Variant report

Variant	nsv595399
Chromosome Location	chr4:129835649-129924852
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:381)
CpG islands
(count:0)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:381 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:129879403-129879765	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:129866424-129866624	K562	blood:	n/a	n/a
3	ATF2	chr4:129837905-129838481	GM12878	blood:	n/a	n/a
4	ATF2	chr4:129838782-129839408	GM12878	blood:	n/a	n/a
5	ATF2	chr4:129837715-129838462	GM12878	blood:	n/a	n/a
6	ATF2	chr4:129838788-129839413	GM12878	blood:	n/a	n/a
7	BACH1	chr4:129902627-129902712	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr4:129901252-129901452	K562	blood:	n/a	n/a
9	BATF	chr4:129838922-129839343	GM12878	blood:	n/a	n/a
10	BATF	chr4:129838911-129839317	GM12878	blood:	n/a	n/a
11	BATF	chr4:129837910-129838268	GM12878	blood:	n/a	n/a
12	BCL11A	chr4:129839033-129839295	GM12878	blood:	n/a	n/a
13	BCL11A	chr4:129838977-129839324	GM12878	blood:	n/a	n/a
14	BCL3	chr4:129838908-129839307	GM12878	blood:	n/a	n/a
15	BCLAF1	chr4:129837821-129838334	GM12878	blood:	n/a	n/a
16	BCLAF1	chr4:129837719-129838296	GM12878	blood:	n/a	n/a
17	BCLAF1	chr4:129838883-129839358	GM12878	blood:	n/a	n/a
18	BCLAF1	chr4:129838854-129839425	GM12878	blood:	n/a	n/a
19	BHLHE40	chr4:129838002-129838412	GM12878	blood:	n/a	n/a
20	BHLHE40	chr4:129838803-129839362	GM12878	blood:	n/a	n/a
21	BRCA1	chr4:129846236-129846257	GM12878	blood:	n/a	n/a
22	CBX3	chr4:129901088-129901449	HCT-116	colon:	n/a	n/a
23	CCNT2	chr4:129861639-129861803	K562	blood:	n/a	n/a
24	CEBPB	chr4:129862245-129862448	K562	blood:	n/a	n/a
25	CEBPB	chr4:129900239-129900408	IMR90	lung:	n/a	n/a
26	CEBPB	chr4:129905450-129905683	IMR90	lung:	n/a	chr4:129905546-129905557
27	CEBPB	chr4:129862131-129862536	K562	blood:	n/a	n/a
28	CEBPB	chr4:129924790-129925052	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr4:129900241-129900308	K562	blood:	n/a	n/a
30	CEBPB	chr4:129924808-129925027	K562	blood:	n/a	n/a
31	CEBPB	chr4:129879409-129879619	HepG2	liver:	n/a	chr4:129879570-129879581 chr4:129879569-129879582
32	CEBPB	chr4:129879390-129879707	HepG2	liver:	n/a	chr4:129879570-129879581 chr4:129879569-129879582
33	CEBPB	chr4:129905387-129905697	HepG2	liver:	n/a	chr4:129905546-129905557
34	CEBPB	chr4:129879417-129879725	MCF-7	breast:	n/a	chr4:129879570-129879581 chr4:129879569-129879582
35	CEBPB	chr4:129879382-129879762	HepG2	liver:	n/a	chr4:129879570-129879581 chr4:129879569-129879582
36	CEBPB	chr4:129918421-129918579	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr4:129862212-129862459	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPB	chr4:129879390-129879701	MCF-7	breast:	n/a	chr4:129879570-129879581 chr4:129879569-129879582
39	CEBPB	chr4:129905491-129905623	K562	blood:	n/a	chr4:129905546-129905557
40	CEBPB	chr4:129879348-129879753	HepG2	liver:	n/a	chr4:129879570-129879581 chr4:129879569-129879582
41	CEBPB	chr4:129862172-129862511	K562	blood:	n/a	n/a
42	CEBPB	chr4:129905481-129905590	A549	lung:	n/a	chr4:129905546-129905557
43	CHD1	chr4:129838929-129839328	GM12878	blood:	n/a	n/a
44	CHD2	chr4:129837889-129838443	GM12878	blood:	n/a	n/a
45	CHD2	chr4:129838947-129839273	GM12878	blood:	n/a	n/a
46	CREB1	chr4:129837818-129838551	GM12878	blood:	n/a	n/a
47	CREB1	chr4:129838862-129839344	GM12878	blood:	n/a	n/a
48	CREB1	chr4:129837864-129838463	GM12878	blood:	n/a	n/a
49	CTCF	chr4:129866355-129866634	GM12878	blood:	n/a	chr4:129866497-129866505
50	CTCF	chr4:129866380-129866530	BJ	skin:	n/a	chr4:129866497-129866505

