Variant report

Variant	rs11716857
Chromosome Location	chr3:112018435-112018436
allele	G/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	E2F4	chr3:112018428-112018908	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000239482	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11714917	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13073116	1.00[ASN][1000 genomes]
rs17513726	0.83[ASN][1000 genomes]
rs2280462	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs2399411	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4234416	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4550804	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56037521	0.83[ASN][1000 genomes]
rs62264134	0.83[ASN][1000 genomes]
rs62264135	0.83[ASN][1000 genomes]
rs62264136	0.83[ASN][1000 genomes]
rs62264137	0.83[ASN][1000 genomes]
rs6438066	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6438067	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6438068	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs6771014	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6774405	0.91[ASN][1000 genomes]
rs6809034	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7619941	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs939576	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs939577	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs939578	1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9814088	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9818526	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv10307	chr3:111903974-112087686	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv3949	chr3:111998512-112044060	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112013000-112021400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:112013200-112020200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr3:112013200-112021000	Weak transcription	Thymus	Thymus
4	chr3:112013200-112021400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:112013400-112021000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr3:112013400-112022200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr3:112016400-112020800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr3:112016600-112022000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:112016600-112022400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr3:112017000-112021600	Weak transcription	Fetal Brain Male	brain
11	chr3:112017000-112022200	Weak transcription	Primary T cells from cord blood	blood
12	chr3:112017200-112022000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr3:112017600-112022000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr3:112017600-112022200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr3:112017800-112020800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:112017800-112021000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:112017800-112021800	Weak transcription	Primary B cells from cord blood	blood
18	chr3:112017800-112022000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr3:112017800-112022200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr3:112018000-112019400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:112018000-112020600	Weak transcription	Fetal Thymus	thymus
22	chr3:112018000-112021200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr3:112018000-112021800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr3:112018000-112021800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr3:112018000-112021800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr3:112018000-112022000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr3:112018000-112022000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr3:112018000-112022000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr3:112018000-112022000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr3:112018000-112022200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:112018400-112021000	Weak transcription	GM12878-XiMat	blood

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