Variant report

Variant	rs2631244
Chromosome Location	chr4:102888729-102888730
allele	C/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	TCF12	chr4:102888656-102889459	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:102880000..102881759-chr4:102886736..102889314,2	MCF-7	breast:
2	chr4:102872789..102875813-chr4:102887302..102889181,3	MCF-7	breast:

Variant related genes	Relation type
MTND5P5	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1027013	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11930376	0.82[ASN][1000 genomes]
rs11931658	0.80[ASN][1000 genomes]
rs11932972	0.82[ASN][1000 genomes]
rs11933157	0.82[ASN][1000 genomes]
rs11934097	0.82[ASN][1000 genomes]
rs11939568	0.82[ASN][1000 genomes]
rs11940934	0.81[ASN][1000 genomes]
rs13101528	0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs13103438	0.82[ASN][1000 genomes]
rs13116542	0.80[ASN][1000 genomes]
rs13126550	0.81[ASN][1000 genomes]
rs13142517	0.82[ASN][1000 genomes]
rs1352174	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1386173	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1386176	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1486572	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1843680	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2631246	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2631249	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2850375	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2850377	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2850378	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2850379	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2850383	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2850387	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2851319	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2851320	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2851328	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2851329	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2851333	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2851334	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2851336	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34208976	0.82[ASN][1000 genomes]
rs34321727	0.82[ASN][1000 genomes]
rs34814827	0.82[ASN][1000 genomes]
rs35201947	0.81[ASN][1000 genomes]
rs35860418	0.82[ASN][1000 genomes]
rs3733197	0.93[ASN][1000 genomes]
rs4295265	0.91[ASN][1000 genomes]
rs4345184	0.82[ASN][1000 genomes]
rs4698971	0.81[ASN][1000 genomes]
rs4698975	0.81[ASN][1000 genomes]
rs4698977	0.94[CHB][hapmap];0.89[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4698978	0.82[ASN][1000 genomes]
rs4698979	0.80[ASN][1000 genomes]
rs60448423	0.82[ASN][1000 genomes]
rs6830565	0.82[ASN][1000 genomes]
rs7662572	0.82[ASN][1000 genomes]
rs901406	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs923206	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs923207	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs976654	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9790475	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869164	chr4:102483189-103213842	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv999861	chr4:102576115-102930562	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2757945	chr4:102662699-103008940	Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2759269	chr4:102662699-103008940	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1011180	chr4:102685236-102985945	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv537202	chr4:102685236-102985945	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2757074	chr4:102772861-102933949	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv2752360	chr4:102790822-102888822	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv879682	chr4:102859835-103088491	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2631244	BANK1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102869400-102889200	Strong transcription	Primary B cells from peripheral blood	blood
2	chr4:102882600-102889600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:102883400-102891400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:102883600-102889800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:102883600-102891400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:102884800-102889400	Strong transcription	Primary B cells from cord blood	blood
7	chr4:102887800-102889400	Enhancers	A549	lung
8	chr4:102888000-102889200	Weak transcription	Stomach Mucosa	stomach
9	chr4:102888000-102890400	Enhancers	Hela-S3	cervix
10	chr4:102888600-102890400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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