Variant report

Variant	esv2417378
Chromosome Location	chr4:187643031-187643033
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:187638279..187640138-chr4:187642183..187644541,2	K562	blood:
2	chr4:187632290..187634581-chr4:187642578..187644901,2	K562	blood:
3	chr4:187641332..187643259-chr4:187644870..187646656,2	K562	blood:

Variant related genes	Relation type
ENSG00000083857	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 80 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs327106	chr4:187643032-187643033	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
XY gonadal dysgenesis	20685758	CNVD
Prostate cancer	22341455	CNVD
Schizophrenia	20967226	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187626400-187643600	Weak transcription	Stomach Mucosa	stomach
2	chr4:187630400-187643600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:187631000-187643600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:187634800-187644200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:187635400-187644200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:187635600-187643200	Weak transcription	Right Ventricle	heart
7	chr4:187635800-187643800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:187637600-187643400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:187638200-187644200	Weak transcription	Pancreas	Pancrea
10	chr4:187639400-187643400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr4:187640400-187643200	Weak transcription	HSMM	muscle
12	chr4:187641800-187643200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:187641800-187643200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:187641800-187643400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:187641800-187644000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr4:187642000-187643200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr4:187642000-187643200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:187642000-187643200	Weak transcription	Fetal Lung	lung
19	chr4:187642000-187643200	Weak transcription	Osteobl	bone
20	chr4:187642000-187643400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr4:187642000-187643400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr4:187642000-187643400	Weak transcription	Fetal Kidney	kidney
23	chr4:187642000-187644000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:187642000-187644200	Weak transcription	Lung	lung
25	chr4:187642000-187646800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:187642400-187643200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:187642400-187643200	Flanking Active TSS	HMEC	breast
28	chr4:187642400-187643400	Weak transcription	A549	lung
29	chr4:187642600-187643200	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr4:187642600-187643200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:187642600-187643200	Enhancers	Fetal Intestine Small	intestine
32	chr4:187642600-187643400	Enhancers	Fetal Heart	heart
33	chr4:187642600-187643600	Enhancers	Colon Smooth Muscle	Colon
34	chr4:187642600-187643800	Transcr. at gene 5' and 3'	NHEK	skin
35	chr4:187642600-187646200	Active TSS	H1 Cell Line	embryonic stem cell
36	chr4:187642600-187649200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:187642800-187643200	Enhancers	NH-A	brain
38	chr4:187642800-187643600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:187642800-187643600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:187642800-187644400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:187642800-187649000	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr4:187643000-187643200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:187643000-187643200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr4:187643000-187643200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr4:187643000-187643200	Enhancers	Right Atrium	heart
46	chr4:187643000-187643400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:187643000-187643400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:187643000-187643400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
49	chr4:187643000-187643400	Enhancers	Aorta	Aorta
50	chr4:187643000-187643400	Enhancers	Left Ventricle	heart

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