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:129900386..129903021-chr4:129908411..129910284,2	MCF-7	breast:
2	chr4:129881359..129883041-chr4:129899761..129902463,2	K562	blood:
3	chr4:129883398..129885861-chr4:129887383..129889705,3	K562	blood:
4	chr4:129834245..129836614-chr4:129838172..129840499,2	K562	blood:
5	chr4:129896690..129899278-chr4:129899361..129901444,2	MCF-7	breast:
6	chr4:129893731..129895681-chr4:129897472..129899242,2	K562	blood:
7	chr4:129869703..129871375-chr4:129874757..129876510,2	K562	blood:
8	chr4:129893731..129895681-chr4:129897472..129899242,2	K562	blood:
9	chr4:129885302..129888048-chr4:129911143..129913987,2	K562	blood:
10	chr4:129834245..129836614-chr4:129838172..129840499,2	K562	blood:
11	chr4:129883398..129885861-chr4:129887383..129889506,2	K562	blood:
12	chr4:129883398..129885861-chr4:129887383..129889506,2	K562	blood:
13	chr4:129896690..129899278-chr4:129899361..129901444,2	MCF-7	breast:
14	chr4:129863629..129866387-chr4:129870052..129872955,2	K562	blood:
15	chr4:129918148..129920594-chr4:129924035..129926675,2	K562	blood:
16	chr4:129886935..129889219-chr4:130012773..130015050,2	K562	blood:
17	chr4:129863629..129866387-chr4:129870052..129872955,2	K562	blood:
18	chr4:129834048..129836614-chr4:129837936..129840499,3	K562	blood:
19	chr4:129919094..129920682-chr4:129924284..129926675,2	K562	blood:
20	chr4:129869703..129871375-chr4:129874757..129876510,2	K562	blood:
21	chr4:129919094..129920682-chr4:129924284..129926675,2	K562	blood:
22	chr4:129881359..129883041-chr4:129899761..129902463,2	K562	blood:
23	chr4:129830344..129833253-chr4:129837741..129840090,2	K562	blood:
24	chr4:129885302..129888048-chr4:129911143..129913987,2	K562	blood:
25	chr4:129834048..129836614-chr4:129837936..129840499,3	K562	blood:
26	chr4:129902026..129904676-chr4:129907660..129909341,2	K562	blood:
27	chr4:129900386..129903021-chr4:129908411..129910284,2	MCF-7	breast:
28	chr4:129883398..129885861-chr4:129887383..129889705,3	K562	blood:
29	chr4:129902026..129904676-chr4:129907660..129909341,2	K562	blood:

No data

Variant related genes	Relation type
SCLT1	TF binding region
ENSG00000151470	chromatin interactions
ENSG00000151466	chromatin interactions

