Variant report

Variant	esv3331997
Chromosome Location	chr4:187407929-187408419
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147296058	chr4:187407969-187407970	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561276918	chr4:187407984-187407985	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs57236953	chr4:187408025-187408026	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs190638466	chr4:187408040-187408041	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs57215574	chr4:187408048-187408049	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs181850512	chr4:187408050-187408051	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs61308854	chr4:187408068-187408069	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs569016337	chr4:187408072-187408073	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs564374041	chr4:187408074-187408075	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs6841525	chr4:187408076-187408077	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs61303091	chr4:187408084-187408085	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs61110941	chr4:187408091-187408092	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs532374519	chr4:187408100-187408101	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs556394566	chr4:187408112-187408113	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs6841687	chr4:187408115-187408116	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs552557357	chr4:187408120-187408121	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs562774028	chr4:187408121-187408122	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs373344948	chr4:187408123-187408124	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs186447609	chr4:187408133-187408134	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs6816445	chr4:187408137-187408138	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs548439159	chr4:187408138-187408139	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs568303647	chr4:187408139-187408140	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs111535700	chr4:187408142-187408143	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs6841708	chr4:187408156-187408157	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs6816156	chr4:187408161-187408162	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs376805494	chr4:187408191-187408192	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs6841869	chr4:187408198-187408199	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs6816318	chr4:187408210-187408211	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs534130343	chr4:187408231-187408232	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs547659000	chr4:187408236-187408237	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs62348932	chr4:187408241-187408242	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs370936517	chr4:187408328-187408329	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs374028367	chr4:187408332-187408333	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs570827944	chr4:187408396-187408397	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Breast cancer	22522925	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187395400-187413600	Weak transcription	K562	blood
2	chr4:187406200-187408000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:187406200-187408000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:187406200-187408000	Active TSS	Brain Cingulate Gyrus	brain
5	chr4:187406200-187408000	Active TSS	Brain Substantia Nigra	brain
6	chr4:187406200-187409400	Active TSS	Brain Anterior Caudate	brain
7	chr4:187406600-187408000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:187406800-187408000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:187406800-187408000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:187406800-187408000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:187406800-187408000	Enhancers	Pancreas	Pancrea
12	chr4:187407000-187408000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:187407000-187409200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:187407200-187408000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:187407200-187408000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr4:187407200-187408000	Active TSS	Brain Hippocampus Middle	brain
17	chr4:187407200-187408200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:187407400-187408000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr4:187407400-187408000	Bivalent Enhancer	HMEC	breast
20	chr4:187407400-187408000	Bivalent Enhancer	HSMMtube	muscle
21	chr4:187407400-187408200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr4:187407600-187408000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr4:187407600-187408000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:187407600-187408000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
25	chr4:187407600-187408000	Active TSS	Fetal Brain Female	brain
26	chr4:187407800-187408000	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr4:187407800-187408000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:187407800-187408000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:187407800-187408000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:187407800-187408000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
31	chr4:187407800-187408000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:187407800-187408000	Flanking Active TSS	Brain Angular Gyrus	brain
33	chr4:187407800-187408000	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr4:187407800-187408000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr4:187407800-187408000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr4:187407800-187408000	Enhancers	Fetal Stomach	stomach
37	chr4:187407800-187408000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
38	chr4:187407800-187408000	Active TSS	NH-A	brain
39	chr4:187407800-187408200	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr4:187408000-187408200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
41	chr4:187408000-187408200	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr4:187408000-187408200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:187408000-187408200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:187408000-187409400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr4:187408000-187410400	Weak transcription	Fetal Stomach	stomach
46	chr4:187408200-187409400	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr4:187408200-187409400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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