Variant report

Variant	esv1794723
Chromosome Location	chr15:58732468-58739413
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:58709732..58712579-chr15:58730855..58732681,2	K562	blood:
2	chr15:58729567..58734283-chr15:58741092..58746394,5	K562	blood:
3	chr15:58726654..58728474-chr15:58730449..58733344,2	MCF-7	breast:
4	chr15:58739121..58741793-chr15:58746543..58749268,3	K562	blood:
5	chr15:58737118..58738691-chr15:58740817..58742511,2	K562	blood:
6	chr15:58731261..58732919-chr15:58735065..58738026,2	K562	blood:
7	chr15:58623562..58626994-chr15:58730618..58733502,3	MCF-7	breast:
8	chr15:58731261..58732919-chr15:58735065..58738026,2	K562	blood:
9	chr15:58723370..58725024-chr15:58732776..58734366,2	K562	blood:
10	chr15:58732540..58734705-chr15:58743392..58745682,2	MCF-7	breast:
11	chr15:58731963..58734945-chr15:58743116..58746394,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000128918	chromatin interactions
ENSG00000166035	chromatin interactions

Extended variants
information (count: 301 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:301 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12594375	chr15:58732468-58732469	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529896322	chr15:58732469-58732470	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs368875783	chr15:58732475-58732476	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs558898825	chr15:58732491-58732492	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs549735948	chr15:58732505-58732506	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs566133842	chr15:58732528-58732529	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs148854464	chr15:58732548-58732549	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs59562231	chr15:58732551-58732552	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs185759822	chr15:58732583-58732584	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs543307656	chr15:58732610-58732611	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs113539107	chr15:58732664-58732665	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs577074114	chr15:58732723-58732724	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs561467653	chr15:58732755-58732756	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs532464623	chr15:58732760-58732761	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs188187294	chr15:58732780-58732781	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs376062943	chr15:58732805-58732806	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs61637250	chr15:58732816-58732817	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs557908188	chr15:58732817-58732818	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs561660879	chr15:58732818-58732819	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs180895093	chr15:58732830-58732831	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs550602820	chr15:58732850-58732851	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs185547217	chr15:58732856-58732857	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs190213311	chr15:58732924-58732925	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs552715995	chr15:58732928-58732929	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs566176155	chr15:58732988-58732989	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs535106612	chr15:58733012-58733013	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs201884460	chr15:58733017-58733018	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs548321632	chr15:58733020-58733021	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs568219273	chr15:58733026-58733027	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs537008364	chr15:58733037-58733038	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs556952208	chr15:58733074-58733075	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs181588650	chr15:58733084-58733085	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs528220397	chr15:58733086-58733087	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs539382436	chr15:58733094-58733095	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs546601181	chr15:58733149-58733150	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs553118845	chr15:58733171-58733172	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs261340	chr15:58733173-58733174	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs369541518	chr15:58733183-58733184	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs112653180	chr15:58733206-58733207	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs192016272	chr15:58733226-58733227	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs537053931	chr15:58733241-58733242	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs369270389	chr15:58733242-58733243	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs565690609	chr15:58733299-58733300	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs575425141	chr15:58733322-58733323	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs544196670	chr15:58733332-58733333	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs563950483	chr15:58733341-58733342	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs532824893	chr15:58733363-58733364	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs552635142	chr15:58733366-58733367	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs370524226	chr15:58733370-58733371	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs556728893	chr15:58733431-58733432	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
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
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58724800-58732600	Weak transcription	Psoas Muscle	Psoas
2	chr15:58726400-58737200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:58726600-58734200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr15:58728800-58738200	Enhancers	Fetal Thymus	thymus
5	chr15:58729200-58733400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr15:58729800-58737800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:58730000-58732600	Weak transcription	Thymus	Thymus
8	chr15:58730000-58734800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr15:58730000-58737800	Enhancers	HepG2	liver
10	chr15:58730200-58734400	Enhancers	Pancreas	Pancrea
11	chr15:58730400-58737800	Enhancers	Right Atrium	heart
12	chr15:58730400-58738000	Enhancers	Liver	Liver
13	chr15:58730400-58746200	Weak transcription	GM12878-XiMat	blood
14	chr15:58730600-58732600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:58730600-58734600	Enhancers	Right Ventricle	heart
16	chr15:58730800-58735200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr15:58730800-58737800	Enhancers	Left Ventricle	heart
18	chr15:58731000-58732800	Enhancers	Duodenum Mucosa	Duodenum
19	chr15:58731000-58734400	Enhancers	Fetal Muscle Leg	muscle
20	chr15:58731000-58734400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr15:58731000-58735200	Enhancers	Fetal Intestine Large	intestine
22	chr15:58731000-58735600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr15:58731000-58735800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr15:58731200-58732600	Enhancers	HSMMtube	muscle
25	chr15:58731200-58733000	Weak transcription	Spleen	Spleen
26	chr15:58731200-58734600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr15:58731200-58734600	Enhancers	Placenta	Placenta
28	chr15:58731200-58734800	Enhancers	K562	blood
29	chr15:58731200-58735200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr15:58731200-58736800	Weak transcription	Gastric	stomach
31	chr15:58731200-58736800	Enhancers	NHDF-Ad	bronchial
32	chr15:58731200-58737200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr15:58731200-58737600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr15:58731200-58737800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:58731400-58736600	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr15:58731400-58737000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr15:58731600-58734600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr15:58731600-58735000	Enhancers	Adipose Nuclei	Adipose
39	chr15:58731600-58735000	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr15:58731600-58735800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr15:58731600-58737200	Enhancers	Stomach Mucosa	stomach
42	chr15:58731800-58732600	Enhancers	Brain Hippocampus Middle	brain
43	chr15:58731800-58732800	Weak transcription	Esophagus	oesophagus
44	chr15:58731800-58734200	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr15:58731800-58735000	Enhancers	Small Intestine	intestine
46	chr15:58731800-58736800	Enhancers	NHLF	lung
47	chr15:58731800-58739400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr15:58732000-58732800	Enhancers	Ovary	ovary
49	chr15:58732000-58733200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr15:58732000-58733200	Enhancers	Fetal Kidney	kidney

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