Variant report

Variant	rs2631249
Chromosome Location	chr4:102872175-102872176
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1027013	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11930376	0.85[ASN][1000 genomes]
rs11931658	0.83[ASN][1000 genomes]
rs11932972	0.85[ASN][1000 genomes]
rs11933157	0.85[ASN][1000 genomes]
rs11934097	0.85[ASN][1000 genomes]
rs11939568	0.85[ASN][1000 genomes]
rs11940934	0.84[ASN][1000 genomes]
rs11942437	0.82[ASN][1000 genomes]
rs13101528	0.85[ASN][1000 genomes]
rs13103438	0.85[ASN][1000 genomes]
rs13116542	0.83[ASN][1000 genomes]
rs13126550	0.84[ASN][1000 genomes]
rs13142517	0.85[ASN][1000 genomes]
rs1352174	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1363067	0.81[ASN][1000 genomes]
rs1386173	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1386176	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1486572	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1843680	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2631244	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2631246	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2850375	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2850377	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2850378	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2850379	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2850383	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2850387	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2851319	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2851320	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2851328	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2851329	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851333	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851334	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2851336	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34208976	0.85[ASN][1000 genomes]
rs34321727	0.85[ASN][1000 genomes]
rs34814827	0.85[ASN][1000 genomes]
rs35201947	0.84[ASN][1000 genomes]
rs35860418	0.85[ASN][1000 genomes]
rs3733197	0.96[ASN][1000 genomes]
rs4295265	0.94[ASN][1000 genomes]
rs4345184	0.85[ASN][1000 genomes]
rs4698971	0.84[ASN][1000 genomes]
rs4698975	0.84[ASN][1000 genomes]
rs4698977	0.83[ASN][1000 genomes]
rs4698978	0.85[ASN][1000 genomes]
rs4698979	0.83[ASN][1000 genomes]
rs60448423	0.85[ASN][1000 genomes]
rs6830565	0.85[ASN][1000 genomes]
rs7662572	0.85[ASN][1000 genomes]
rs901406	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs923206	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs923207	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs976654	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9790475	0.85[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
rs2631249	BANK1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102860800-102873600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:102866200-102875400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:102866600-102874200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:102866800-102874200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr4:102869400-102889200	Strong transcription	Primary B cells from peripheral blood	blood
6	chr4:102869800-102872800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr4:102870200-102872400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr4:102870200-102872400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr4:102870200-102872800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:102870400-102875600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:102870800-102872200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr4:102871000-102872400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr4:102871000-102872400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr4:102871000-102872400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:102871200-102872200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr4:102871800-102872200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:102871800-102872200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:102871800-102872200	Enhancers	A549	lung
19	chr4:102872000-102872200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:102872000-102873200	Weak transcription	Primary B cells from cord blood	blood
21	chr4:102872000-102874400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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