Variant report

Variant	rs34183555
Chromosome Location	chr5:49951698-49951699
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:49951146..49952897-chr5:49957210..49959408,2	MCF-7	breast:
2	chr5:49949575..49951807-chr5:49954503..49956971,2	MCF-7	breast:
3	chr5:49951637..49953470-chr5:49962458..49964484,2	MCF-7	breast:
4	chr5:49951519..49954288-chr5:49991653..49994102,2	MCF-7	breast:
5	chr5:49951565..49954104-chr5:49960060..49962047,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271752	Chromatin interaction
ENSG00000151883	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10052372	0.81[EUR][1000 genomes]
rs11950506	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11952107	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11954064	0.87[EUR][1000 genomes]
rs11955651	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11955934	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11959326	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13155662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13156735	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13157079	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13159045	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13159239	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13159553	0.83[AMR][1000 genomes]
rs13161225	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13162738	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13163470	0.85[EUR][1000 genomes]
rs13163802	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13166819	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13167408	0.83[AMR][1000 genomes]
rs13169153	0.85[EUR][1000 genomes]
rs13169200	0.83[AMR][1000 genomes]
rs13172426	0.83[AMR][1000 genomes]
rs13172836	0.83[AMR][1000 genomes]
rs13174498	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13176737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13180506	0.83[AMR][1000 genomes]
rs13181031	0.91[EUR][1000 genomes]
rs13181117	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13183686	0.83[AMR][1000 genomes]
rs13183910	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13186653	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13189183	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13190144	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16886309	0.85[EUR][1000 genomes]
rs34264957	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34414061	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34443769	0.83[AMR][1000 genomes]
rs34677483	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34758774	0.94[EUR][1000 genomes]
rs34827507	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34855203	0.91[EUR][1000 genomes]
rs35128589	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35210389	0.83[AMR][1000 genomes]
rs35292338	0.83[AMR][1000 genomes]
rs35347195	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35434227	0.83[AMR][1000 genomes]
rs35473824	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35596019	0.83[AMR][1000 genomes]
rs36187734	0.83[AMR][1000 genomes]
rs41270305	0.83[AMR][1000 genomes]
rs6859621	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6880398	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6883701	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6888271	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6888315	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71615974	0.83[AMR][1000 genomes]
rs71615975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71615978	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71615981	0.92[EUR][1000 genomes]
rs71615983	0.85[EUR][1000 genomes]
rs71615984	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71615986	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71615988	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs71615990	0.82[EUR][1000 genomes]
rs71615991	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs71631479	0.83[AMR][1000 genomes]
rs71631481	0.83[AMR][1000 genomes]
rs7717073	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7726225	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7730188	0.83[AMR][1000 genomes]
rs7733931	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016583	chr5:49455624-50116720	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1023140	chr5:49455624-50121623	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1022067	chr5:49584188-49960083	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv537758	chr5:49584188-49960083	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv918220	chr5:49584188-50111282	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv931010	chr5:49584189-50118254	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv523212	chr5:49597497-50058043	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv2757995	chr5:49748352-50058182	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv2759342	chr5:49748352-50058182	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription 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	8 gene(s)	inside rSNPs	diseases
10	esv16870	chr5:49885849-49989415	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv964851	chr5:49945480-49952101	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34183555	LOC647121	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49949200-49951800	Enhancers	Primary B cells from cord blood	blood
2	chr5:49949600-49952800	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr5:49949800-49961600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:49950000-49952000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:49950000-49959400	Weak transcription	Primary T cells from cord blood	blood
6	chr5:49950200-49951800	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr5:49950200-49952000	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr5:49950200-49952200	Weak transcription	Small Intestine	intestine
9	chr5:49950200-49959200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr5:49951000-49953200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr5:49951200-49953400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr5:49951200-49954000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr5:49951400-49952000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:49951400-49952600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:49951600-49951800	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr5:49951600-49952000	Enhancers	Colon Smooth Muscle	Colon

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