Variant report

Variant	nsv980462
Chromosome Location	chr4:100819647-100825036
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr4:100821000-100821266	SH-SY5Y	brain:	n/a	n/a
2	GATA3	chr4:100820900-100821373	SH-SY5Y	brain:	n/a	n/a
3	MAFF	chr4:100822790-100822900	HepG2	liver:	n/a	n/a
4	MAFK	chr4:100824638-100824807	K562	blood:	n/a	n/a
5	MAFK	chr4:100822702-100822982	HepG2	liver:	n/a	n/a
6	NFYB	chr4:100820061-100820261	GM12878	blood:	n/a	n/a
7	POLR2A	chr4:100819543-100819721	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr4:100820705-100821171	K562	blood:	n/a	n/a
9	POLR2A	chr4:100821953-100822622	K562	blood:	n/a	n/a
10	STAT3	chr4:100822691-100822776	MCF10A-Er-Src	breast:	n/a	n/a
11	STAT3	chr4:100819615-100819671	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:100824272..100826576-chr4:100827614..100829425,2	K562	blood:
2	chr4:100799869..100822436-chr4:100866015..100873106,54	K562	blood:
3	chr4:100822597..100824617-chr4:100866275..100869392,5	K562	blood:
4	chr4:100815631..100818960-chr4:100821744..100826195,4	K562	blood:
5	chr4:100824278..100827001-chr4:100871760..100873443,2	K562	blood:
6	chr4:100820568..100823308-chr4:100824900..100827243,2	K562	blood:
7	chr4:100819394..100821526-chr4:100823145..100825504,2	K562	blood:
8	chr4:100820568..100823308-chr4:100824900..100827243,2	K562	blood:
9	chr4:100815313..100817672-chr4:100818504..100822549,4	MCF-7	breast:
10	chr4:100819394..100821526-chr4:100823145..100825504,2	K562	blood:
11	chr4:100810623..100827791-chr4:100865444..100874425,55	K562	blood:
12	chr4:100814584..100817913-chr4:100818324..100821681,5	K562	blood:
13	chr4:100815138..100817913-chr4:100819745..100821681,2	K562	blood:
14	chr4:100819072..100821321-chr4:100870712..100873019,2	MCF-7	breast:

No data

Variant related genes	Relation type
LAMTOR3	TF binding region
ENSG00000245322	chromatin interactions
ENSG00000164032	chromatin interactions
ENSG00000109270	chromatin interactions
ENSG00000164031	chromatin interactions

Extended variants
information (count: 144 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556335186	chr4:100819674-100819675	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs558683411	chr4:100819687-100819688	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs576956821	chr4:100819738-100819739	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs181937904	chr4:100819882-100819883	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs547222940	chr4:100819894-100819895	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs575235565	chr4:100819902-100819903	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs575462907	chr4:100819945-100819946	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs142846359	chr4:100819989-100819990	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs546308753	chr4:100820021-100820022	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs565514630	chr4:100820191-100820192	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs560763352	chr4:100820193-100820194	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs527874715	chr4:100820206-100820207	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs552677250	chr4:100820335-100820336	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs566194009	chr4:100820363-100820364	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs564250060	chr4:100820424-100820425	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs531647022	chr4:100820514-100820515	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs371094436	chr4:100820521-100820522	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs567301156	chr4:100820553-100820554	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs549784226	chr4:100820623-100820624	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs369648413	chr4:100820685-100820686	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs568079844	chr4:100820724-100820725	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs187271198	chr4:100820734-100820735	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs541171251	chr4:100820771-100820772	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs56171257	chr4:100820804-100820805	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs1044044	chr4:100820850-100820851	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs112144391	chr4:100820882-100820883	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs566707034	chr4:100820926-100820927	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs534399339	chr4:100820959-100820960	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs533741038	chr4:100821039-100821040	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs140678806	chr4:100821089-100821090	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs569607702	chr4:100821095-100821096	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs190852455	chr4:100821178-100821179	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs182992083	chr4:100821243-100821244	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs556227099	chr4:100821276-100821277	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs537049917	chr4:100821291-100821292	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs376663041	chr4:100821313-100821314	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs542553740	chr4:100821330-100821331	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs560611406	chr4:100821346-100821347	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs572658252	chr4:100821355-100821356	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs545990192	chr4:100821389-100821390	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs564311363	chr4:100821417-100821418	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs531706678	chr4:100821418-100821419	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs558236840	chr4:100821425-100821426	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs55943142	chr4:100821454-100821455	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs187530923	chr4:100821466-100821467	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs115432576	chr4:100821487-100821488	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs529269218	chr4:100821535-100821536	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs548505343	chr4:100821661-100821662	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs566665778	chr4:100821673-100821674	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs28714567	chr4:100821675-100821676	Weak transcription Strong transcription	Chromatin interactive region	4 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:228 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100815600-100840000	Weak transcription	Small Intestine	intestine
2	chr4:100816000-100823200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:100816000-100829600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:100816000-100839800	Weak transcription	Esophagus	oesophagus
5	chr4:100816000-100867000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:100816000-100867000	Weak transcription	Lung	lung
7	chr4:100816200-100819800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr4:100816200-100820000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr4:100816200-100820000	Weak transcription	HUVEC	blood vessel
10	chr4:100816200-100820600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr4:100816200-100821200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr4:100816200-100821600	Weak transcription	NHDF-Ad	bronchial
13	chr4:100816200-100822000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:100816200-100822000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr4:100816200-100822000	Weak transcription	Liver	Liver
16	chr4:100816200-100822000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr4:100816200-100822000	Weak transcription	NH-A	brain
18	chr4:100816200-100822000	Weak transcription	Osteobl	bone
19	chr4:100816200-100822400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr4:100816200-100822800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr4:100816200-100822800	Weak transcription	Fetal Kidney	kidney
22	chr4:100816200-100823000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:100816200-100823000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr4:100816200-100823000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr4:100816200-100823200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:100816200-100823200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr4:100816200-100823200	Weak transcription	Ovary	ovary
28	chr4:100816200-100823400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr4:100816200-100823400	Weak transcription	Brain Anterior Caudate	brain
30	chr4:100816200-100823400	Weak transcription	HSMMtube	muscle
31	chr4:100816200-100823600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:100816200-100823800	Weak transcription	Brain Angular Gyrus	brain
33	chr4:100816200-100827000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr4:100816200-100827200	Weak transcription	Brain Hippocampus Middle	brain
35	chr4:100816200-100827400	Weak transcription	K562	blood
36	chr4:100816200-100837600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr4:100816200-100838000	Weak transcription	Fetal Stomach	stomach
38	chr4:100816200-100838800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr4:100816200-100839800	Weak transcription	Aorta	Aorta
40	chr4:100816200-100840200	Weak transcription	Colonic Mucosa	Colon
41	chr4:100816200-100842200	Weak transcription	Pancreas	Pancrea
42	chr4:100816200-100851400	Weak transcription	A549	lung
43	chr4:100816200-100851600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:100816200-100853600	Weak transcription	NHLF	lung
45	chr4:100816200-100866200	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr4:100816400-100820800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr4:100816400-100821000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:100816400-100821000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:100816400-100821600	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr4:100816400-100821600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links