Variant report

Variant	rs4687833
Chromosome Location	chr3:118676492-118676493
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:118675897..118678259-chr3:118679117..118681449,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1468738	0.91[CHB][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2110365	1.00[ASW][hapmap];0.84[CEU][hapmap];0.92[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2903250	0.94[CEU][hapmap];0.84[CHB][hapmap];0.84[CHD][hapmap];0.83[GIH][hapmap];0.93[JPT][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62275716	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS 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	61 gene(s)	inside rSNPs	diseases
3	nsv1010475	chr3:118657382-118789714	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Lung function (forced expiratory flow between 25% and 75% of forced vital capacity)	24023788	GWAS catalog

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118662000-118679800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:118662000-118679800	Weak transcription	Ovary	ovary
3	chr3:118666200-118677800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:118669200-118677600	Weak transcription	Brain Angular Gyrus	brain
5	chr3:118672800-118677000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr3:118673000-118676800	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr3:118673000-118676800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr3:118673000-118677200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr3:118673200-118676600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr3:118673200-118677200	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr3:118675400-118677200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr3:118675400-118677200	Enhancers	Brain Hippocampus Middle	brain
13	chr3:118675400-118680800	Enhancers	Brain Anterior Caudate	brain
14	chr3:118675600-118676800	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr3:118675600-118677200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr3:118675600-118684800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:118676000-118676600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:118676000-118677800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:118676000-118678000	Enhancers	Primary T cells from cord blood	blood
20	chr3:118676200-118676600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr3:118676200-118676800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr3:118676200-118677000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr3:118676200-118677200	Weak transcription	Brain Substantia Nigra	brain
24	chr3:118676400-118676600	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr3:118676400-118676800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr3:118676400-118677000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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