Variant report

Variant	esv1808449
Chromosome Location	chr4:187844162-187859265
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:187702948..187705032-chr4:187853740..187855963,2	K562	blood:
2	chr4:187838828..187841268-chr4:187853169..187855944,2	K562	blood:
3	chr4:187648351..187650879-chr4:187855816..187858244,2	MCF-7	breast:
4	chr4:187676723..187679624-chr4:187847276..187848972,2	K562	blood:
5	chr4:187848247..187850848-chr4:187854272..187856829,2	K562	blood:
6	chr4:187647203..187650083-chr4:187858614..187861044,2	MCF-7	breast:
7	chr4:187848247..187850848-chr4:187854272..187856829,2	K562	blood:
8	chr4:187844136..187846877-chr4:187850742..187852747,2	K562	blood:
9	chr4:187844136..187846877-chr4:187850742..187852747,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000083857	chromatin interactions

Extended variants
information (count: 724 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:724 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115570227	chr4:187844205-187844206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561588514	chr4:187844216-187844217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28630014	chr4:187844250-187844251	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs527497077	chr4:187844285-187844286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs28459985	chr4:187844308-187844309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs111601792	chr4:187844323-187844324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553874855	chr4:187844324-187844325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533093628	chr4:187844336-187844337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549657179	chr4:187844364-187844365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572121356	chr4:187844365-187844366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568959826	chr4:187844409-187844410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146260637	chr4:187844440-187844441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs56302789	chr4:187844454-187844455	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs568426454	chr4:187844472-187844473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190869729	chr4:187844484-187844485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369994564	chr4:187844495-187844496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182322304	chr4:187844528-187844529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373840156	chr4:187844545-187844546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs55748946	chr4:187844555-187844556	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs540176391	chr4:187844582-187844583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556892075	chr4:187844595-187844596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73873955	chr4:187844616-187844617	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs77746397	chr4:187844671-187844672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187815235	chr4:187844695-187844696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149450429	chr4:187844755-187844756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13120749	chr4:187844763-187844764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564924124	chr4:187844782-187844783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13147770	chr4:187844784-187844785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192765017	chr4:187844786-187844787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532401221	chr4:187844793-187844794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564169391	chr4:187844794-187844795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373126197	chr4:187844872-187844873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116093755	chr4:187844873-187844874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10021486	chr4:187844889-187844890	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs11737089	chr4:187844911-187844912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs56137246	chr4:187844919-187844920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531610117	chr4:187844952-187844953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79515048	chr4:187844977-187844978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73873956	chr4:187845053-187845054	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs10033110	chr4:187845057-187845058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs372758625	chr4:187845081-187845082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547859770	chr4:187845083-187845084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571104582	chr4:187845101-187845102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539991680	chr4:187845108-187845109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556912210	chr4:187845129-187845130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570336463	chr4:187845135-187845136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536126193	chr4:187845148-187845149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555104796	chr4:187845239-187845240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571999203	chr4:187845240-187845241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534468159	chr4:187845276-187845277	Weak transcription	n/a	n/a	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
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
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
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
Oral cancer	21386901	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:319 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187837200-187863800	Weak transcription	Right Atrium	heart
2	chr4:187840000-187853400	Weak transcription	Fetal Kidney	kidney
3	chr4:187840400-187846000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:187842000-187845400	Weak transcription	Fetal Lung	lung
5	chr4:187842000-187852400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:187842200-187845400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:187842200-187845600	Weak transcription	HSMM	muscle
8	chr4:187842400-187845400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:187842400-187845400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr4:187842400-187845400	Weak transcription	NHDF-Ad	bronchial
11	chr4:187842400-187845400	Weak transcription	NHLF	lung
12	chr4:187842400-187845400	Weak transcription	Osteobl	bone
13	chr4:187842400-187846000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:187842600-187845400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:187842600-187845400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:187842600-187845800	Weak transcription	HSMMtube	muscle
17	chr4:187842600-187846000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:187842600-187846000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:187842600-187848600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:187842600-187852200	Weak transcription	HMEC	breast
21	chr4:187842800-187845800	Weak transcription	NHEK	skin
22	chr4:187844800-187845400	Weak transcription	NH-A	brain
23	chr4:187845200-187846000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:187845400-187845600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:187845400-187845800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:187845400-187845800	Enhancers	NHDF-Ad	bronchial
27	chr4:187845400-187846000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr4:187845400-187846200	Enhancers	NH-A	brain
29	chr4:187845400-187846200	Enhancers	Osteobl	bone
30	chr4:187845400-187846400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:187845400-187846400	Enhancers	Fetal Lung	lung
32	chr4:187845400-187846400	Enhancers	NHLF	lung
33	chr4:187845400-187846800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:187845600-187846000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:187845600-187846400	Enhancers	HSMM	muscle
36	chr4:187845800-187846200	Enhancers	Fetal Heart	heart
37	chr4:187845800-187846200	Enhancers	NHEK	skin
38	chr4:187845800-187846400	Enhancers	HSMMtube	muscle
39	chr4:187845800-187846400	Flanking Active TSS	NHDF-Ad	bronchial
40	chr4:187845800-187851200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:187846000-187846200	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr4:187846000-187846200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:187846000-187846200	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
44	chr4:187846000-187846400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr4:187846000-187846400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:187846000-187846400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:187846000-187846400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:187846000-187846400	Enhancers	Gastric	stomach
49	chr4:187846000-187850400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr4:187846200-187846400	Active TSS	Fetal Brain Male	brain

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