Variant report

Variant	esv3330372
Chromosome Location	chr4:187179493-187180035
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188802095	chr4:187179496-187179497	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs560960656	chr4:187179506-187179507	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs181521872	chr4:187179512-187179513	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs143533462	chr4:187179530-187179531	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs566568062	chr4:187179543-187179544	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs538699816	chr4:187179547-187179548	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs552244411	chr4:187179573-187179574	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs541156410	chr4:187179609-187179610	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs186263767	chr4:187179623-187179624	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs3822055	chr4:187179678-187179679	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs555226102	chr4:187179715-187179716	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs574996393	chr4:187179738-187179739	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs530212042	chr4:187179740-187179741	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs116176517	chr4:187179742-187179743	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs4253390	chr4:187179764-187179765	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs554025712	chr4:187179780-187179781	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs200234917	chr4:187179794-187179795	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs533571051	chr4:187179800-187179801	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs4253332	chr4:187179803-187179804	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs562588944	chr4:187179822-187179823	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190599359	chr4:187179849-187179850	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563871255	chr4:187179850-187179851	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141763838	chr4:187179851-187179852	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181944371	chr4:187179881-187179882	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529902852	chr4:187179888-187179889	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546770119	chr4:187179900-187179901	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187392270	chr4:187179972-187179973	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145942949	chr4:187179973-187179974	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs4253391	chr4:187179986-187179987	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	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
Metanephric adenoma	20802469	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
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	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
Pancreatic cancer	17952125	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187131800-187181600	Weak transcription	Brain Hippocampus Middle	brain
2	chr4:187149800-187181600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr4:187149800-187186800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr4:187150200-187187200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr4:187151000-187187200	Weak transcription	Colon Smooth Muscle	Colon
6	chr4:187154000-187182000	Weak transcription	Primary T cells from cord blood	blood
7	chr4:187158400-187181400	Weak transcription	Fetal Intestine Large	intestine
8	chr4:187170000-187179800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr4:187170000-187180200	Weak transcription	Brain Angular Gyrus	brain
10	chr4:187170800-187182000	Weak transcription	Right Ventricle	heart
11	chr4:187171200-187182000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:187171400-187182000	Weak transcription	Spleen	Spleen
13	chr4:187171600-187182000	Weak transcription	Gastric	stomach
14	chr4:187171800-187181000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr4:187172000-187182000	Weak transcription	Adipose Nuclei	Adipose
16	chr4:187172200-187182000	Weak transcription	Esophagus	oesophagus
17	chr4:187173400-187179600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr4:187173400-187180200	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr4:187173600-187181200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:187173600-187181600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:187173600-187181600	Weak transcription	Psoas Muscle	Psoas
22	chr4:187173600-187182000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr4:187173600-187182000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:187173800-187181000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr4:187173800-187182000	Weak transcription	Left Ventricle	heart
26	chr4:187175400-187180200	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr4:187177400-187180400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:187177400-187191800	Weak transcription	Right Atrium	heart
29	chr4:187178400-187180200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr4:187178600-187179800	Enhancers	Liver	Liver
31	chr4:187178800-187180000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
32	chr4:187178800-187180400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr4:187179000-187180000	Strong transcription	Brain Anterior Caudate	brain
34	chr4:187179000-187181400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr4:187179200-187179600	Strong transcription	Fetal Intestine Small	intestine
36	chr4:187179200-187179800	Strong transcription	Brain Cingulate Gyrus	brain
37	chr4:187179200-187180000	ZNF genes & repeats	Lung	lung
38	chr4:187179200-187180400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:187179400-187179800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:187179400-187179800	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr4:187179400-187180200	Enhancers	Pancreas	Pancrea
42	chr4:187179400-187180200	Enhancers	HepG2	liver
43	chr4:187179600-187180200	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr4:187179600-187181200	Weak transcription	Fetal Intestine Small	intestine
45	chr4:187179800-187180200	Flanking Active TSS	Liver	Liver
46	chr4:187179800-187181400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr4:187179800-187182000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr4:187180000-187181800	Weak transcription	Brain Anterior Caudate	brain
49	chr4:187180000-187185400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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