Variant report

Variant	rs71329249
Chromosome Location	chr3:121711346-121711347
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:121552092..121554395-chr3:121711264..121713360,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173226	Chromatin interaction
ENSG00000145088	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10934565	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12488334	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12488851	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12491991	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12493408	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12493952	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12497349	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12630486	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12637351	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12638492	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13067270	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13083557	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13089878	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1920290	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1920291	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1920309	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1986368	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1986712	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2091664	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2332033	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2332035	0.84[EUR][1000 genomes]
rs2877560	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2877561	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34158925	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34181646	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34478505	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34543553	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34566912	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34696871	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34837785	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35101693	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35415993	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35737776	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35902163	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3915060	0.83[EUR][1000 genomes]
rs3942629	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4118376	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4285028	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4305455	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6790281	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71329246	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71329247	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73855476	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73855480	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73855481	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7615571	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7640872	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7651226	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[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	esv33139	chr3:121500400-122091831	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs71329249	IQCB1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121699400-121714200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr3:121702600-121711600	Weak transcription	Fetal Intestine Small	intestine
3	chr3:121704800-121721400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr3:121705000-121711600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr3:121705200-121714000	Weak transcription	HMEC	breast
6	chr3:121705200-121729400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr3:121706000-121711600	Weak transcription	Esophagus	oesophagus
8	chr3:121706000-121721200	Weak transcription	Fetal Kidney	kidney
9	chr3:121706800-121711600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr3:121707000-121714200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr3:121707400-121711800	Weak transcription	Colonic Mucosa	Colon
12	chr3:121707800-121711400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr3:121708600-121713400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:121708800-121711800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr3:121708800-121718000	Enhancers	Primary B cells from peripheral blood	blood
16	chr3:121709000-121713400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:121709000-121713600	Enhancers	Primary B cells from cord blood	blood
18	chr3:121709200-121711400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:121709200-121711600	Weak transcription	Pancreas	Pancrea
20	chr3:121709200-121719200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:121709400-121711600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr3:121709400-121711600	Weak transcription	Fetal Intestine Large	intestine
23	chr3:121709600-121711600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr3:121709600-121721800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:121709800-121712600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr3:121709800-121714000	Weak transcription	Lung	lung
27	chr3:121710400-121711400	Genic enhancers	GM12878-XiMat	blood
28	chr3:121710600-121713600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:121710800-121713200	Weak transcription	HUVEC	blood vessel
30	chr3:121711200-121713000	Strong transcription	Rectal Mucosa Donor 31	rectum

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