Variant report

Variant	esv1799708
Chromosome Location	chr4:110309234-110333106
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:7)
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	chr4:110308992..110311628-chr4:110320661..110323611,2	K562	blood:
2	chr4:109755680..109756598-chr4:110327200..110327701,2	K562	blood:
3	chr4:110052875..110055808-chr4:110318973..110320982,2	K562	blood:
4	chr4:110308992..110311628-chr4:110320661..110323611,2	K562	blood:
5	chr4:109756000..109756548-chr4:110327208..110328105,3	MCF-7	breast:
6	chr4:110301963..110304233-chr4:110317215..110319327,2	K562	blood:
7	chr4:110331995..110333806-chr4:110335263..110337273,2	K562	blood:
8	chr4:110324031..110326803-chr4:110333857..110336450,2	K562	blood:
9	chr4:109604556..109605268-chr4:110328773..110329331,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL25A1-1	chr4:110326806-110326929	ENSG00000247950
2	lnc-COL25A1-1	chr4:110317350-110317435	ENSG00000247950
3	lnc-COL25A1-1	chr4:110332460-110332709	ENSG00000247950
4	lnc-COL25A1-1	chr4:110317350-110317435	ENSG00000247950
5	lnc-COL25A1-1	chr4:110326806-110326929	ENSG00000247950
6	lnc-COL25A1-1	chr4:110317350-110317435	ENSG00000247950
7	lnc-COL25A1-1	chr4:110327730-110327839	ENSG00000247950

No data

Variant related genes	Relation type
ENSG00000247950	chromatin interactions
PABPC1	miRNA target sites
RAP2C	miRNA target sites
PCMTD2	miRNA target sites
SRPK2	miRNA target sites
KLF6	miRNA target sites

Extended variants
information (count: 788 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:788 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532662046	chr4:110309311-110309312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143464510	chr4:110309321-110309322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34075766	chr4:110309410-110309411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs62326006	chr4:110309484-110309485	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs150935867	chr4:110309528-110309529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548684028	chr4:110309530-110309531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182121392	chr4:110309558-110309559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115872714	chr4:110309569-110309570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs876464	chr4:110309570-110309571	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs10488879	chr4:110309667-110309668	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs115282760	chr4:110309715-110309716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376098740	chr4:110309734-110309735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539732060	chr4:110309745-110309746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556465250	chr4:110309780-110309781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79672838	chr4:110309836-110309837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541415791	chr4:110309859-110309860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79143225	chr4:110309991-110309992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78997683	chr4:110310025-110310026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs17040390	chr4:110310026-110310027	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs540866011	chr4:110310051-110310052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560289367	chr4:110310073-110310074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532701965	chr4:110310088-110310089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552466639	chr4:110310103-110310104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75400777	chr4:110310129-110310130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531733256	chr4:110310158-110310159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368742177	chr4:110310172-110310173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556197970	chr4:110310185-110310186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548282995	chr4:110310224-110310225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568588559	chr4:110310234-110310235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530248740	chr4:110310239-110310240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534014878	chr4:110310249-110310250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575756169	chr4:110310342-110310343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547646491	chr4:110310362-110310363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140679837	chr4:110310384-110310385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539618424	chr4:110310420-110310421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556502152	chr4:110310449-110310450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576218534	chr4:110310453-110310454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7654094	chr4:110310473-110310474	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs57380069	chr4:110310485-110310486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546367231	chr4:110310540-110310541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371565535	chr4:110310577-110310578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540706853	chr4:110310588-110310589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563803201	chr4:110310589-110310590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541975495	chr4:110310672-110310673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545944756	chr4:110310711-110310712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564485274	chr4:110310728-110310729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562885838	chr4:110310729-110310730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531909612	chr4:110310732-110310733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542236934	chr4:110310733-110310734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375916072	chr4:110310737-110310738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	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
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Schizophrenia	19546859	CNVD
Colorectal cancer	16272173	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110305600-110310600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:110306600-110316400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:110307800-110310200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:110307800-110310200	Weak transcription	Fetal Heart	heart
5	chr4:110308400-110310000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr4:110308600-110309600	Enhancers	H9 Cell Line	embryonic stem cell
7	chr4:110308800-110310400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr4:110308800-110310600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr4:110309000-110310000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:110309000-110310000	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:110309200-110310200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr4:110309400-110309600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr4:110309600-110310200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr4:110309600-110310600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr4:110309600-110310800	Enhancers	GM12878-XiMat	blood
16	chr4:110309600-110311000	Enhancers	Fetal Kidney	kidney
17	chr4:110309600-110311200	Enhancers	HSMM	muscle
18	chr4:110309800-110310000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:110309800-110311200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr4:110310000-110310200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr4:110310000-110310200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr4:110310000-110310200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:110310000-110310800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:110310000-110311000	Enhancers	HSMMtube	muscle
25	chr4:110310000-110311200	Enhancers	Ovary	ovary
26	chr4:110310000-110311400	Enhancers	Fetal Muscle Leg	muscle
27	chr4:110310200-110310600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr4:110310200-110310600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr4:110310200-110310600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr4:110310200-110310800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr4:110310200-110311000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:110310200-110311200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr4:110310200-110311800	Enhancers	Fetal Heart	heart
34	chr4:110310400-110310600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:110310400-110310800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr4:110310400-110311200	Enhancers	Fetal Lung	lung
37	chr4:110310600-110310800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr4:110310600-110310800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr4:110310600-110310800	Enhancers	Fetal Muscle Trunk	muscle
40	chr4:110310600-110310800	Enhancers	Psoas Muscle	Psoas
41	chr4:110310600-110311000	Enhancers	H9 Cell Line	embryonic stem cell
42	chr4:110310600-110311200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr4:110310600-110311200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr4:110310600-110311600	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr4:110310600-110316800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr4:110310800-110311600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:110310800-110311600	Flanking Active TSS	GM12878-XiMat	blood
48	chr4:110310800-110317000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr4:110310800-110318800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr4:110311000-110311400	Weak transcription	HSMMtube	muscle

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