Variant report

Variant	esv3367258
Chromosome Location	chr4:127749396-127772702
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:127716621..127718255-chr4:127771445..127774248,2	K562	blood:
2	chr4:127765926..127767639-chr4:127769595..127772371,2	K562	blood:
3	chr4:127764319..127766522-chr4:127767801..127769304,2	K562	blood:
4	chr4:127761402..127763975-chr4:127765998..127768528,2	K562	blood:
5	chr4:127748775..127750518-chr4:127761705..127763347,2	K562	blood:
6	chr4:127761402..127763975-chr4:127765998..127768528,2	K562	blood:
7	chr4:127761821..127763813-chr4:127877198..127878709,2	K562	blood:
8	chr4:127765926..127767639-chr4:127769595..127772371,2	K562	blood:
9	chr4:127699055..127701009-chr4:127763669..127766462,2	K562	blood:
10	chr4:127748775..127750518-chr4:127761705..127763347,2	K562	blood:
11	chr4:127743580..127745854-chr4:127762876..127765537,2	K562	blood:
12	chr4:127771841..127773556-chr4:127876449..127879979,3	K562	blood:
13	chr4:127740793..127742611-chr4:127770185..127771905,2	K562	blood:
14	chr4:127753877..127756551-chr4:127761614..127765337,3	K562	blood:
15	chr4:127771990..127773680-chr4:127776900..127779323,2	K562	blood:
16	chr4:127695737..127697601-chr4:127770299..127773125,2	K562	blood:
17	chr4:127764319..127766522-chr4:127767801..127769304,2	K562	blood:
18	chr4:127753877..127756551-chr4:127761614..127765337,3	K562	blood:

No data

Extended variants
information (count: 974 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:974 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188272630	chr4:127749461-127749462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548025696	chr4:127749498-127749499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35481341	chr4:127749499-127749500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146158468	chr4:127749504-127749505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567877037	chr4:127749523-127749524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563417708	chr4:127749599-127749600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112204564	chr4:127749615-127749616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34808981	chr4:127749631-127749632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549547346	chr4:127749638-127749639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76951419	chr4:127749642-127749643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2134644	chr4:127749648-127749649	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs11432821	chr4:127749662-127749663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs398107972	chr4:127749673-127749674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75538955	chr4:127749679-127749680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78651859	chr4:127749711-127749712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576239260	chr4:127749712-127749713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543420305	chr4:127749717-127749718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114911176	chr4:127749748-127749749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74842347	chr4:127749779-127749780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2134645	chr4:127749816-127749817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs76491594	chr4:127749818-127749819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554822129	chr4:127749839-127749840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533355965	chr4:127749853-127749854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551594953	chr4:127749875-127749876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2174184	chr4:127749884-127749885	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs115565326	chr4:127749890-127749891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142417735	chr4:127749895-127749896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567505735	chr4:127749902-127749903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62322229	chr4:127749954-127749955	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs553777217	chr4:127749984-127749985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76274770	chr4:127749997-127749998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191407867	chr4:127750008-127750009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79780949	chr4:127750051-127750052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536719502	chr4:127750071-127750072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576326136	chr4:127750079-127750080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183615987	chr4:127750105-127750106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72923261	chr4:127750170-127750171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs536583647	chr4:127750208-127750209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369171133	chr4:127750240-127750241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541064143	chr4:127750241-127750242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187524155	chr4:127750245-127750246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533475967	chr4:127750262-127750263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115710852	chr4:127750291-127750292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs55712703	chr4:127750297-127750298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs554880618	chr4:127750313-127750314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531016670	chr4:127750373-127750374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192441157	chr4:127750376-127750377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377386879	chr4:127750382-127750383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534653477	chr4:127750402-127750403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567793263	chr4:127750403-127750404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127716000-127756000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:127738400-127750600	Weak transcription	K562	blood
3	chr4:127750600-127751000	ZNF genes & repeats	K562	blood
4	chr4:127751000-127764000	Weak transcription	K562	blood
5	chr4:127756000-127756600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:127759800-127760800	Enhancers	Osteobl	bone
7	chr4:127759800-127761000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:127760000-127760600	Enhancers	HSMM	muscle
9	chr4:127760000-127761000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:127760000-127761000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:127760000-127761000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr4:127760000-127761000	Enhancers	NH-A	brain
13	chr4:127760000-127761200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:127760000-127761400	Enhancers	NHDF-Ad	bronchial
15	chr4:127760200-127760800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:127760200-127761200	Enhancers	NHLF	lung
17	chr4:127760400-127761200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:127761200-127764200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:127764000-127765400	ZNF genes & repeats	K562	blood
20	chr4:127764200-127765200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:127764600-127765000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:127765000-127765400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:127765200-127771600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:127765400-127765600	Weak transcription	K562	blood
25	chr4:127765600-127766600	ZNF genes & repeats	K562	blood
26	chr4:127767200-127767600	ZNF genes & repeats	K562	blood
27	chr4:127767400-127770600	Weak transcription	HMEC	breast
28	chr4:127767600-127770600	Weak transcription	K562	blood
29	chr4:127770000-127770200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:127770200-127772200	Enhancers	Osteobl	bone
31	chr4:127770200-127772800	Enhancers	NHEK	skin
32	chr4:127770200-127773000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:127770200-127773200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:127770200-127773400	Enhancers	NH-A	brain
35	chr4:127770200-127773400	Enhancers	NHDF-Ad	bronchial
36	chr4:127770400-127772800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:127770600-127771000	ZNF genes & repeats	K562	blood
38	chr4:127770600-127771800	Enhancers	NHLF	lung
39	chr4:127770600-127772600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:127770600-127773400	Enhancers	HMEC	breast
41	chr4:127770800-127772200	Enhancers	HUVEC	blood vessel
42	chr4:127770800-127772600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr4:127771000-127771400	Weak transcription	K562	blood
44	chr4:127771000-127772400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:127771200-127772000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr4:127771200-127772400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:127771400-127773200	Enhancers	K562	blood
48	chr4:127771600-127771800	Enhancers	Pancreas	Pancrea
49	chr4:127771600-127772000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:127771600-127772000	Enhancers	Hela-S3	cervix

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