Extended variants
information (count: 3092 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:3092 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17349255	chr4:129835649-129835650	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs318542	chr4:129835694-129835695	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs538952058	chr4:129835707-129835708	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs17013921	chr4:129835710-129835711	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs569443900	chr4:129835730-129835731	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs376067591	chr4:129835751-129835752	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs554833157	chr4:129835752-129835753	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs150255552	chr4:129835820-129835821	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs568788282	chr4:129835846-129835847	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs369222717	chr4:129835866-129835867	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs189695538	chr4:129835935-129835936	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs180676339	chr4:129836010-129836011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79395315	chr4:129836046-129836047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562834469	chr4:129836143-129836144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574623218	chr4:129836188-129836189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs318543	chr4:129836255-129836256	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs145857546	chr4:129836271-129836272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368524498	chr4:129836288-129836289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546645539	chr4:129836292-129836293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117330900	chr4:129836337-129836338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532582122	chr4:129836357-129836358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550685982	chr4:129836407-129836408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569553833	chr4:129836420-129836421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536507734	chr4:129836451-129836452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs318544	chr4:129836458-129836459	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs73850031	chr4:129836480-129836481	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs534388279	chr4:129836511-129836512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558724497	chr4:129836569-129836570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559076269	chr4:129836612-129836613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530181194	chr4:129836724-129836725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576997005	chr4:129836758-129836759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200842215	chr4:129836775-129836776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112074872	chr4:129836784-129836785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs318545	chr4:129836799-129836800	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs149013945	chr4:129836826-129836827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536085294	chr4:129836830-129836831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs200951533	chr4:129836869-129836870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs56950655	chr4:129837026-129837027	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs6846045	chr4:129837056-129837057	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs318546	chr4:129837161-129837162	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs147119532	chr4:129837318-129837319	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs565075516	chr4:129837326-129837327	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs532468797	chr4:129837392-129837393	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs137869241	chr4:129837411-129837412	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs562696896	chr4:129837412-129837413	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs530423481	chr4:129837468-129837469	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs11735343	chr4:129837470-129837471	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs34659847	chr4:129837475-129837476	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs369036049	chr4:129837482-129837483	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs567161285	chr4:129837525-129837526	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:993 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129793800-129907200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:129794400-129860200	Weak transcription	Thymus	Thymus
3	chr4:129810400-129847200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:129810400-129847400	Weak transcription	Fetal Intestine Large	intestine
5	chr4:129810600-129847200	Weak transcription	Dnd41	blood
6	chr4:129810800-129838600	Weak transcription	Primary T cells from cord blood	blood
7	chr4:129821400-129867800	Weak transcription	Fetal Intestine Small	intestine
8	chr4:129828600-129837400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:129829200-129849600	Weak transcription	Pancreas	Pancrea
10	chr4:129829800-129873000	Weak transcription	Brain Substantia Nigra	brain
11	chr4:129830200-129836400	Weak transcription	Small Intestine	intestine
12	chr4:129833000-129840000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr4:129833800-129836400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr4:129833800-129848400	Weak transcription	Fetal Stomach	stomach
15	chr4:129834400-129862800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr4:129834800-129835800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr4:129834800-129837000	Weak transcription	Primary B cells from cord blood	blood
18	chr4:129834800-129837400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:129834800-129907400	Weak transcription	Aorta	Aorta
20	chr4:129835000-129847400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:129835200-129837600	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr4:129835200-129837600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr4:129835200-129837600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:129835600-129836000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr4:129835800-129836200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:129836000-129837200	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr4:129836200-129836400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:129836400-129836800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr4:129836400-129837800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr4:129836600-129846000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:129836800-129837800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr4:129837000-129837600	Active TSS	Primary B cells from cord blood	blood
33	chr4:129837000-129848600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:129837200-129839600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr4:129837200-129859600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:129837400-129837600	Enhancers	GM12878-XiMat	blood
37	chr4:129837400-129839400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr4:129837600-129837800	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr4:129837600-129838400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:129837600-129838600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr4:129837600-129839200	Flanking Active TSS	GM12878-XiMat	blood
42	chr4:129837600-129839800	Enhancers	Primary B cells from peripheral blood	blood
43	chr4:129837600-129839800	Enhancers	Primary hematopoietic stem cells	blood
44	chr4:129837600-129850600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr4:129837600-129888200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr4:129837800-129838000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr4:129837800-129838200	Active TSS	Primary B cells from cord blood	blood
48	chr4:129837800-129839400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr4:129838000-129838200	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr4:129838000-129839400	Enhancers	Primary T cells fromperipheralblood	blood

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