Variant report

Variant	esv1001550
Chromosome Location	chr4:88074416-88078567
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:88078325..88080937-chr4:88140370..88142263,2	K562	blood:
2	chr4:88074161..88076670-chr4:88078019..88080367,3	K562	blood:
3	chr4:88074161..88076670-chr4:88078019..88080367,3	K562	blood:
4	chr4:88071680..88075661-chr4:88075865..88079519,3	K562	blood:
5	chr4:88074398..88076033-chr4:88140521..88142472,2	MCF-7	breast:
6	chr4:88071680..88075661-chr4:88075865..88079519,3	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLHL8-2	chr4:88074663-88075026	ucscGeneNc_uc003hqf_1

No data

Variant related genes	Relation type
ENSG00000145332	chromatin interactions

Extended variants
information (count: 133 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564795551	chr4:88074434-88074435	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs149375121	chr4:88074493-88074494	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs190918431	chr4:88074554-88074555	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs561525307	chr4:88074577-88074578	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs144812172	chr4:88074630-88074631	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs56013617	chr4:88074664-88074665	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs562722639	chr4:88074726-88074727	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs532933262	chr4:88074750-88074751	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs551139682	chr4:88074817-88074818	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs182430240	chr4:88074892-88074893	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs187071639	chr4:88074908-88074909	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs191911371	chr4:88074910-88074911	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs546975229	chr4:88074954-88074955	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs76481170	chr4:88074986-88074987	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs534450593	chr4:88074989-88074990	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs184340858	chr4:88075045-88075046	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs75018091	chr4:88075087-88075088	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs575783225	chr4:88075093-88075094	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs77268290	chr4:88075103-88075104	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs376008094	chr4:88075164-88075165	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs147330924	chr4:88075166-88075167	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs573627790	chr4:88075172-88075173	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs540525233	chr4:88075205-88075206	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs545742718	chr4:88075228-88075229	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs561736532	chr4:88075251-88075252	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs534320626	chr4:88075277-88075278	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs138521363	chr4:88075278-88075279	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs188554325	chr4:88075309-88075310	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs76887770	chr4:88075334-88075335	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs562473778	chr4:88075359-88075360	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs532848944	chr4:88075361-88075362	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs562334361	chr4:88075373-88075374	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs58632395	chr4:88075389-88075390	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs559867752	chr4:88075433-88075434	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs193242387	chr4:88075453-88075454	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs553026893	chr4:88075459-88075460	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs6841004	chr4:88075561-88075562	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs568463794	chr4:88075586-88075587	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs535506203	chr4:88075592-88075593	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs550934266	chr4:88075599-88075600	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs150715948	chr4:88075684-88075685	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs78375979	chr4:88075700-88075701	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs185678127	chr4:88075719-88075720	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs558388664	chr4:88075720-88075721	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs139118121	chr4:88075744-88075745	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs534526712	chr4:88075745-88075746	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs149905381	chr4:88075763-88075764	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs189358919	chr4:88075772-88075773	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs544896720	chr4:88075923-88075924	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs543902866	chr4:88075938-88075939	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	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
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
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
Pancreatic cancer	17952125	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88053600-88082000	Weak transcription	HSMM	muscle
2	chr4:88055200-88102800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:88056600-88090600	Weak transcription	Brain Angular Gyrus	brain
4	chr4:88058200-88082400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:88058200-88109000	Weak transcription	Lung	lung
6	chr4:88058600-88084200	Weak transcription	Brain Anterior Caudate	brain
7	chr4:88058800-88082400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr4:88058800-88088400	Weak transcription	Thymus	Thymus
9	chr4:88058800-88092200	Weak transcription	Colonic Mucosa	Colon
10	chr4:88059000-88086600	Weak transcription	A549	lung
11	chr4:88059200-88087800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:88059200-88088000	Weak transcription	Fetal Stomach	stomach
13	chr4:88059200-88100800	Weak transcription	Osteobl	bone
14	chr4:88061200-88082200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:88061400-88084000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:88061400-88109400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr4:88062600-88084400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr4:88063000-88090800	Weak transcription	Left Ventricle	heart
19	chr4:88063000-88090800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:88063200-88088400	Weak transcription	Ovary	ovary
21	chr4:88063200-88097400	Weak transcription	Small Intestine	intestine
22	chr4:88063200-88102000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:88063800-88083600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr4:88063800-88087800	Weak transcription	Primary T cells from cord blood	blood
25	chr4:88064200-88082800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:88064200-88090000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr4:88064200-88098800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr4:88064200-88100400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr4:88064400-88084400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr4:88064400-88092600	Weak transcription	HUVEC	blood vessel
31	chr4:88065600-88088200	Weak transcription	GM12878-XiMat	blood
32	chr4:88066000-88081200	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr4:88066200-88097200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:88066200-88101000	Weak transcription	HMEC	breast
35	chr4:88066600-88082800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr4:88066600-88082800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr4:88066600-88084000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr4:88066600-88089800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:88066800-88084200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr4:88066800-88084400	Weak transcription	K562	blood
41	chr4:88066800-88084600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr4:88066800-88093000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr4:88067000-88080600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr4:88067000-88089400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr4:88067400-88083000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:88067600-88082600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr4:88067600-88084400	Weak transcription	Primary B cells from cord blood	blood
48	chr4:88067600-88087400	Weak transcription	Fetal Thymus	thymus
49	chr4:88067600-88096800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:88067800-88084400	Weak transcription	Dnd41	blood

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