Variant report

Variant	nsv520074
Chromosome Location	chr4:100782043-100784980
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	ARID3A	chr4:100784938-100785288	K562	blood:	n/a	n/a
2	ATF2	chr4:100782586-100782978	GM12878	blood:	n/a	n/a
3	BCL11A	chr4:100782654-100782922	GM12878	blood:	n/a	n/a
4	BCL3	chr4:100782515-100783046	GM12878	blood:	n/a	n/a
5	CUX1	chr4:100784183-100784319	K562	blood:	n/a	n/a
6	CUX1	chr4:100783573-100783692	GM12878	blood:	n/a	n/a
7	CUX1	chr4:100784965-100784988	GM12878	blood:	n/a	n/a
8	EBF1	chr4:100782626-100782972	GM12878	blood:	n/a	n/a
9	FOS	chr4:100782785-100782985	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr4:100782795-100783039	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr4:100782765-100782925	MCF10A-Er-Src	breast:	n/a	n/a
12	FOXM1	chr4:100782532-100782968	GM12878	blood:	n/a	n/a
13	GATA3	chr4:100784903-100785456	MCF-7	breast:	n/a	n/a
14	IKZF1	chr4:100782566-100782889	GM12878	blood:	n/a	n/a
15	KAP1	chr4:100784860-100785421	HEK293	kidney:	n/a	n/a
16	NFIC	chr4:100782492-100783104	GM12878	blood:	n/a	n/a
17	RUNX3	chr4:100782594-100782961	GM12878	blood:	n/a	n/a
18	RUNX3	chr4:100782536-100783019	GM12878	blood:	n/a	n/a
19	SPI1	chr4:100782561-100783053	HL-60	blood:	n/a	n/a
20	STAT3	chr4:100782770-100783018	MCF10A-Er-Src	breast:	n/a	chr4:100782863-100782874
21	STAT3	chr4:100782109-100782285	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr4:100782716-100783144	MCF10A-Er-Src	breast:	n/a	chr4:100782863-100782874
23	STAT3	chr4:100782770-100783010	MCF10A-Er-Src	breast:	n/a	chr4:100782863-100782874
24	USF2	chr4:100783316-100783457	GM12878	blood:	n/a	n/a
25	ZNF384	chr4:100784807-100785241	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:100784573..100786604-chr4:100870218..100872169,2	K562	blood:
2	chr4:100777569..100779939-chr4:100780512..100782819,2	K562	blood:
3	chr4:100780796..100784092-chr4:100868274..100872206,3	K562	blood:
4	chr4:100774002..100776880-chr4:100781292..100784858,3	MCF-7	breast:
5	chr4:100784573..100786137-chr4:100870218..100872755,2	K562	blood:

Variant related genes	Relation type
DAPP1	TF binding region
ENSG00000245322	chromatin interactions
ENSG00000164032	chromatin interactions

Extended variants
information (count: 103 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546863019	chr4:100782043-100782044	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs573896885	chr4:100782044-100782045	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs114830254	chr4:100782055-100782056	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs547678747	chr4:100782092-100782093	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs577666105	chr4:100782097-100782098	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs62305044	chr4:100782162-100782163	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs112199398	chr4:100782177-100782178	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs186686542	chr4:100782221-100782222	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs147124003	chr4:100782304-100782305	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs138473595	chr4:100782333-100782334	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs7687941	chr4:100782338-100782339	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs561209349	chr4:100782347-100782348	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs368790906	chr4:100782465-100782466	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs528712907	chr4:100782468-100782469	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs530261942	chr4:100782495-100782496	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs12640570	chr4:100782602-100782603	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs143994523	chr4:100782675-100782676	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs2282587	chr4:100782681-100782682	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs570096320	chr4:100782687-100782688	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs551049907	chr4:100782690-100782691	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs368943931	chr4:100782739-100782740	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs569296935	chr4:100782793-100782794	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs530082678	chr4:100782830-100782831	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs373427032	chr4:100782831-100782832	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs200856762	chr4:100782843-100782844	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs190742620	chr4:100782907-100782908	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs567532543	chr4:100782923-100782924	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs144264616	chr4:100783023-100783024	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs182088819	chr4:100783059-100783060	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs185222763	chr4:100783064-100783065	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs189550754	chr4:100783088-100783089	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs556610084	chr4:100783089-100783090	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs533336368	chr4:100783090-100783091	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs537457780	chr4:100783157-100783158	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs117987164	chr4:100783164-100783165	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs542197998	chr4:100783204-100783205	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs182527502	chr4:100783283-100783284	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs148328685	chr4:100783308-100783309	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs573479240	chr4:100783324-100783325	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs540508846	chr4:100783329-100783330	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs565480063	chr4:100783332-100783333	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs532570878	chr4:100783342-100783343	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs2851036	chr4:100783368-100783369	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs34727536	chr4:100783377-100783378	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs562955518	chr4:100783425-100783426	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs370782883	chr4:100783433-100783434	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs530147362	chr4:100783523-100783524	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs114451756	chr4:100783533-100783534	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs567492011	chr4:100783554-100783555	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs538884864	chr4:100783559-100783560	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Autism	18414403	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
Hirschsprung''s Disease	21712996	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
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100761000-100801200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:100768400-100799000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr4:100777000-100782600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:100777600-100787400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr4:100777600-100800800	Weak transcription	Thymus	Thymus
6	chr4:100777800-100799200	Weak transcription	Fetal Thymus	thymus
7	chr4:100777800-100801000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr4:100778000-100782200	Weak transcription	HMEC	breast
9	chr4:100778000-100782400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr4:100778000-100782800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr4:100778000-100786000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr4:100778000-100792000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:100778000-100798600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr4:100778000-100800200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr4:100778200-100782600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr4:100778200-100798200	Weak transcription	Placenta	Placenta
17	chr4:100778400-100789600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr4:100778400-100800600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr4:100778600-100786000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr4:100779400-100782400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:100779400-100784400	Weak transcription	Fetal Lung	lung
22	chr4:100780000-100788200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:100780200-100783000	Genic enhancers	Primary monocytes fromperipheralblood	blood
24	chr4:100780200-100783600	Strong transcription	NHEK	skin
25	chr4:100780400-100782800	Genic enhancers	GM12878-XiMat	blood
26	chr4:100780400-100783000	Genic enhancers	Monocytes-CD14+_RO01746	blood
27	chr4:100780400-100783600	Strong transcription	Primary T cells from cord blood	blood
28	chr4:100780800-100782600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr4:100781000-100782400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:100781200-100782400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr4:100781200-100782400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:100781200-100782600	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr4:100781200-100783200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr4:100781200-100784800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr4:100781200-100789600	Weak transcription	Gastric	stomach
36	chr4:100781200-100791800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:100781200-100800800	Weak transcription	Esophagus	oesophagus
38	chr4:100781200-100800800	Weak transcription	Spleen	Spleen
39	chr4:100781200-100801000	Weak transcription	Pancreas	Pancrea
40	chr4:100781400-100782400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr4:100781400-100782600	Strong transcription	Primary B cells from peripheral blood	blood
42	chr4:100781400-100795800	Strong transcription	Primary B cells from cord blood	blood
43	chr4:100782000-100783600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
44	chr4:100782200-100783200	Enhancers	HMEC	breast
45	chr4:100782400-100782600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr4:100782400-100783200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:100782400-100783200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr4:100782400-100783200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:100782400-100783200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:100782400-100783400	Genic enhancers	Primary hematopoietic stem cells	blood

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