Variant report

Variant	rs2851328
Chromosome Location	chr4:102874526-102874527
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:64045097..64045973-chr4:102874042..102874640,2	MCF-7	breast:
2	chr4:102874020..102874843-chr4:102891401..102892080,2	MCF-7	breast:
3	chr4:102860897..102862820-chr4:102873982..102876353,2	MCF-7	breast:
4	chr4:102872789..102875813-chr4:102887302..102889181,3	MCF-7	breast:
5	chr4:102842276..102843131-chr4:102874015..102874871,3	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

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

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102866200-102875400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:102869400-102889200	Strong transcription	Primary B cells from peripheral blood	blood
3	chr4:102870400-102875600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:102872200-102874800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:102872200-102875200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:102872200-102883400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:102872400-102874800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:102872400-102875200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr4:102872800-102874800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr4:102873200-102883600	Strong transcription	Primary B cells from cord blood	blood
11	chr4:102873600-102875800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:102873600-102876800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:102873800-102875000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr4:102873800-102876000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr4:102873800-102876000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:102874000-102874800	Enhancers	A549	lung
17	chr4:102874000-102877600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:102874200-102874600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr4:102874200-102875800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr4:102874200-102878000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:102874400-102875000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr4:102874400-102875000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr4:102874400-102877800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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