Variant report

Variant	esv1006302
Chromosome Location	chr15:42545749-42552598
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:42544904..42547005-chr15:42561537..42563318,2	K562	blood:
2	chr15:42532284..42534911-chr15:42549043..42552041,2	K562	blood:
3	chr15:42552126..42554806-chr15:42568266..42570874,3	MCF-7	breast:
4	chr15:42550561..42553177-chr15:42566692..42569235,2	K562	blood:
5	chr15:42545753..42549905-chr15:42563424..42566580,4	K562	blood:
6	chr15:42544015..42546634-chr15:42547457..42549970,2	K562	blood:
7	chr15:42533593..42536142-chr15:42545624..42547945,2	K562	blood:
8	chr15:42544015..42546634-chr15:42547457..42549970,2	K562	blood:
9	chr15:42547199..42549905-chr15:42563424..42565633,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000214013	chromatin interactions
ENSG00000103978	chromatin interactions

Extended variants
information (count: 276 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:276 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145403917	chr15:42545805-42545806	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs187832237	chr15:42545829-42545830	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs371227514	chr15:42545830-42545831	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs78997168	chr15:42545886-42545887	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs550182049	chr15:42545888-42545889	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs551181906	chr15:42545899-42545900	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs556023894	chr15:42545931-42545932	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs574281265	chr15:42545970-42545971	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs4924641	chr15:42545982-42545983	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs4924642	chr15:42545995-42545996	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs544183165	chr15:42546022-42546023	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs149229174	chr15:42546076-42546077	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs550355090	chr15:42546096-42546097	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs75177863	chr15:42546098-42546099	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs558225757	chr15:42546119-42546120	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs555853725	chr15:42546180-42546181	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs192801901	chr15:42546219-42546220	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs182571384	chr15:42546237-42546238	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs538282508	chr15:42546251-42546252	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs576253300	chr15:42546260-42546261	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs74388606	chr15:42546261-42546262	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs74407783	chr15:42546262-42546263	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs111413935	chr15:42546284-42546285	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs147917304	chr15:42546294-42546295	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs187696231	chr15:42546340-42546341	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs141772610	chr15:42546356-42546357	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs540709143	chr15:42546375-42546376	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs146953594	chr15:42546385-42546386	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs76282781	chr15:42546394-42546395	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs192730913	chr15:42546414-42546415	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs373260105	chr15:42546513-42546514	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs79996129	chr15:42546525-42546526	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs529547018	chr15:42546544-42546545	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs549647812	chr15:42546557-42546558	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs545077717	chr15:42546561-42546562	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs566270611	chr15:42546567-42546568	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs535161083	chr15:42546577-42546578	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs369074336	chr15:42546619-42546620	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs368146487	chr15:42546633-42546634	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs138042596	chr15:42546671-42546672	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs560300596	chr15:42546676-42546677	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs537066800	chr15:42546693-42546694	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs28726146	chr15:42546694-42546695	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs370674309	chr15:42546779-42546780	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs576303781	chr15:42546783-42546784	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs183874013	chr15:42546793-42546794	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs555176056	chr15:42546804-42546805	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs527474927	chr15:42546821-42546822	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs571887994	chr15:42546834-42546835	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs140705842	chr15:42546875-42546876	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Myelofibrosis	22110671	CNVD
Maculopathy	20981449	CNVD
Gastric adenocarcinoma	19115996	CNVD
Intracranial arachnoid cysts	20187927	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:317 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42500800-42563200	Weak transcription	Stomach Mucosa	stomach
2	chr15:42519400-42562800	Weak transcription	Fetal Heart	heart
3	chr15:42520200-42561000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:42521000-42551000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr15:42527200-42548200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr15:42528800-42548800	Weak transcription	Small Intestine	intestine
7	chr15:42529800-42548400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr15:42530200-42546400	Weak transcription	Brain Hippocampus Middle	brain
9	chr15:42530600-42548800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr15:42530800-42551600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr15:42530800-42551600	Weak transcription	Right Ventricle	heart
12	chr15:42531800-42551800	Weak transcription	Psoas Muscle	Psoas
13	chr15:42532000-42551600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr15:42532200-42551000	Weak transcription	HMEC	breast
15	chr15:42532200-42552800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr15:42532400-42548200	Weak transcription	Colon Smooth Muscle	Colon
17	chr15:42532400-42548400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr15:42534800-42548400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr15:42535200-42546400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr15:42536600-42546600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr15:42542400-42547200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr15:42542800-42545800	ZNF genes & repeats	Fetal Brain Female	brain
23	chr15:42542800-42546000	ZNF genes & repeats	Fetal Intestine Small	intestine
24	chr15:42542800-42547600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr15:42542800-42550000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr15:42542800-42561600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr15:42543400-42545800	ZNF genes & repeats	Brain Germinal Matrix	brain
28	chr15:42543400-42546200	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr15:42543400-42547800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
30	chr15:42543400-42551000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
31	chr15:42543400-42559000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr15:42543400-42561200	Strong transcription	Liver	Liver
33	chr15:42543600-42545800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
34	chr15:42543600-42547600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
35	chr15:42543600-42548600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
36	chr15:42543600-42552600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr15:42543600-42561000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr15:42543800-42545800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr15:42543800-42545800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
40	chr15:42543800-42545800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
41	chr15:42543800-42545800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
42	chr15:42543800-42545800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr15:42543800-42545800	ZNF genes & repeats	Fetal Intestine Large	intestine
44	chr15:42543800-42545800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
45	chr15:42543800-42545800	Strong transcription	HUVEC	blood vessel
46	chr15:42543800-42546200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr15:42543800-42546400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr15:42543800-42546400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
49	chr15:42543800-42547200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr15:42543800-42547600	Strong transcription	Fetal Lung	lung

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