Variant report

Variant	rs72908953
Chromosome Location	chr4:99915421-99915422
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr4:99915344-99915624	HepG2	liver:	n/a	n/a
2	MAFF	chr4:99915413-99915562	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:99859227..99861743-chr4:99914804..99916437,2	K562	blood:
2	chr4:99915265..99918330-chr4:100008518..100010769,3	K562	blood:
3	chr4:99914813..99916738-chr4:99980811..99982387,2	MCF-7	breast:
4	chr4:99913236..99916407-chr4:99949384..99951097,3	K562	blood:
5	chr4:99846410..99852563-chr4:99914756..99918771,11	MCF-7	breast:
6	chr4:99915328..99918402-chr4:100008331..100011431,5	MCF-7	breast:
7	chr4:99842136..99852937-chr4:99913200..99922220,39	K562	blood:
8	chr4:99914937..99918533-chr4:100007922..100010203,4	K562	blood:
9	chr4:99844460..99852883-chr4:99909835..99921707,41	K562	blood:

No data

Variant related genes	Relation type
MIR3684	TF binding region
METAP1	TF binding region
ENSG00000197894	Chromatin interaction
ENSG00000238449	Chromatin interaction
ENSG00000151247	Chromatin interaction
ENSG00000246090	Chromatin interaction
ENSG00000263923	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10489130	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1377690	0.82[AFR][1000 genomes]
rs17028382	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs17028421	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35933543	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57770074	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58521602	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs60513719	1.00[AMR][1000 genomes]
rs6532777	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6822811	1.00[AMR][1000 genomes]
rs6834982	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6844771	1.00[AMR][1000 genomes]
rs6856734	0.84[AFR][1000 genomes]
rs72908917	0.81[AFR][1000 genomes]
rs72908961	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72908966	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72908968	0.84[AMR][1000 genomes]
rs72908992	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72908996	0.85[AMR][1000 genomes]
rs7667503	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs7670154	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99914200-99916200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:99915000-99915600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:99915000-99915600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:99915000-99915600	Enhancers	Dnd41	blood
5	chr4:99915000-99915800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:99915000-99915800	Enhancers	HMEC	breast
7	chr4:99915200-99916000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr4:99915200-99916000	Weak transcription	Pancreas	Pancrea
9	chr4:99915200-99916200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:99915200-99916200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:99915400-99915600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:99915400-99915600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:99915400-99915600	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr4:99915400-99915600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:99915400-99915600	Enhancers	A549	lung
16	chr4:99915400-99915800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:99915400-99915800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:99915400-99915800	Enhancers	Liver	Liver
19	chr4:99915400-99915800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr4:99915400-99915800	Enhancers	K562	blood
21	chr4:99915400-99916000	Enhancers	Primary T cells from cord blood	blood
22	chr4:99915400-99916000	Enhancers	Primary T cells fromperipheralblood	blood
23	chr4:99915400-99916000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr4:99915400-99916000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr4:99915400-99916000	Enhancers	Fetal Thymus	thymus
26	chr4:99915400-99918600	Active TSS	HepG2	liver

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