Variant report

Variant	esv999120
Chromosome Location	chr4:87646090-87653014
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 264 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370486997	chr4:87646094-87646095	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370907570	chr4:87646095-87646096	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572169744	chr4:87646161-87646162	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374539005	chr4:87646162-87646163	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561026487	chr4:87646165-87646166	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531554394	chr4:87646166-87646167	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs367611472	chr4:87646167-87646168	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376117998	chr4:87646191-87646192	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34042002	chr4:87646204-87646205	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191342171	chr4:87646311-87646312	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111257522	chr4:87646357-87646358	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532342748	chr4:87646401-87646402	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183290168	chr4:87646418-87646419	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185549376	chr4:87646433-87646434	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533987779	chr4:87646451-87646452	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146368521	chr4:87646484-87646485	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567491500	chr4:87646492-87646493	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538027267	chr4:87646493-87646494	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373713904	chr4:87646497-87646498	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189910741	chr4:87646498-87646499	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539012277	chr4:87646543-87646544	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553684090	chr4:87646577-87646578	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572082255	chr4:87646591-87646592	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542712617	chr4:87646600-87646601	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560989709	chr4:87646657-87646658	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576235444	chr4:87646732-87646733	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182166955	chr4:87646743-87646744	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564976597	chr4:87646751-87646752	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532387758	chr4:87646761-87646762	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367666380	chr4:87646800-87646801	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372442548	chr4:87646810-87646811	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560079121	chr4:87646844-87646845	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527700129	chr4:87646892-87646893	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548993267	chr4:87646930-87646931	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28769973	chr4:87646932-87646933	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs374463795	chr4:87646939-87646940	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531732604	chr4:87646954-87646955	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142987354	chr4:87646968-87646969	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553788271	chr4:87646998-87646999	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546238427	chr4:87647004-87647005	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539279898	chr4:87647005-87647006	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188016248	chr4:87647015-87647016	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538924078	chr4:87647073-87647074	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565653073	chr4:87647112-87647113	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570409194	chr4:87647219-87647220	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536234321	chr4:87647228-87647229	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539670543	chr4:87647261-87647262	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs151111666	chr4:87647263-87647264	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368052899	chr4:87647304-87647305	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192476433	chr4:87647337-87647338	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87592400-87656400	Weak transcription	Adipose Nuclei	Adipose
2	chr4:87594400-87659800	Weak transcription	Ovary	ovary
3	chr4:87595200-87651200	Weak transcription	Fetal Stomach	stomach
4	chr4:87625200-87651600	Weak transcription	Esophagus	oesophagus
5	chr4:87631200-87712200	Weak transcription	Aorta	Aorta
6	chr4:87635200-87737400	Weak transcription	Fetal Brain Male	brain
7	chr4:87635400-87648200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:87635600-87651600	Weak transcription	Lung	lung
9	chr4:87636400-87683800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr4:87637200-87661200	Weak transcription	Pancreas	Pancrea
11	chr4:87639200-87688000	Weak transcription	Fetal Intestine Large	intestine
12	chr4:87639400-87739200	Weak transcription	A549	lung
13	chr4:87640200-87652000	Weak transcription	HMEC	breast
14	chr4:87641600-87660400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:87641800-87648400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:87641800-87683400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr4:87642000-87651200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:87642000-87651600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr4:87642000-87651600	Weak transcription	Gastric	stomach
20	chr4:87642000-87655200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:87642000-87661000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr4:87642200-87692600	Weak transcription	NH-A	brain
23	chr4:87642400-87648400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:87642400-87735800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr4:87642600-87650800	Weak transcription	Brain Hippocampus Middle	brain
26	chr4:87642600-87661000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr4:87642600-87661200	Weak transcription	Brain Germinal Matrix	brain
28	chr4:87642600-87692400	Weak transcription	Colon Smooth Muscle	Colon
29	chr4:87642600-87697600	Weak transcription	Brain Angular Gyrus	brain
30	chr4:87642600-87719200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr4:87642800-87652200	Weak transcription	Brain Substantia Nigra	brain
32	chr4:87643000-87647000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr4:87643200-87647800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:87643600-87648600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr4:87644400-87661200	Weak transcription	Osteobl	bone
36	chr4:87644600-87651400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:87644600-87651400	Weak transcription	Fetal Lung	lung
38	chr4:87644600-87651600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:87644600-87656400	Weak transcription	Brain Anterior Caudate	brain
40	chr4:87644600-87660200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:87644600-87661000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr4:87644600-87680600	Weak transcription	NHLF	lung
43	chr4:87644800-87646600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr4:87644800-87646800	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr4:87644800-87651400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr4:87644800-87651600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr4:87644800-87651600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:87644800-87651600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr4:87644800-87651600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr4:87644800-87651600	Weak transcription	Fetal Intestine Small	intestine

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