-chr15:56283600..56285774,2	MCF-7	breast:
11	chr15:56189708..56191734-chr15:56192609..56195384,4	K562	blood:
12	chr15:56034445..56037110-chr15:56186811..56188699,2	MCF-7	breast:
13	chr15:55940286..55941226-chr15:56189659..56190472,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166450	chromatin interactions
ENSG00000069869	chromatin interactions

Extended variants
information (count: 796 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:796 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551890085	chr15:56167265-56167266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201653409	chr15:56167305-56167306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112082658	chr15:56167311-56167312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11635063	chr15:56167314-56167315	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs548432759	chr15:56167354-56167355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568271338	chr15:56167363-56167364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536600551	chr15:56167366-56167367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374758649	chr15:56167393-56167394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547553692	chr15:56167448-56167449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550193516	chr15:56167481-56167482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142651788	chr15:56167569-56167570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112821396	chr15:56167576-56167577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7167999	chr15:56167667-56167668	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs542820447	chr15:56167669-56167670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559122281	chr15:56167672-56167673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572647157	chr15:56167721-56167722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150289426	chr15:56167741-56167742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536540206	chr15:56167807-56167808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184180671	chr15:56167811-56167812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188924222	chr15:56167870-56167871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181306602	chr15:56168029-56168030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377202001	chr15:56168057-56168058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562931429	chr15:56168062-56168063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528556444	chr15:56168101-56168102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551506615	chr15:56168134-56168135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs72732282	chr15:56168162-56168163	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs545466754	chr15:56168170-56168171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs137880859	chr15:56168246-56168247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528246786	chr15:56168304-56168305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548084361	chr15:56168313-56168314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368605449	chr15:56168319-56168320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561962809	chr15:56168352-56168353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576671434	chr15:56168390-56168391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374184981	chr15:56168399-56168400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550927547	chr15:56168472-56168473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149466275	chr15:56168521-56168522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540836900	chr15:56168537-56168538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537798836	chr15:56168551-56168552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376450534	chr15:56168605-56168606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552668390	chr15:56168620-56168621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143073113	chr15:56168646-56168647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559454732	chr15:56168711-56168712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542836652	chr15:56168718-56168719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535168986	chr15:56168721-56168722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557808144	chr15:56168809-56168810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554855435	chr15:56168898-56168899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575012681	chr15:56168994-56168995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186262289	chr15:56169021-56169022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138624646	chr15:56169100-56169101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576398096	chr15:56169105-56169106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastric adenocarcinoma	19115996	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:426 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56148200-56174400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:56149000-56177600	Weak transcription	Spleen	Spleen
3	chr15:56152800-56174600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr15:56153000-56167400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr15:56153000-56174000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr15:56153000-56174400	Weak transcription	HSMMtube	muscle
7	chr15:56153000-56174800	Weak transcription	Fetal Intestine Small	intestine
8	chr15:56153000-56176400	Weak transcription	Esophagus	oesophagus
9	chr15:56153600-56178600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr15:56155400-56174800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr15:56155400-56175600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr15:56158200-56176400	Weak transcription	Left Ventricle	heart
13	chr15:56161200-56174400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr15:56161200-56179800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr15:56161400-56174400	Weak transcription	NHEK	skin
16	chr15:56161400-56174600	Weak transcription	Primary T cells from cord blood	blood
17	chr15:56161400-56177400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr15:56161800-56174200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr15:56163400-56174600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr15:56163600-56174400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr15:56165000-56171200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr15:56165200-56174200	Weak transcription	Liver	Liver
23	chr15:56165200-56174200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr15:56165600-56169400	Weak transcription	HSMM	muscle
25	chr15:56165600-56171200	Weak transcription	Aorta	Aorta
26	chr15:56165600-56174800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr15:56166000-56170600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr15:56166000-56170800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr15:56166000-56171400	Weak transcription	HUVEC	blood vessel
30	chr15:56166000-56174400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr15:56166000-56185400	Weak transcription	Hela-S3	cervix
32	chr15:56166600-56167400	Enhancers	A549	lung
33	chr15:56166600-56167800	Enhancers	Psoas Muscle	Psoas
34	chr15:56167400-56167800	Weak transcription	A549	lung
35	chr15:56167400-56168200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr15:56167800-56169200	Enhancers	A549	lung
37	chr15:56167800-56176200	Weak transcription	Psoas Muscle	Psoas
38	chr15:56169200-56169400	Flanking Active TSS	A549	lung
39	chr15:56169400-56169600	Enhancers	A549	lung
40	chr15:56169400-56170200	Strong transcription	HSMM	muscle
41	chr15:56169600-56169800	Flanking Active TSS	A549	lung
42	chr15:56169800-56170600	Enhancers	A549	lung
43	chr15:56170200-56174400	Weak transcription	HSMM	muscle
44	chr15:56170600-56171000	Flanking Active TSS	A549	lung
45	chr15:56170600-56171400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr15:56170800-56171000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr15:56171000-56171400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr15:56171000-56171400	Active TSS	A549	lung
49	chr15:56171200-56171400	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr15:56171200-56171600	Enhancers	Aorta	Aorta

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