Variant report

Variant	esv2618501
Chromosome Location	chr15:43659722-43661347
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:43659153-43659836	K562	blood:	n/a	n/a
2	POLR2A	chr15:43660982-43661711	K562	blood:	n/a	n/a
3	POLR2A	chr15:43660192-43660336	HepG2	liver:	n/a	n/a
4	POLR2A	chr15:43661060-43663929	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr15:43659700-43659818	HepG2	liver:	n/a	n/a
6	POLR2A	chr15:43659947-43660134	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr15:43659470-43659741	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr15:43661124-43661415	HepG2	liver:	n/a	n/a
9	POLR2A	chr15:43661129-43661750	GM12878	blood:	n/a	n/a
10	POLR2A	chr15:43659891-43660046	HepG2	liver:	n/a	n/a
11	POLR2A	chr15:43659682-43659750	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:43620486..43624109-chr15:43661175..43665421,4	K562	blood:
2	chr15:43618581..43624264-chr15:43661265..43664929,7	MCF-7	breast:
3	chr15:43632397..43634657-chr15:43658728..43661211,2	K562	blood:
4	chr15:43641400..43644347-chr15:43658323..43660227,2	K562	blood:
5	chr15:43621397..43624186-chr15:43658342..43659938,2	K562	blood:
6	chr15:43660016..43662796-chr15:43702586..43705983,3	K562	blood:

No data

Variant related genes	Relation type
TUBGCP4	TF binding region
ENSG00000168806	chromatin interactions
ENSG00000168803	chromatin interactions
ENSG00000067369	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 63 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527839863	chr15:43659738-43659739	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs547670414	chr15:43659739-43659740	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs550180300	chr15:43659752-43659753	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs571065413	chr15:43659772-43659773	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs532869640	chr15:43659777-43659778	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs570189986	chr15:43659789-43659790	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs375279766	chr15:43659830-43659831	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs186663802	chr15:43659870-43659871	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs534541323	chr15:43659899-43659900	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs569636693	chr15:43659955-43659956	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs535452504	chr15:43660033-43660034	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs61347729	chr15:43660094-43660095	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs565836691	chr15:43660113-43660114	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs534960361	chr15:43660126-43660127	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs557653977	chr15:43660160-43660161	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
16	rs199918730	chr15:43660219-43660220	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
17	rs201104519	chr15:43660220-43660221	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
18	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
19	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
20	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
21	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
22	rs192384420	chr15:43660407-43660408	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs575986692	chr15:43660423-43660424	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs371656799	chr15:43660442-43660443	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs562159580	chr15:43660443-43660444	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs527968376	chr15:43660444-43660445	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs541743270	chr15:43660445-43660446	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs564496346	chr15:43660464-43660465	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	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
30	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
31	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
32	rs2412778	chr15:43660982-43660983	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs184761366	chr15:43661028-43661029	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs189190969	chr15:43661051-43661052	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs371019735	chr15:43661079-43661080	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs201028220	chr15:43661104-43661105	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs374403254	chr15:43661115-43661116	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs370860287	chr15:43661122-43661123	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs558053205	chr15:43661197-43661198	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs144922562	chr15:43661208-43661209	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs28493274	chr15:43661215-43661216	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs200482375	chr15:43661219-43661220	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs536854604	chr15:43661236-43661237	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs199628783	chr15:43661243-43661244	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs151307138	chr15:43661250-43661251	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs140542429	chr15:43661253-43661254	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs376557252	chr15:43661273-43661274	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs576124859	chr15:43661310-43661311	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs148439447	chr15:43661340-43661341	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs142559639	chr15:43661343-43661344	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 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:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43649800-43660000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
2	chr15:43649800-43660200	ZNF genes & repeats	Fetal Muscle Leg	muscle
3	chr15:43650200-43659800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr15:43650200-43660400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
5	chr15:43650200-43661600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:43650600-43661400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr15:43650800-43659800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:43650800-43660200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr15:43651000-43659800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
10	chr15:43651000-43660000	ZNF genes & repeats	Fetal Lung	lung
11	chr15:43651000-43660200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
12	chr15:43651000-43660400	Strong transcription	Placenta Amnion	Placenta Amnion
13	chr15:43654000-43660000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr15:43654000-43660000	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr15:43654000-43660200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:43654000-43661200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr15:43654000-43661200	Strong transcription	Placenta	Placenta
18	chr15:43654200-43659800	Strong transcription	Brain Cingulate Gyrus	brain
19	chr15:43654200-43659800	Strong transcription	Rectal Smooth Muscle	rectum
20	chr15:43654400-43662000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr15:43654600-43659800	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr15:43654600-43661800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr15:43654800-43659800	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr15:43654800-43661000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr15:43654800-43661000	Weak transcription	Stomach Mucosa	stomach
26	chr15:43654800-43661200	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr15:43654800-43661400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr15:43654800-43661800	Strong transcription	HSMM	muscle
29	chr15:43655000-43660000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
30	chr15:43655000-43660400	Strong transcription	Stomach Smooth Muscle	stomach
31	chr15:43655200-43659800	ZNF genes & repeats	Fetal Stomach	stomach
32	chr15:43655200-43661000	Strong transcription	K562	blood
33	chr15:43655200-43661400	Strong transcription	NHDF-Ad	bronchial
34	chr15:43655400-43660000	Strong transcription	Fetal Intestine Large	intestine
35	chr15:43655800-43661000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr15:43656000-43660600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr15:43656000-43660600	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr15:43656000-43661400	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr15:43656000-43661600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr15:43656200-43660000	Strong transcription	NH-A	brain
41	chr15:43656200-43661600	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr15:43656400-43659800	Strong transcription	Osteobl	bone
43	chr15:43656400-43660000	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr15:43656400-43660000	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr15:43656400-43660600	Strong transcription	HMEC	breast
46	chr15:43656400-43661800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr15:43656600-43660000	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr15:43656600-43660200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr15:43656600-43660200	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr15:43656600-43660800	Weak transcription	Primary T cells fromperipheralblood	blood

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