Variant report

Variant	esv19126
Chromosome Location	chr4:54653249-54709054
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:54678928..54681395-chr4:54684729..54686903,2	K562	blood:
2	chr4:54678928..54681395-chr4:54684729..54686903,2	K562	blood:
3	chr4:54063475..54064115-chr4:54670630..54671704,5	K562	blood:
4	chr4:54662024..54664830-chr4:54666037..54667800,2	K562	blood:
5	chr4:54064541..54065429-chr4:54671103..54671657,2	K562	blood:
6	chr4:54572400..54573190-chr4:54670618..54671680,4	MCF-7	breast:
7	chr4:54662024..54664830-chr4:54666037..54667800,2	K562	blood:

Extended variants
information (count: 1185 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1185 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181633828	chr4:54653256-54653257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs62297730	chr4:54653257-54653258	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs115418334	chr4:54653279-54653280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552744598	chr4:54653291-54653292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566469828	chr4:54653333-54653334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28538396	chr4:54653345-54653346	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs558154296	chr4:54653386-54653387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574860078	chr4:54653398-54653399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544181132	chr4:54653422-54653423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373222615	chr4:54653435-54653436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112447505	chr4:54653475-54653476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184282067	chr4:54653542-54653543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567512370	chr4:54653576-54653577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574475299	chr4:54653581-54653582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540512772	chr4:54653597-54653598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2102011	chr4:54653620-54653621	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs12647202	chr4:54653632-54653633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200296778	chr4:54653665-54653666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149958250	chr4:54653666-54653667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs578214051	chr4:54653740-54653741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546490716	chr4:54653746-54653747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2088582	chr4:54653803-54653804	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs190798135	chr4:54653806-54653807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112327627	chr4:54653807-54653808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145047157	chr4:54653844-54653845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141103737	chr4:54653845-54653846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527775479	chr4:54653868-54653869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546398352	chr4:54653903-54653904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113635975	chr4:54653944-54653945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538561834	chr4:54653947-54653948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113061625	chr4:54653961-54653962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144620213	chr4:54653967-54653968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs55899432	chr4:54653969-54653970	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs554542184	chr4:54653974-54653975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73159241	chr4:54653993-54653994	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs533823224	chr4:54654042-54654043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77355346	chr4:54654153-54654154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs17083478	chr4:54654162-54654163	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs546401108	chr4:54654280-54654281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74470888	chr4:54654316-54654317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182121687	chr4:54654334-54654335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541897569	chr4:54654356-54654357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62297731	chr4:54654363-54654364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186106015	chr4:54654364-54654365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547452370	chr4:54654429-54654430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538805429	chr4:54654447-54654448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148352394	chr4:54654473-54654474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532203535	chr4:54654494-54654495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73817107	chr4:54654547-54654548	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs569101434	chr4:54654559-54654560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Hodgkin''s lymphoma	17606441	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
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	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
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	19115005	CNVD
Glioblastoma multiforme	21525872	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164919	CNVD
Gastrointestinal stromal cancer	17527083	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17209131	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54648600-54655600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:54650600-54654600	Enhancers	NHDF-Ad	bronchial
3	chr4:54651000-54653600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:54651000-54654200	Enhancers	Fetal Stomach	stomach
5	chr4:54651400-54653600	Enhancers	Ovary	ovary
6	chr4:54651400-54654400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:54651400-54654600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:54651800-54653800	Enhancers	NHLF	lung
9	chr4:54651800-54654200	Enhancers	Placenta	Placenta
10	chr4:54652000-54653600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:54652200-54653400	Enhancers	Fetal Muscle Leg	muscle
12	chr4:54652200-54653600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr4:54652400-54653400	Enhancers	Fetal Kidney	kidney
14	chr4:54652400-54653600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:54652400-54653600	Enhancers	Fetal Lung	lung
16	chr4:54652400-54653600	Enhancers	Osteobl	bone
17	chr4:54652400-54653800	Enhancers	HSMMtube	muscle
18	chr4:54652400-54654400	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr4:54652600-54654200	Enhancers	Colon Smooth Muscle	Colon
20	chr4:54652800-54653400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr4:54652800-54653400	Enhancers	Lung	lung
22	chr4:54652800-54653600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:54652800-54653600	Enhancers	Rectal Smooth Muscle	rectum
24	chr4:54652800-54653600	Enhancers	Stomach Mucosa	stomach
25	chr4:54652800-54653600	Enhancers	Stomach Smooth Muscle	stomach
26	chr4:54652800-54653600	Enhancers	HSMM	muscle
27	chr4:54653000-54653400	Enhancers	Right Atrium	heart
28	chr4:54653000-54653800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:54653200-54653400	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr4:54653200-54655200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr4:54653400-54654400	Weak transcription	Fetal Muscle Leg	muscle
32	chr4:54653400-54654400	Weak transcription	Lung	lung
33	chr4:54653400-54655200	Weak transcription	Fetal Kidney	kidney
34	chr4:54653600-54657400	Weak transcription	Osteobl	bone
35	chr4:54653600-54659000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr4:54653800-54654200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:54653800-54654200	Weak transcription	HSMMtube	muscle
38	chr4:54653800-54654200	Weak transcription	NHLF	lung
39	chr4:54654200-54654400	Enhancers	Brain Hippocampus Middle	brain
40	chr4:54654200-54654400	Enhancers	HSMMtube	muscle
41	chr4:54654200-54655000	Weak transcription	Placenta	Placenta
42	chr4:54654200-54655200	Enhancers	NHLF	lung
43	chr4:54654200-54655800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:54654400-54654600	Enhancers	Lung	lung
45	chr4:54654400-54655800	Weak transcription	Brain Hippocampus Middle	brain
46	chr4:54654400-54656200	Enhancers	Fetal Muscle Leg	muscle
47	chr4:54654400-54659000	Weak transcription	HSMMtube	muscle
48	chr4:54654600-54657200	Weak transcription	NHDF-Ad	bronchial
49	chr4:54655000-54655200	Enhancers	Placenta	Placenta
50	chr4:54655000-54655200	Enhancers	Right Ventricle	heart

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