Variant report

Variant	esv3527727
Chromosome Location	chr4:1373547-1373678
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	chr4:1373666-1373927	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:1340815..1342622-chr4:1372089..1374587,2	K562	blood:
2	chr4:1369729..1371472-chr4:1372509..1375882,3	K562	blood:
3	chr4:1370956..1376501-chr4:1377818..1383602,6	K562	blood:
4	chr4:1340815..1342906-chr4:1371434..1373589,2	K562	blood:

Variant related genes	Relation type
UVSSA	TF binding region
ENSG00000163945	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559925455	chr4:1373547-1373548	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs386670497	chr4:1373551-1373552	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs4974616	chr4:1373566-1373567	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs62284733	chr4:1373570-1373571	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs143660090	chr4:1373574-1373575	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
6	rs62284734	chr4:1373579-1373580	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs570124393	chr4:1373581-1373582	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs113126416	chr4:1373588-1373589	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs182442576	chr4:1373607-1373608	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs149258338	chr4:1373608-1373609	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs113834720	chr4:1373622-1373623	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs62284735	chr4:1373628-1373629	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
13	rs577774841	chr4:1373637-1373638	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs544762536	chr4:1373644-1373645	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs563045291	chr4:1373645-1373646	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs575040173	chr4:1373646-1373647	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs4974617	chr4:1373658-1373659	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs4974618	chr4:1373663-1373664	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:62)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1341800-1387800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:1341800-1388800	Weak transcription	Small Intestine	intestine
3	chr4:1342200-1382600	Weak transcription	Primary B cells from cord blood	blood
4	chr4:1342400-1379800	Weak transcription	A549	lung
5	chr4:1342600-1385600	Weak transcription	Fetal Kidney	kidney
6	chr4:1342800-1379800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:1342800-1381200	Strong transcription	Fetal Intestine Small	intestine
8	chr4:1343400-1381200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr4:1346000-1386600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr4:1346000-1389200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr4:1352600-1382000	Weak transcription	Fetal Brain Male	brain
12	chr4:1353400-1382000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:1353600-1379600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:1353600-1382200	Weak transcription	Osteobl	bone
15	chr4:1353800-1380000	Weak transcription	GM12878-XiMat	blood
16	chr4:1355000-1376800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:1355400-1380800	Strong transcription	Fetal Stomach	stomach
18	chr4:1358600-1381200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:1358800-1379400	Strong transcription	Spleen	Spleen
20	chr4:1359600-1375600	Strong transcription	Esophagus	oesophagus
21	chr4:1360800-1389600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr4:1361000-1374400	Weak transcription	Psoas Muscle	Psoas
23	chr4:1362600-1379400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:1363000-1380400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:1363000-1380800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:1363800-1380400	Strong transcription	Right Ventricle	heart
27	chr4:1364200-1381600	Strong transcription	Ovary	ovary
28	chr4:1364600-1376200	Strong transcription	Brain Germinal Matrix	brain
29	chr4:1364800-1375200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:1365200-1374400	Strong transcription	Lung	lung
31	chr4:1365600-1378200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr4:1366200-1376000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:1366400-1379400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:1366400-1379800	Weak transcription	Fetal Lung	lung
35	chr4:1367000-1379000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr4:1367600-1374000	Strong transcription	Colonic Mucosa	Colon
37	chr4:1367600-1374400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:1367800-1374200	Weak transcription	NHEK	skin
39	chr4:1367800-1375800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:1367800-1379800	Weak transcription	HepG2	liver
41	chr4:1368000-1379400	Weak transcription	Primary B cells from peripheral blood	blood
42	chr4:1368200-1380800	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr4:1368400-1375000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr4:1368800-1389200	Weak transcription	NHDF-Ad	bronchial
45	chr4:1369800-1374200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr4:1370000-1375600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr4:1370000-1375800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr4:1370000-1376800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr4:1370000-1377800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr4:1370000-1379800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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