Variant report

Variant	esv1803586
Chromosome Location	chr4:86503425-86516352
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:86512935..86515242-chr4:86516112..86518859,2	K562	blood:
2	chr4:86497193..86499819-chr4:86506263..86509883,3	K562	blood:
3	chr4:86500513..86506066-chr4:86507580..86511443,7	K562	blood:
4	chr4:86512935..86515242-chr4:86516112..86518859,2	K562	blood:
5	chr4:86500513..86506066-chr4:86507580..86511443,7	K562	blood:
6	chr4:86498940..86503292-chr4:86514616..86519116,5	K562	blood:
7	chr4:86501012..86504553-chr4:86506975..86511546,6	K562	blood:
8	chr4:86513228..86515931-chr4:86524636..86526481,2	K562	blood:
9	chr4:86501012..86504553-chr4:86506975..86511546,6	K562	blood:
10	chr4:86493575..86496357-chr4:86507974..86509773,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000138639	chromatin interactions

Extended variants
information (count: 466 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:466 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570971450	chr4:86503457-86503458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535090838	chr4:86503521-86503522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147433850	chr4:86503556-86503557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565720918	chr4:86503557-86503558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139730183	chr4:86503560-86503561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1351551	chr4:86503566-86503567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs575885195	chr4:86503570-86503571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182483805	chr4:86503596-86503597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541263857	chr4:86503615-86503616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs202079344	chr4:86503629-86503630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540704771	chr4:86503670-86503671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559932880	chr4:86503673-86503674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530223871	chr4:86503774-86503775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542559755	chr4:86503809-86503810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563832436	chr4:86503851-86503852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72979947	chr4:86503856-86503857	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs367881169	chr4:86503885-86503886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570835197	chr4:86503917-86503918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529278924	chr4:86503927-86503928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201504638	chr4:86503983-86503984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577318939	chr4:86504105-86504106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35527668	chr4:86504133-86504134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144642058	chr4:86504141-86504142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547521572	chr4:86504178-86504179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546387675	chr4:86504242-86504243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565912046	chr4:86504316-86504317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72979948	chr4:86504376-86504377	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs554707857	chr4:86504476-86504477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569631340	chr4:86504510-86504511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556520646	chr4:86504570-86504571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148926309	chr4:86504617-86504618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142894658	chr4:86504618-86504619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576416395	chr4:86504624-86504625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187331203	chr4:86504685-86504686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552792703	chr4:86504761-86504762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574429883	chr4:86504765-86504766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542071270	chr4:86504781-86504782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs59249160	chr4:86504812-86504813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576033969	chr4:86504826-86504827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546501384	chr4:86504834-86504835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12651259	chr4:86504872-86504873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564512043	chr4:86504878-86504879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13149104	chr4:86504895-86504896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528489618	chr4:86504897-86504898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576218839	chr4:86504906-86504907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546926330	chr4:86504912-86504913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201875397	chr4:86504913-86504914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62315649	chr4:86504916-86504917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375067003	chr4:86504948-86504949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201589462	chr4:86504958-86504959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Prostate cancer	16573809	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86486000-86509200	Weak transcription	Left Ventricle	heart
2	chr4:86487000-86509200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:86487200-86521200	Weak transcription	HSMMtube	muscle
4	chr4:86488800-86512400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr4:86492600-86517000	Weak transcription	Adipose Nuclei	Adipose
6	chr4:86495000-86516200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:86495200-86512200	Weak transcription	NHDF-Ad	bronchial
8	chr4:86497400-86516800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:86498800-86512400	Weak transcription	Psoas Muscle	Psoas
10	chr4:86502000-86503600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:86502000-86505400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr4:86502000-86506000	Weak transcription	Primary B cells from cord blood	blood
13	chr4:86502000-86511600	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:86502000-86517200	Weak transcription	HSMM	muscle
15	chr4:86503600-86504400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:86504400-86512400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:86505400-86506400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
18	chr4:86506000-86507400	ZNF genes & repeats	Primary B cells from cord blood	blood
19	chr4:86506400-86507400	Strong transcription	Primary B cells from peripheral blood	blood
20	chr4:86507400-86507600	Strong transcription	Primary B cells from cord blood	blood
21	chr4:86507400-86509200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr4:86507600-86508800	Weak transcription	Primary B cells from cord blood	blood
23	chr4:86508800-86509400	Strong transcription	Primary B cells from cord blood	blood
24	chr4:86509000-86509400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr4:86509000-86509400	Enhancers	Spleen	Spleen
26	chr4:86509000-86509400	Enhancers	K562	blood
27	chr4:86509200-86509400	Enhancers	Left Ventricle	heart
28	chr4:86509200-86509600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:86509200-86509600	Enhancers	Primary B cells from peripheral blood	blood
30	chr4:86509200-86509600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr4:86509200-86509800	Enhancers	H9 Cell Line	embryonic stem cell
32	chr4:86509400-86510000	Weak transcription	Left Ventricle	heart
33	chr4:86509400-86512400	Weak transcription	Primary B cells from cord blood	blood
34	chr4:86509600-86516000	Weak transcription	Primary B cells from peripheral blood	blood
35	chr4:86511200-86511400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:86512200-86513200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr4:86512200-86513400	Enhancers	NHDF-Ad	bronchial
38	chr4:86512400-86512600	Enhancers	Fetal Muscle Trunk	muscle
39	chr4:86512400-86512600	Enhancers	Psoas Muscle	Psoas
40	chr4:86512400-86512800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:86512400-86512800	Enhancers	A549	lung
42	chr4:86512400-86513000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:86512400-86513000	Strong transcription	Primary B cells from cord blood	blood
44	chr4:86512400-86513000	Enhancers	Stomach Mucosa	stomach
45	chr4:86512400-86513200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr4:86512400-86513400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr4:86513000-86515400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:86513000-86516400	Weak transcription	Stomach Mucosa	stomach
49	chr4:86513000-86522600	Weak transcription	Primary B cells from cord blood	blood
50	chr4:86513200-86516200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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