Variant report

Variant	rs5030529
Chromosome Location	chr4:110622794-110622795
allele	C/G
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:10)
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	CEBPD	chr4:110622649-110623155	K562	blood:	n/a	n/a
2	POLR2A	chr4:110622699-110625610	H1-hESC	embryonic stem cell:	n/a	n/a
3	EP300	chr4:110622782-110623040	K562	blood:	n/a	n/a
4	TEAD4	chr4:110622672-110623494	K562	blood:	n/a	n/a
5	TEAD4	chr4:110622696-110623088	K562	blood:	n/a	n/a
6	CCNT2	chr4:110622731-110623338	K562	blood:	n/a	chr4:110622919-110622939
7	ZNF384	chr4:110622608-110623035	K562	blood:	n/a	n/a
8	TAL1	chr4:110622732-110623100	K562	blood:	n/a	chr4:110622921-110622939
9	GATA1	chr4:110622643-110623320	PBDE	blood:	n/a	chr4:110622921-110622928 chr4:110622922-110622939
10	RCOR1	chr4:110622758-110623450	K562	blood:	n/a	n/a
11	GATA2	chr4:110622684-110623059	K562	blood:	n/a	chr4:110622921-110622928 chr4:110622922-110622939

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:110622125..110626663-chr4:110647059..110653148,13	MCF-7	breast:
2	chr4:110620445..110623344-chr4:110627846..110630459,3	K562	blood:
3	chr4:110621753..110625851-chr4:110723328..110725382,3	MCF-7	breast:
4	chr4:110614175..110617352-chr4:110621711..110624911,3	K562	blood:
5	chr4:110621463..110624410-chr4:110832783..110835223,2	K562	blood:
6	chr4:110618563..110622220-chr4:110622548..110625878,6	K562	blood:
7	chr4:110622297..110625771-chr4:110735143..110738902,5	K562	blood:
8	chr4:110621787..110624443-chr4:110734368..110736643,3	K562	blood:
9	chr4:110611889..110614128-chr4:110622707..110624451,2	MCF-7	breast:
10	chr4:110622109..110625008-chr4:110733953..110738254,7	MCF-7	breast:

No data

Variant related genes	Relation type
CASP6	TF binding region
ENSG00000138794	Chromatin interaction
ENSG00000109534	Chromatin interaction
ENSG00000205403	Chromatin interaction
ENSG00000123739	Chromatin interaction
ENSG00000138798	Chromatin interaction
ENSG00000272795	Chromatin interaction
ENSG00000273447	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs57999748	0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv595142	chr4:110609481-110656730	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110572600-110623200	Weak transcription	Esophagus	oesophagus
2	chr4:110589600-110623200	Weak transcription	Brain Substantia Nigra	brain
3	chr4:110598800-110622800	Weak transcription	NHEK	skin
4	chr4:110601800-110622800	Weak transcription	Right Atrium	heart
5	chr4:110605000-110622800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr4:110605600-110622800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:110605800-110622800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:110606400-110622800	Weak transcription	Hela-S3	cervix
9	chr4:110607200-110622800	Weak transcription	Fetal Brain Male	brain
10	chr4:110607800-110623200	Weak transcription	Brain Angular Gyrus	brain
11	chr4:110609000-110622800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:110609600-110623000	Weak transcription	A549	lung
13	chr4:110609800-110623200	Weak transcription	Psoas Muscle	Psoas
14	chr4:110611000-110623200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr4:110611200-110623800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr4:110611600-110623200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:110612200-110622800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr4:110612200-110623000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:110612400-110622800	Weak transcription	Brain Hippocampus Middle	brain
20	chr4:110613000-110623200	Weak transcription	Brain Anterior Caudate	brain
21	chr4:110613600-110622800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr4:110613800-110622800	Weak transcription	NHDF-Ad	bronchial
23	chr4:110614200-110622800	Weak transcription	Right Ventricle	heart
24	chr4:110614200-110622800	Weak transcription	HMEC	breast
25	chr4:110614200-110623000	Weak transcription	NHLF	lung
26	chr4:110614200-110623200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr4:110614400-110622800	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr4:110614400-110622800	Weak transcription	Primary B cells from cord blood	blood
29	chr4:110614400-110622800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr4:110614400-110622800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:110614400-110622800	Weak transcription	Ovary	ovary
32	chr4:110614400-110622800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr4:110614400-110623000	Weak transcription	NH-A	brain
34	chr4:110614600-110622800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr4:110615400-110622800	Weak transcription	Placenta	Placenta
36	chr4:110615400-110623200	Weak transcription	Aorta	Aorta
37	chr4:110615600-110623000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr4:110615800-110622800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr4:110615800-110623000	Weak transcription	Fetal Kidney	kidney
40	chr4:110615800-110623200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr4:110616000-110622800	Weak transcription	HSMMtube	muscle
42	chr4:110616000-110623000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:110616000-110623200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr4:110617200-110623000	Weak transcription	Osteobl	bone
45	chr4:110617400-110622800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:110617400-110623200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr4:110619000-110622800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:110619000-110623000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr4:110619000-110623200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr4:110619200-110622800	Weak transcription	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links