Variant report

Variant	esv2763103
Chromosome Location	chr15:57781577-57799765
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:57780102..57781680-chr15:57834323..57835869,2	K562	blood:
2	chr15:57782161..57783961-chr15:57796230..57798996,2	K562	blood:
3	chr15:57668388..57670027-chr15:57798207..57800643,2	MCF-7	breast:
4	chr15:57790627..57792700-chr15:57796168..57798230,2	MCF-7	breast:
5	chr15:57797159..57800107-chr15:57801647..57804598,2	K562	blood:
6	chr15:57438651..57439251-chr15:57795273..57796153,2	K562	blood:
7	chr11:9482544..9483068-chr15:57791717..57792599,2	MCF-7	breast:
8	chr15:57632179..57633491-chr15:57795201..57795781,4	K562	blood:
9	chr15:57780555..57782783-chr15:57783060..57786197,3	K562	blood:
10	chr15:57782161..57783961-chr15:57796230..57798996,2	K562	blood:
11	chr15:57632396..57633185-chr15:57798175..57798849,2	MCF-7	breast:
12	chr15:57637995..57638567-chr15:57798058..57798880,2	MCF-7	breast:
13	chr15:57785599..57788871-chr15:57789912..57793304,3	MCF-7	breast:
14	chr15:57627655..57630463-chr15:57790410..57793260,2	K562	blood:
15	chr15:57696048..57697809-chr15:57796426..57799407,2	MCF-7	breast:
16	chr15:57797927..57800913-chr15:57801647..57804497,4	K562	blood:
17	chr15:57797923..57800458-chr15:57801909..57803943,2	MCF-7	breast:
18	chr15:57785599..57788871-chr15:57789912..57793304,3	MCF-7	breast:
19	chr15:57780555..57782783-chr15:57783060..57786197,3	K562	blood:
20	chr15:57790627..57792700-chr15:57796168..57798230,2	MCF-7	breast:
21	chr15:57777677..57780127-chr15:57786834..57789579,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000128849	chromatin interactions
ENSG00000166478	chromatin interactions
ENSG00000252984	chromatin interactions

Extended variants
information (count: 804 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:804 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576315041	chr15:57781593-57781594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143439053	chr15:57781647-57781648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184746209	chr15:57781654-57781655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533561451	chr15:57781684-57781685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543845995	chr15:57781713-57781714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547052290	chr15:57781747-57781748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368927053	chr15:57781843-57781844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs72739758	chr15:57781861-57781862	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs148019404	chr15:57781863-57781864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368604368	chr15:57781864-57781865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs56179101	chr15:57781877-57781878	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs189559503	chr15:57781893-57781894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs180773145	chr15:57781908-57781909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558502425	chr15:57781916-57781917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76747689	chr15:57781990-57781991	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540635202	chr15:57782022-57782023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560331870	chr15:57782034-57782035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2922223	chr15:57782058-57782059	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs34172552	chr15:57782083-57782084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372176680	chr15:57782136-57782137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183502718	chr15:57782152-57782153	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189401237	chr15:57782203-57782204	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570303855	chr15:57782248-57782249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10518922	chr15:57782249-57782250	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs564847627	chr15:57782260-57782261	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1296301	chr15:57782273-57782274	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs377298083	chr15:57782285-57782286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12442969	chr15:57782291-57782292	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs567182720	chr15:57782350-57782351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181736596	chr15:57782365-57782366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs58764014	chr15:57782493-57782494	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs61270511	chr15:57782596-57782597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34731849	chr15:57782597-57782598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs398027467	chr15:57782608-57782609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199516625	chr15:57782609-57782610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146005076	chr15:57782613-57782614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112881394	chr15:57782614-57782615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139904818	chr15:57782617-57782618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs578249374	chr15:57782620-57782621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141856446	chr15:57782624-57782625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531625079	chr15:57782626-57782627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187013914	chr15:57782685-57782686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554121376	chr15:57782704-57782705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373334357	chr15:57782775-57782776	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191554027	chr15:57782790-57782791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551797297	chr15:57782798-57782799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556401033	chr15:57782821-57782822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575794696	chr15:57782825-57782826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146260863	chr15:57782844-57782845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564776061	chr15:57782879-57782880	Weak transcription Strong transcription	n/a	n/a	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
Chronic lymphocytic leukemia	21546498	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
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:436 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57749800-57787400	Weak transcription	Ovary	ovary
2	chr15:57771000-57795200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:57771600-57787400	Weak transcription	Fetal Kidney	kidney
4	chr15:57771600-57787600	Weak transcription	Fetal Stomach	stomach
5	chr15:57771800-57786800	Weak transcription	Aorta	Aorta
6	chr15:57777400-57786000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr15:57778200-57787000	Strong transcription	Liver	Liver
8	chr15:57778200-57798400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr15:57778600-57786800	Weak transcription	Fetal Muscle Leg	muscle
10	chr15:57778600-57789000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr15:57778800-57782200	Weak transcription	Psoas Muscle	Psoas
12	chr15:57778800-57786800	Weak transcription	Gastric	stomach
13	chr15:57779000-57786600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr15:57779000-57786800	Weak transcription	Left Ventricle	heart
15	chr15:57779000-57787000	Weak transcription	Pancreas	Pancrea
16	chr15:57779000-57788600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr15:57779000-57789000	Weak transcription	Esophagus	oesophagus
18	chr15:57779000-57794200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr15:57779000-57794400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr15:57779000-57797600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr15:57779000-57798200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr15:57779200-57786800	Weak transcription	HepG2	liver
23	chr15:57779200-57787000	Weak transcription	HUVEC	blood vessel
24	chr15:57779200-57788600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr15:57779400-57794200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr15:57779400-57800800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr15:57781000-57786800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr15:57781000-57787400	Weak transcription	Lung	lung
29	chr15:57781200-57784000	Weak transcription	Fetal Heart	heart
30	chr15:57783200-57787400	Weak transcription	Placenta	Placenta
31	chr15:57784000-57785800	Enhancers	Fetal Heart	heart
32	chr15:57785000-57787600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr15:57785800-57786000	Flanking Active TSS	Fetal Heart	heart
34	chr15:57786000-57786800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr15:57786000-57786800	Enhancers	Fetal Heart	heart
36	chr15:57786400-57787400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr15:57786600-57787800	Enhancers	Stomach Smooth Muscle	stomach
38	chr15:57786600-57790000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr15:57786800-57787000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr15:57786800-57787200	Enhancers	Aorta	Aorta
41	chr15:57786800-57787200	Flanking Active TSS	Fetal Heart	heart
42	chr15:57786800-57787400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr15:57786800-57787600	Enhancers	Gastric	stomach
44	chr15:57786800-57787600	Enhancers	Right Atrium	heart
45	chr15:57786800-57787800	Enhancers	Left Ventricle	heart
46	chr15:57786800-57788000	Enhancers	Primary B cells from peripheral blood	blood
47	chr15:57786800-57788000	Enhancers	Fetal Muscle Leg	muscle
48	chr15:57786800-57788000	Enhancers	GM12878-XiMat	blood
49	chr15:57786800-57789000	Enhancers	HepG2	liver
50	chr15:57786800-57790000	Enhancers	Right Ventricle	heart

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