Variant report

Variant	rs2701679
Chromosome Location	chr7:107283908-107283909
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr7:107283795-107284316	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr7:107283880-107284030	MCF-7	breast:	n/a	n/a
3	JUND	chr7:107283849-107284124	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr7:107283887-107284330	IMR90	lung:	n/a	n/a
5	CTCF	chr7:107283867-107284240	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr7:107283889-107284242	IMR90	lung:	n/a	n/a
7	FOS	chr7:107283868-107284149	MCF10A-Er-Src	breast:	n/a	n/a
8	CTCF	chr7:107283860-107284010	HCM	heart:	n/a	n/a
9	RAD21	chr7:107283869-107284223	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:107278392..107281833-chr7:107283832..107286049,5	K562	blood:
2	chr7:107280056..107281833-chr7:107283514..107285506,2	K562	blood:

Variant related genes	Relation type
BANF1P5	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1024401	0.83[JPT][hapmap]
rs10264412	0.84[EUR][1000 genomes]
rs11535285	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs11761775	0.82[JPT][hapmap]
rs11771278	0.96[ASN][1000 genomes]
rs12534598	0.82[JPT][hapmap]
rs12668615	0.83[JPT][hapmap]
rs13228252	0.91[ASN][1000 genomes]
rs1468335	0.81[JPT][hapmap]
rs17154091	0.90[CEU][hapmap]
rs2204833	0.98[EUR][1000 genomes]
rs2222845	0.97[EUR][1000 genomes]
rs2237671	0.81[EUR][1000 genomes]
rs2237678	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs2248465	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs2253833	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs2293658	1.00[CEU][hapmap]
rs2520250	0.82[EUR][1000 genomes]
rs2520256	0.82[EUR][1000 genomes]
rs2701678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2701682	0.91[EUR][1000 genomes]
rs2701684	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs2701685	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2701687	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2712195	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs2712196	0.81[EUR][1000 genomes]
rs2712224	0.84[EUR][1000 genomes]
rs2712227	0.87[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs2712228	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs2712229	0.97[ASN][1000 genomes]
rs2807	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs3779495	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs4730244	0.84[JPT][hapmap]
rs58052742	0.86[EUR][1000 genomes]
rs62483725	0.85[EUR][1000 genomes]
rs711442	0.82[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1028571	chr7:107114479-107299723	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv539053	chr7:107114479-107299723	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2701679	BCAP29	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107270200-107284600	Weak transcription	Adipose Nuclei	Adipose
2	chr7:107280200-107284200	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr7:107280200-107284400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr7:107280200-107284800	Weak transcription	Primary B cells from cord blood	blood
5	chr7:107280600-107284400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr7:107281600-107285200	Enhancers	Fetal Brain Male	brain
7	chr7:107282000-107286600	Enhancers	Fetal Brain Female	brain
8	chr7:107283000-107285200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:107283000-107285200	Enhancers	NHDF-Ad	bronchial
10	chr7:107283200-107284600	Enhancers	NHLF	lung
11	chr7:107283200-107285200	Enhancers	Osteobl	bone
12	chr7:107283200-107286000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:107283400-107284000	Enhancers	NH-A	brain
14	chr7:107283600-107284600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:107283800-107284000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:107283800-107284200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links