Variant report

Variant	nsv518368
Chromosome Location	chr4:57132047-57140241
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr4:57137398-57137660	MCF10A-Er-Src	breast:	n/a	n/a
2	EP300	chr4:57134265-57134273	K562	blood:	n/a	n/a
3	FOS	chr4:57137440-57137524	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr4:57137436-57137635	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr4:57137403-57137567	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr4:57137324-57137645	MCF10A-Er-Src	breast:	n/a	n/a
7	GATA3	chr4:57132836-57133077	SH-SY5Y	brain:	n/a	n/a
8	GATA3	chr4:57137357-57137786	SK-N-SH	brain:	n/a	n/a
9	JUN	chr4:57134488-57134550	HepG2	liver:	n/a	chr4:57134517-57134530 chr4:57134521-57134530
10	JUND	chr4:57134373-57134608	HepG2	liver:	n/a	chr4:57134521-57134530
11	MAZ	chr4:57140154-57140288	HepG2	liver:	n/a	n/a
12	NFIC	chr4:57137255-57137656	SK-N-SH	brain:	n/a	chr4:57137489-57137506 chr4:57137489-57137505
13	POLR2A	chr4:57139617-57140075	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr4:57133261-57133506	HepG2	liver:	n/a	n/a
15	STAT3	chr4:57137439-57137639	MCF10A-Er-Src	breast:	n/a	chr4:57137602-57137609
16	STAT3	chr4:57137476-57137562	MCF10A-Er-Src	breast:	n/a	n/a
17	ZNF384	chr4:57135649-57135811	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:57132745..57135392-chr4:57140286..57142322,2	MCF-7	breast:
2	chr4:57130565..57132897-chr4:57276076..57278023,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAICS-5	chr4:57136428-57136558	l_2649_chr4:57120311-57136558_testes

Variant related genes	Relation type
KIAA1211	TF binding region
ENSG00000268171	chromatin interactions

Extended variants
information (count: 318 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11732236	chr4:57132047-57132048	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73817457	chr4:57132102-57132103	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs557125449	chr4:57132123-57132124	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs188909776	chr4:57132201-57132202	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs58121402	chr4:57132236-57132237	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs375958318	chr4:57132246-57132247	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs544253251	chr4:57132314-57132315	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs78636636	chr4:57132331-57132332	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs34799079	chr4:57132362-57132363	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs140226272	chr4:57132366-57132367	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs181650567	chr4:57132386-57132387	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs370280854	chr4:57132423-57132424	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs11736988	chr4:57132432-57132433	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs374083378	chr4:57132559-57132560	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs578252755	chr4:57132569-57132570	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs145274562	chr4:57132580-57132581	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs563928731	chr4:57132600-57132601	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs184054643	chr4:57132641-57132642	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs11737075	chr4:57132688-57132689	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs559061995	chr4:57132726-57132727	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs17086603	chr4:57132788-57132789	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs550963693	chr4:57132791-57132792	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs145851428	chr4:57132804-57132805	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs35112223	chr4:57132850-57132851	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs530847629	chr4:57132875-57132876	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs550631234	chr4:57132884-57132885	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs552236506	chr4:57132885-57132886	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs149011344	chr4:57132928-57132929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143742570	chr4:57132941-57132942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113460788	chr4:57133084-57133085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs367933957	chr4:57133164-57133165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551024049	chr4:57133207-57133208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181542816	chr4:57133214-57133215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113193363	chr4:57133290-57133291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs33922674	chr4:57133291-57133292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148141441	chr4:57133309-57133310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185924885	chr4:57133317-57133318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370739010	chr4:57133325-57133326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76886577	chr4:57133329-57133330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146537052	chr4:57133356-57133357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574263988	chr4:57133379-57133380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542860054	chr4:57133452-57133453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559471787	chr4:57133457-57133458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572611692	chr4:57133478-57133479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544667502	chr4:57133479-57133480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564557575	chr4:57133488-57133489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191223382	chr4:57133489-57133490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550544151	chr4:57133523-57133524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561076911	chr4:57133530-57133531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529955090	chr4:57133550-57133551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	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
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	22183965	CNVD
Breast cancer	21785460	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57098800-57158400	Weak transcription	Fetal Brain Female	brain
2	chr4:57107400-57148400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:57120800-57135800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:57124800-57132800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:57124800-57149200	Weak transcription	Fetal Brain Male	brain
6	chr4:57126800-57133800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:57127800-57134000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:57130600-57138200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:57130800-57137400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:57130800-57138400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:57131400-57132400	Weak transcription	Fetal Intestine Small	intestine
12	chr4:57131800-57134200	Enhancers	Brain Germinal Matrix	brain
13	chr4:57132400-57135000	Enhancers	Fetal Intestine Large	intestine
14	chr4:57132400-57135600	Enhancers	Fetal Intestine Small	intestine
15	chr4:57132800-57133000	Enhancers	Duodenum Mucosa	Duodenum
16	chr4:57133000-57133600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr4:57133600-57134000	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr4:57133600-57134400	Active TSS	Duodenum Mucosa	Duodenum
19	chr4:57133800-57134000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:57133800-57162800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:57134000-57134200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr4:57134000-57134400	Enhancers	Stomach Mucosa	stomach
23	chr4:57134000-57140000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr4:57134200-57137400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr4:57134200-57140200	Weak transcription	Brain Germinal Matrix	brain
26	chr4:57134400-57138200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr4:57134400-57138200	Weak transcription	Stomach Mucosa	stomach
28	chr4:57135000-57137200	Weak transcription	Fetal Intestine Large	intestine
29	chr4:57135400-57139800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr4:57135600-57137000	Weak transcription	Fetal Intestine Small	intestine
31	chr4:57135800-57136600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:57136000-57136400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:57136400-57145200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:57136400-57148400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:57136600-57138200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:57137000-57138200	Enhancers	Fetal Intestine Small	intestine
37	chr4:57137200-57138200	Enhancers	Fetal Intestine Large	intestine
38	chr4:57137400-57138200	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr4:57137400-57142000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:57137400-57142800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr4:57137600-57148400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:57137800-57142800	Weak transcription	Fetal Kidney	kidney
43	chr4:57138000-57139800	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr4:57138000-57140200	Active TSS	Colonic Mucosa	Colon
45	chr4:57138200-57138400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:57138200-57138400	Flanking Active TSS	Fetal Intestine Large	intestine
47	chr4:57138200-57139000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:57138200-57139000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr4:57138200-57140000	Enhancers	Stomach Mucosa	stomach
50	chr4:57138200-57140400	Active TSS	Duodenum Mucosa	Duodenum

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