Variant report

Variant	esv1792624
Chromosome Location	chr4:74437054-74453857
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:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:74439365..74440079-chr4:74999743..75000601,2	MCF-7	breast:
2	chr4:74442868..74445735-chr4:74451381..74454006,2	K562	blood:
3	chr4:74439175..74439691-chr4:74519066..74519680,2	K562	blood:
4	chr4:74439128..74440023-chr4:74519184..74519993,6	MCF-7	breast:
5	chr4:74442868..74445735-chr4:74451381..74454006,2	K562	blood:
6	chr4:74448932..74451410-chr4:74453636..74455838,2	K562	blood:
7	chr4:74206810..74207765-chr4:74439071..74439792,3	K562	blood:
8	chr4:74448932..74451410-chr4:74453636..74455838,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AFM-3	chr4:74437925-74438192	l_2664_chr4:74426244-74438192_liver

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	RASSF6	hsa-miR-181a-5p	chr4:74441824-74441847

Extended variants
information (count: 725 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:725 , 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	rs11930946	chr4:74437054-74437055	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533244919	chr4:74437080-74437081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551606987	chr4:74437172-74437173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183768865	chr4:74437215-74437216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189323485	chr4:74437247-74437248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555600940	chr4:74437264-74437265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563463017	chr4:74437266-74437267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531272609	chr4:74437273-74437274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192628166	chr4:74437435-74437436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549429010	chr4:74437438-74437439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368173310	chr4:74437494-74437495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534324551	chr4:74437541-74437542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185110290	chr4:74437568-74437569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1247673	chr4:74437631-74437632	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs139227321	chr4:74437637-74437638	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190106925	chr4:74437638-74437639	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559652486	chr4:74437642-74437643	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557220185	chr4:74437649-74437650	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569054630	chr4:74437687-74437688	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375392041	chr4:74437707-74437708	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181813279	chr4:74437708-74437709	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567259573	chr4:74437762-74437763	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536421118	chr4:74437791-74437792	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186335843	chr4:74437807-74437808	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573054883	chr4:74437813-74437814	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144027354	chr4:74437837-74437838	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536298843	chr4:74437851-74437852	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs367564229	chr4:74437896-74437897	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552947276	chr4:74437934-74437935	Strong transcription Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs79484428	chr4:74437940-74437941	Strong transcription Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs545084607	chr4:74437942-74437943	Strong transcription Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs146611074	chr4:74437974-74437975	Strong transcription Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs10004505	chr4:74437998-74437999	Strong transcription Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs141328282	chr4:74438040-74438041	Strong transcription Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs561432206	chr4:74438099-74438100	Strong transcription Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs188830492	chr4:74438125-74438126	Strong transcription Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs35007989	chr4:74438153-74438154	Strong transcription Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs180869396	chr4:74438218-74438219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538981808	chr4:74438222-74438223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571237767	chr4:74438253-74438254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76240938	chr4:74438273-74438274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550709162	chr4:74438302-74438303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568889782	chr4:74438363-74438364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563893815	chr4:74438382-74438383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149852320	chr4:74438397-74438398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531348792	chr4:74438491-74438492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145891035	chr4:74438500-74438501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34164029	chr4:74438543-74438544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566702202	chr4:74438549-74438550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs55783483	chr4:74438578-74438579	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74434200-74437800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr4:74434400-74439600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:74437200-74437600	Weak transcription	Fetal Thymus	thymus
4	chr4:74437600-74438000	ZNF genes & repeats	Fetal Thymus	thymus
5	chr4:74437600-74440400	Enhancers	Dnd41	blood
6	chr4:74437800-74438000	ZNF genes & repeats	Thymus	Thymus
7	chr4:74437800-74438200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr4:74437800-74439400	Weak transcription	Fetal Intestine Small	intestine
9	chr4:74438000-74438800	Weak transcription	Fetal Thymus	thymus
10	chr4:74438000-74439600	Weak transcription	Thymus	Thymus
11	chr4:74438000-74464800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:74438200-74439000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:74438800-74439600	Enhancers	Fetal Thymus	thymus
14	chr4:74439000-74439400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:74439000-74439600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:74439000-74440200	Enhancers	Pancreas	Pancrea
17	chr4:74439000-74448400	Weak transcription	Fetal Intestine Large	intestine
18	chr4:74439400-74440200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr4:74439400-74440200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:74439400-74440200	Strong transcription	Fetal Intestine Small	intestine
21	chr4:74439400-74442200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr4:74439600-74439800	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr4:74439600-74440000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:74439600-74440200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:74439600-74440200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:74439600-74440200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:74439600-74440200	Enhancers	Gastric	stomach
28	chr4:74439600-74440200	Enhancers	Stomach Mucosa	stomach
29	chr4:74439600-74440200	Genic enhancers	Thymus	Thymus
30	chr4:74439600-74440200	Enhancers	HMEC	breast
31	chr4:74439600-74440200	Enhancers	NHEK	skin
32	chr4:74439600-74441200	Genic enhancers	Fetal Thymus	thymus
33	chr4:74439800-74440200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr4:74439800-74440200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:74439800-74440200	Enhancers	H9 Cell Line	embryonic stem cell
36	chr4:74439800-74440200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr4:74439800-74440200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr4:74439800-74440200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr4:74439800-74440200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr4:74439800-74440200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr4:74439800-74440200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:74439800-74440200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:74439800-74440200	Enhancers	Esophagus	oesophagus
44	chr4:74439800-74448600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr4:74440000-74440200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:74440200-74441000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr4:74440200-74441400	Weak transcription	HMEC	breast
48	chr4:74440200-74441800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr4:74440200-74442200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:74440200-74443000	Weak transcription	Stomach Mucosa	stomach

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