Variant report

Variant	esv2295360
Chromosome Location	chr4:8366060-8366449
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8362353..8364168-chr4:8365634..8367261,2	K562	blood:
2	chr4:8308134..8310233-chr4:8366379..8367956,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACOX3-5	chr4:8365860-8366475	NONHSAT095091

Extended variants
information (count: 27 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575596961	chr4:8366071-8366072	Strong transcription Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs536097538	chr4:8366102-8366103	Strong transcription Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs554861091	chr4:8366125-8366126	Strong transcription Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs142070114	chr4:8366174-8366175	Strong transcription Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs537076121	chr4:8366218-8366219	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
6	rs57254469	chr4:8366220-8366221	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs577050965	chr4:8366221-8366222	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
8	rs374342203	chr4:8366227-8366228	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
9	rs575394358	chr4:8366231-8366232	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
10	rs11730528	chr4:8366235-8366236	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs575094522	chr4:8366238-8366239	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
12	rs79811931	chr4:8366240-8366241	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
13	rs55727136	chr4:8366241-8366242	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
14	rs60905273	chr4:8366245-8366246	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
15	rs57751063	chr4:8366252-8366253	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
16	rs78099127	chr4:8366265-8366266	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	mRNA abundance
17	rs564030551	chr4:8366272-8366273	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
18	rs60811064	chr4:8366273-8366274	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
19	rs55999289	chr4:8366276-8366277	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
20	rs575528857	chr4:8366293-8366294	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
21	rs113899156	chr4:8366311-8366312	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
22	rs191597705	chr4:8366317-8366318	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
23	rs148029941	chr4:8366339-8366340	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
24	rs184866549	chr4:8366340-8366341	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
25	rs140850789	chr4:8366392-8366393	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
26	rs145689106	chr4:8366408-8366409	Strong transcription Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs548162385	chr4:8366429-8366430	Strong transcription Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Melanoma	20688739	CNVD
Wilms tumour	21544195	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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8353400-8366200	Weak transcription	Aorta	Aorta
2	chr4:8354200-8366200	Weak transcription	Brain Substantia Nigra	brain
3	chr4:8354400-8367000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr4:8354400-8367200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:8354600-8381000	Weak transcription	Right Atrium	heart
6	chr4:8355000-8366200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:8355800-8366200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr4:8355800-8384800	Weak transcription	Fetal Lung	lung
9	chr4:8356200-8366200	Weak transcription	Thymus	Thymus
10	chr4:8358400-8366200	Weak transcription	HSMM	muscle
11	chr4:8358400-8366200	Weak transcription	HSMMtube	muscle
12	chr4:8358400-8366800	Weak transcription	Colon Smooth Muscle	Colon
13	chr4:8358600-8368200	Weak transcription	Fetal Kidney	kidney
14	chr4:8359000-8367200	Weak transcription	Gastric	stomach
15	chr4:8359200-8366800	Weak transcription	Brain Germinal Matrix	brain
16	chr4:8359800-8371800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr4:8360200-8366200	Weak transcription	Ovary	ovary
18	chr4:8360200-8367000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr4:8360400-8366200	Weak transcription	Brain Anterior Caudate	brain
20	chr4:8360400-8367000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:8360400-8394000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:8360400-8395600	Weak transcription	NHEK	skin
23	chr4:8361400-8366600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:8361800-8366600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:8362000-8395400	Weak transcription	Fetal Brain Male	brain
26	chr4:8362600-8366200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:8362800-8380200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:8363000-8367200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:8363200-8367000	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr4:8363600-8366200	Weak transcription	Primary T cells from cord blood	blood
31	chr4:8363600-8366600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr4:8363800-8367600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr4:8363800-8368400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:8363800-8369800	Weak transcription	Psoas Muscle	Psoas
35	chr4:8364000-8383400	Weak transcription	Colonic Mucosa	Colon
36	chr4:8364000-8388600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr4:8364200-8387000	Weak transcription	Dnd41	blood
38	chr4:8364600-8366200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr4:8364600-8366200	Weak transcription	Fetal Intestine Small	intestine
40	chr4:8364600-8366400	Enhancers	Fetal Heart	heart
41	chr4:8364600-8376800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:8364600-8378200	Weak transcription	NH-A	brain
43	chr4:8364800-8366200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:8364800-8366800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:8364800-8387000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr4:8364800-8392400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:8365000-8372600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr4:8365000-8382800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr4:8365000-8385000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr4:8365200-8366800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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