Variant report

Variant	rs9683242
Chromosome Location	chr3:43256013-43256014
allele	C/T
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	ESR1	chr3:43255981-43256780	T-47D	breast:	n/a	n/a
2	GATA3	chr3:43255990-43256766	MCF-7	breast:	n/a	chr3:43256344-43256353
3	ESR1	chr3:43255997-43256691	T-47D	breast:	n/a	n/a
4	ESR1	chr3:43255962-43256761	T-47D	breast:	n/a	n/a
5	ESR1	chr3:43255969-43256742	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:43226507..43227731-chr3:43255831..43257041,6	MCF-7	breast:
2	chr3:43254448..43258211-chr3:43258239..43261327,4	K562	blood:
3	chr3:43226566..43227731-chr3:43255831..43257041,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000222331	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs13095863	0.82[JPT][hapmap]
rs1316296	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1316297	0.98[EUR][1000 genomes]
rs1320156	0.98[EUR][1000 genomes]
rs17075317	1.00[JPT][hapmap]
rs17075335	0.82[JPT][hapmap]
rs17075342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17075378	0.98[EUR][1000 genomes]
rs17075381	0.98[EUR][1000 genomes]
rs17075398	0.98[EUR][1000 genomes]
rs1814902	0.95[EUR][1000 genomes]
rs2372355	0.98[EUR][1000 genomes]
rs4585168	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4682675	0.95[EUR][1000 genomes]
rs4682677	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4682872	0.98[EUR][1000 genomes]
rs4682874	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4682875	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4682876	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4682879	0.95[EUR][1000 genomes]
rs4682882	0.82[JPT][hapmap]
rs4683364	0.82[JPT][hapmap]
rs4683366	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683367	0.98[EUR][1000 genomes]
rs4683369	0.98[EUR][1000 genomes]
rs6781696	0.86[JPT][hapmap]
rs6793392	0.82[JPT][hapmap]
rs7611123	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7621298	1.00[JPT][hapmap]
rs7621511	0.98[EUR][1000 genomes]
rs9681394	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9809273	0.98[EUR][1000 genomes]
rs9820946	0.86[JPT][hapmap]
rs9875582	0.82[JPT][hapmap]

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	nsv834672	chr3:43132722-43306272	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43245000-43258800	Weak transcription	Right Atrium	heart
2	chr3:43247800-43259000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:43253200-43262400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr3:43253400-43259000	Weak transcription	Spleen	Spleen
5	chr3:43253600-43256400	Weak transcription	Pancreas	Pancrea
6	chr3:43253600-43256600	Enhancers	Liver	Liver
7	chr3:43253600-43257400	Weak transcription	Left Ventricle	heart
8	chr3:43254000-43257000	Enhancers	Fetal Intestine Small	intestine
9	chr3:43254000-43257200	Enhancers	HMEC	breast
10	chr3:43254000-43258000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:43254200-43257800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:43254400-43256800	Enhancers	Fetal Intestine Large	intestine
13	chr3:43254400-43257200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:43255200-43256400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:43255200-43256400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:43255200-43256400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr3:43255400-43256400	Weak transcription	Stomach Mucosa	stomach
18	chr3:43255800-43257000	Enhancers	Duodenum Mucosa	Duodenum
19	chr3:43256000-43256600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:43256000-43256600	Enhancers	Fetal Kidney	kidney
21	chr3:43256000-43257000	Flanking Active TSS	NHEK	skin

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