Variant report

Variant	rs4727011
Chromosome Location	chr7:140369114-140369115
allele	C/T
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	ESR1	chr7:140368735-140369149	T-47D	breast:	n/a	n/a
2	MAFF	chr7:140369089-140369125	K562	blood:	n/a	n/a
3	MAFF	chr7:140369085-140369283	HepG2	liver:	n/a	n/a
4	MAFK	chr7:140369069-140369275	HepG2	liver:	n/a	n/a
5	MAFK	chr7:140369051-140369205	K562	blood:	n/a	n/a
6	POLR2A	chr7:140368928-140369128	MCF10A-Er-Src	breast:	n/a	n/a
7	MAFK	chr7:140369082-140369239	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140365461..140369460-chr7:140370034..140373881,3	K562	blood:
2	chr7:140367204..140371045-chr7:140371353..140375077,7	MCF-7	breast:

Variant related genes	Relation type
ADCK2	TF binding region
ENSG00000133597	Chromatin interaction
ENSG00000146966	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10228254	0.85[ASN][1000 genomes]
rs10241711	0.83[CHB][hapmap]
rs10258462	0.85[ASN][1000 genomes]
rs10258465	0.85[ASN][1000 genomes]
rs10260676	0.83[ASN][1000 genomes]
rs1140034	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12375245	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs1267600	0.91[CHB][hapmap]
rs1267601	0.91[CHB][hapmap]
rs1267606	0.91[CHB][hapmap]
rs1267611	0.81[CHB][hapmap]
rs1267613	0.81[CHB][hapmap]
rs1267619	0.91[CHB][hapmap]
rs1267636	0.81[CHB][hapmap]
rs1267638	0.91[CHB][hapmap]
rs1267642	0.81[CHB][hapmap]
rs1267643	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs1267644	0.81[CHB][hapmap]
rs1267649	0.91[CHB][hapmap]
rs1639675	0.91[CHB][hapmap]
rs1639678	0.91[CHB][hapmap]
rs1639679	0.81[CHB][hapmap]
rs17161666	0.83[CHB][hapmap]
rs17161668	0.81[ASN][1000 genomes]
rs1733827	0.91[CHB][hapmap]
rs1733832	0.91[CHB][hapmap]
rs2364393	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2364394	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2364395	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364396	0.83[CHB][hapmap]
rs2364397	0.83[ASW][hapmap];0.83[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2535951	0.91[CHB][hapmap]
rs28517771	0.90[ASN][1000 genomes]
rs2907950	0.89[ASN][1000 genomes]
rs2930315	0.94[ASN][1000 genomes]
rs2930318	0.94[ASN][1000 genomes]
rs2930319	0.94[ASN][1000 genomes]
rs2930331	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2968549	0.87[ASN][1000 genomes]
rs2968550	0.83[ASW][hapmap];0.83[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2968551	0.92[ASN][1000 genomes]
rs2968553	0.83[ASW][hapmap];0.83[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2968555	0.96[ASN][1000 genomes]
rs2968558	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2968559	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4624945	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4725799	0.81[ASN][1000 genomes]
rs4727021	0.81[ASN][1000 genomes]
rs4727036	0.81[ASN][1000 genomes]
rs4727040	0.83[CHB][hapmap]
rs4727041	0.83[CHB][hapmap]
rs6464036	0.91[CHB][hapmap]
rs6464937	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977834	0.87[ASN][1000 genomes]
rs73505645	0.90[ASN][1000 genomes]
rs73505647	0.88[ASN][1000 genomes]
rs7792746	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7794857	0.85[ASN][1000 genomes]
rs7802537	0.94[ASW][hapmap]
rs7803697	0.83[ASW][hapmap];0.83[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7809339	0.81[ASN][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	nsv831157	chr7:140241339-140426876	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh 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	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4727011	DGKI	cis	cerebellum	SCAN
rs4727011	ADCK2	Cis_1M	lymphoblastoid	RTeQTL
rs4727011	TMEM139	cis	parietal	SCAN
rs4727011	NDUFB2	cis	lymphoblastoid	seeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140365800-140372000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr7:140367400-140371800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:140367600-140370600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:140368000-140371800	Weak transcription	Fetal Kidney	kidney
5	chr7:140368400-140369600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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