Variant report

Variant	rs3805127
Chromosome Location	chr3:121556751-121556752
allele	A/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	STAT3	chr3:121556726-121556838	MCF10A-Er-Src	breast:	n/a	n/a
2	CEBPB	chr3:121556656-121556974	K562	blood:	n/a	chr3:121556793-121556804
3	CEBPB	chr3:121556651-121556878	HepG2	liver:	n/a	chr3:121556793-121556804

No.	Distal block	Cell Line	Cell type
1	chr3:121552749..121555082-chr3:121555544..121558140,3	MCF-7	breast:
2	chr3:121553807..121555677-chr3:121556073..121558919,2	K562	blood:
3	chr3:121552768..121555553-chr3:121556073..121559770,4	K562	blood:

Variant related genes	Relation type
IQCB1	TF binding region
ENSG00000173226	Chromatin interaction
ENSG00000145088	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs11706783	0.95[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11707504	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11707518	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11714406	0.90[CEU][hapmap];0.90[JPT][hapmap]
rs11715951	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11717483	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11719093	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11719458	0.91[CEU][hapmap];0.89[JPT][hapmap]
rs11721291	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11721318	0.91[CEU][hapmap]
rs13061326	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13062684	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13065245	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13072767	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13083794	0.91[CEU][hapmap];0.90[JPT][hapmap]
rs13087578	0.91[CEU][hapmap];0.89[JPT][hapmap]
rs13090798	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1318472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13433692	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13434284	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1573819	0.80[AMR][1000 genomes]
rs17691170	0.91[CEU][hapmap];0.90[JPT][hapmap]
rs17742508	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1920320	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28660600	0.95[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28674947	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34865234	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35359572	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35679661	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4280673	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4298081	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4311252	0.95[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4413346	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57636696	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6768621	0.95[CEU][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6769102	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6776670	0.95[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6780302	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6784571	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6789736	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7629369	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7649092	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9289177	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9812137	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9812228	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9816844	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9822949	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9825248	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9826473	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9839617	0.95[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9841595	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9848027	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9856641	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9878086	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9883467	0.95[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[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	nsv591396	chr3:120970900-121557533	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv432480	chr3:121355723-121629928	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv432482	chr3:121364236-121629634	Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv432481	chr3:121364236-121637178	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv516233	chr3:121419301-121670405	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv877383	chr3:121465220-121650736	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv432483	chr3:121488995-121629634	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	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
9	nsv933192	chr3:121544496-121575871	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs3805127	IQCB1	cis	Whole Blood	GTEx
rs3805127	IQCB1	Cis_1M	lymphoblastoid	RTeQTL
rs3805127	EAF2	Cis_1M	lymphoblastoid	RTeQTL
rs3805127	HCLS1	cis	Whole Blood	GTEx
rs3805127	SLC15A2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121554600-121556800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr3:121554600-121566800	Weak transcription	Spleen	Spleen
3	chr3:121554800-121561800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:121554800-121570600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:121554800-121576600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:121554800-121581800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:121554800-121583400	Weak transcription	Psoas Muscle	Psoas
8	chr3:121554800-121604000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr3:121555000-121556800	Active TSS	Duodenum Mucosa	Duodenum
10	chr3:121555000-121571000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:121555000-121585600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr3:121555000-121592600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr3:121555000-121593400	Weak transcription	Liver	Liver
14	chr3:121555200-121556800	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr3:121555200-121558600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr3:121555200-121592000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr3:121555400-121556800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:121555400-121557800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:121555600-121557200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr3:121555600-121563600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr3:121555600-121568200	Weak transcription	Fetal Thymus	thymus
22	chr3:121555600-121569600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr3:121555600-121582000	Weak transcription	Thymus	Thymus
24	chr3:121555600-121586200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr3:121555600-121593800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr3:121555800-121556800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr3:121555800-121557600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr3:121555800-121615600	Weak transcription	Primary T cells from cord blood	blood
29	chr3:121556200-121556800	Genic enhancers	Primary B cells from peripheral blood	blood
30	chr3:121556200-121557200	Enhancers	Primary B cells from cord blood	blood
31	chr3:121556400-121556800	Active TSS	Colonic Mucosa	Colon
32	chr3:121556400-121557000	Flanking Active TSS	GM12878-XiMat	blood
33	chr3:121556600-121581600	Weak transcription	Fetal Intestine Small	intestine
34	chr3:121556600-121591400	Weak transcription	Rectal Mucosa Donor 29	rectum

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