Variant report

Variant	rs6896598
Chromosome Location	chr5:112311204-112311205
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr5:112310881-112313855	SK-N-SH	brain:	n/a	chr5:112312329-112312338 chr5:112312268-112312283
2	GATA1	chr5:112309379-112313322	K562	blood:	n/a	n/a
3	MXI1	chr5:112310730-112314410	SK-N-SH	brain:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:112291720..112294004-chr5:112309905..112311791,2	MCF-7	breast:
2	chr5:112225010..112227732-chr5:112311163..112313003,2	K562	blood:
3	chr5:112255209..112259355-chr5:112310614..112316433,9	K562	blood:
4	chr5:112253961..112259306-chr5:112310933..112315767,8	K562	blood:
5	chr5:112197171..112198752-chr5:112310924..112312714,2	MCF-7	breast:
6	chr5:112255914..112262078-chr5:112308752..112315375,16	MCF-7	breast:
7	chr5:112308899..112310478-chr5:112310482..112312099,2	MCF-7	breast:
8	chr5:112255338..112258184-chr5:112308831..112311561,3	MCF-7	breast:
9	chr5:112310720..112312332-chr5:112321502..112323309,2	MCF-7	breast:

No data

Variant related genes	Relation type
DCP2	TF binding region
ENSG00000272869	Chromatin interaction
ENSG00000129625	Chromatin interaction
ENSG00000172795	Chromatin interaction
ENSG00000212643	Chromatin interaction
ENSG00000153037	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10478101	0.81[CEU][hapmap]
rs2080898	0.81[CEU][hapmap]
rs2080899	0.84[CEU][hapmap]
rs57874459	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62366970	0.86[ASN][1000 genomes]
rs6594653	1.00[CHB][hapmap]
rs6879139	1.00[ASN][1000 genomes]
rs7708215	1.00[JPT][hapmap]
rs7726012	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1019756	chr5:112242315-112325943	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1028759	chr5:112300490-112358514	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6896598	DCP2	cis	Nerve Tibial	GTEx

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112294000-112311800	Weak transcription	Right Atrium	heart
2	chr5:112298200-112311800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:112300200-112311400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:112305600-112311600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:112305600-112311600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:112305600-112311600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:112305600-112311600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:112305600-112311800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:112305600-112312000	Weak transcription	Hela-S3	cervix
10	chr5:112305800-112311400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:112305800-112311600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:112305800-112311600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr5:112306000-112311400	Weak transcription	A549	lung
14	chr5:112306000-112311600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr5:112306000-112311600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr5:112306000-112311800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:112307200-112311400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:112307200-112311600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:112307200-112311600	Weak transcription	Fetal Kidney	kidney
20	chr5:112307400-112311400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:112307400-112311400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr5:112307800-112311400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:112307800-112311600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:112308600-112311800	Enhancers	Placenta	Placenta
25	chr5:112309200-112311800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:112309800-112311600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr5:112309800-112312000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr5:112310000-112311400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr5:112310000-112311600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:112310000-112311600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:112310000-112311600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:112310000-112312000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:112310200-112311600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:112310200-112311600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:112310200-112311600	Weak transcription	Fetal Thymus	thymus
36	chr5:112310400-112311400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:112310600-112311400	Enhancers	K562	blood
38	chr5:112310800-112311600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr5:112311000-112311400	Enhancers	Dnd41	blood
40	chr5:112311000-112311400	Enhancers	HepG2	liver
41	chr5:112311200-112311400	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr5:112311200-112311400	Enhancers	GM12878-XiMat	blood

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