Variant report

Variant	esv3364178
Chromosome Location	chr4:74383966-74400177
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:3)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:74388550..74389422-chr4:74519096..74519898,2	MCF-7	breast:
2	chr1:110662075..110662758-chr4:74391944..74392774,2	MCF-7	breast:
3	chr4:74388912..74389524-chr4:74999547..75000220,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AFM-1	chr4:74394130-74395572	NONHSAT096858
2	lnc-AFM-1	chr4:74394130-74395572	NONHSAT096860
3	lnc-AFM-1	chr4:74394130-74394250	XLOC_003572
4	lnc-AFM-1	chr4:74396768-74398790	XLOC_003572
5	lnc-AFM-1	chr4:74399609-74399845	XLOC_003572
6	lnc-AFM-1	chr4:74399609-74399812	XLOC_003572

No data

Variant related genes	Relation type
FOS	miRNA target sites

Extended variants
information (count: 607 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:607 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566357893	chr4:74383982-74383983	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533737985	chr4:74383999-74384000	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375168293	chr4:74384010-74384011	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145451692	chr4:74384022-74384023	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570519311	chr4:74384056-74384057	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538073907	chr4:74384108-74384109	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182576360	chr4:74384134-74384135	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187716306	chr4:74384137-74384138	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148857768	chr4:74384151-74384152	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192644374	chr4:74384168-74384169	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573159281	chr4:74384169-74384170	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540617623	chr4:74384190-74384191	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558823602	chr4:74384195-74384196	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184515281	chr4:74384201-74384202	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143483142	chr4:74384228-74384229	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562762307	chr4:74384248-74384249	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530195173	chr4:74384300-74384301	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373576642	chr4:74384335-74384336	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189177007	chr4:74384336-74384337	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191722873	chr4:74384349-74384350	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184744872	chr4:74384357-74384358	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561263556	chr4:74384364-74384365	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552137329	chr4:74384381-74384382	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7676460	chr4:74384497-74384498	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs531457750	chr4:74384518-74384519	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373115327	chr4:74384556-74384557	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527695593	chr4:74384584-74384585	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189583954	chr4:74384603-74384604	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141327238	chr4:74384636-74384637	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs180716267	chr4:74384641-74384642	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116268894	chr4:74384642-74384643	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186119254	chr4:74384687-74384688	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369225719	chr4:74384720-74384721	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373160992	chr4:74384734-74384735	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2178292	chr4:74384761-74384762	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs576796034	chr4:74384821-74384822	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371331896	chr4:74384920-74384921	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138965573	chr4:74384924-74384925	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544313341	chr4:74384940-74384941	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189317409	chr4:74384953-74384954	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574741479	chr4:74384957-74384958	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181977465	chr4:74384972-74384973	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72647083	chr4:74384981-74384982	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs527965882	chr4:74385007-74385008	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577973486	chr4:74385012-74385013	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571070094	chr4:74385029-74385030	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2141470	chr4:74385090-74385091	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs564126081	chr4:74385102-74385103	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531291879	chr4:74385109-74385110	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557016564	chr4:74385149-74385150	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74374600-74399000	Weak transcription	Fetal Intestine Large	intestine
2	chr4:74382000-74394200	Strong transcription	Liver	Liver
3	chr4:74383800-74384400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:74383800-74384600	ZNF genes & repeats	Fetal Intestine Small	intestine
5	chr4:74384000-74385600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:74384600-74384800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
7	chr4:74384600-74386200	Weak transcription	Fetal Intestine Small	intestine
8	chr4:74384800-74386200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:74385000-74385400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:74385600-74386800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:74386000-74387200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr4:74386200-74386400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:74386200-74386600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:74386200-74386800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr4:74386200-74387000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr4:74386200-74387000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:74386200-74387400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr4:74386200-74387400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr4:74386200-74387600	Enhancers	Dnd41	blood
20	chr4:74386200-74387600	Enhancers	Osteobl	bone
21	chr4:74386200-74387800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr4:74386200-74387800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:74386200-74390400	Strong transcription	Fetal Intestine Small	intestine
24	chr4:74386400-74387600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr4:74386400-74387800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr4:74386400-74387800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr4:74386400-74388200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:74386600-74386800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:74386600-74387000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:74386600-74387000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:74386600-74387000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr4:74386600-74387000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:74386600-74387600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr4:74386800-74387200	Enhancers	NH-A	brain
35	chr4:74386800-74387400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:74386800-74387600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:74387000-74387200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr4:74387000-74387200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:74387000-74387600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:74387000-74388000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:74387000-74390400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr4:74387200-74387400	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:74387400-74387600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:74387400-74387800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:74387600-74388000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:74388000-74388200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:74388000-74388600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:74388600-74392000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:74390400-74390600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr4:74390400-74399800	Weak transcription	Fetal Intestine Small	intestine

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