Variant report

Variant	esv2020159
Chromosome Location	chr15:43660232-43660967
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:43660192-43660336	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43632397..43634657-chr15:43658728..43661211,2	K562	blood:
2	chr15:43660016..43662796-chr15:43702586..43705983,3	K562	blood:

Variant related genes	Relation type
TUBGCP4	TF binding region
ENSG00000067369	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57228038	chr15:43660314-43660315	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs552714569	chr15:43660342-43660343	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs563467823	chr15:43660376-43660377	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs117672353	chr15:43660384-43660385	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs192384420	chr15:43660407-43660408	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs575986692	chr15:43660423-43660424	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs371656799	chr15:43660442-43660443	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs562159580	chr15:43660443-43660444	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs527968376	chr15:43660444-43660445	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs541743270	chr15:43660445-43660446	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs564496346	chr15:43660464-43660465	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs533589476	chr15:43660879-43660880	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs4583210	chr15:43660925-43660926	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs144499772	chr15:43660938-43660939	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	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
Mental retardation	17124404	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43650200-43660400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
2	chr15:43650200-43661600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:43650600-43661400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr15:43651000-43660400	Strong transcription	Placenta Amnion	Placenta Amnion
5	chr15:43654000-43661200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr15:43654000-43661200	Strong transcription	Placenta	Placenta
7	chr15:43654400-43662000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr15:43654600-43661800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:43654800-43661000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr15:43654800-43661000	Weak transcription	Stomach Mucosa	stomach
11	chr15:43654800-43661200	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr15:43654800-43661400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:43654800-43661800	Strong transcription	HSMM	muscle
14	chr15:43655000-43660400	Strong transcription	Stomach Smooth Muscle	stomach
15	chr15:43655200-43661000	Strong transcription	K562	blood
16	chr15:43655200-43661400	Strong transcription	NHDF-Ad	bronchial
17	chr15:43655800-43661000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr15:43656000-43660600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr15:43656000-43660600	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr15:43656000-43661400	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr15:43656000-43661600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr15:43656200-43661600	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr15:43656400-43660600	Strong transcription	HMEC	breast
24	chr15:43656400-43661800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr15:43656600-43660800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr15:43656600-43661000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr15:43656600-43661200	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr15:43656600-43661200	Strong transcription	Fetal Muscle Trunk	muscle
29	chr15:43656600-43661400	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr15:43656600-43661800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr15:43656800-43661000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr15:43656800-43661800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr15:43656800-43661800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr15:43657400-43660400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr15:43657400-43660600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr15:43657600-43661000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr15:43657800-43660600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr15:43657800-43661800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr15:43658000-43660400	Strong transcription	Primary T cells from cord blood	blood
40	chr15:43658000-43660400	Strong transcription	NHEK	skin
41	chr15:43658000-43661400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr15:43658800-43660400	Strong transcription	Primary B cells from cord blood	blood
43	chr15:43658800-43661200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr15:43658800-43661800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr15:43659000-43661000	Weak transcription	Right Ventricle	heart
46	chr15:43659000-43661000	Weak transcription	Small Intestine	intestine
47	chr15:43659000-43661600	Weak transcription	Brain Substantia Nigra	brain
48	chr15:43659200-43661400	Weak transcription	HSMMtube	muscle
49	chr15:43659200-43662200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr15:43659400-43660400	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain

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