Variant report

Variant	rs62321991
Chromosome Location	chr4:95368942-95368943
allele	A/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	STAT3	chr4:95368637-95369111	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr4:95368863-95369140	MCF10A-Er-Src	breast:	n/a	chr4:95369026-95369033 chr4:95369025-95369033 chr4:95369025-95369033
3	FOS	chr4:95368833-95369432	MCF10A-Er-Src	breast:	n/a	chr4:95369026-95369033 chr4:95369025-95369033 chr4:95369025-95369033
4	GATA1	chr4:95368480-95369035	PBDEFetal	blood:	n/a	chr4:95368751-95368762
5	FOS	chr4:95368843-95369409	MCF10A-Er-Src	breast:	n/a	chr4:95369026-95369033 chr4:95369025-95369033 chr4:95369025-95369033
6	MYC	chr4:95368932-95369136	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr4:95368921-95369121	MCF10A-Er-Src	breast:	n/a	n/a
8	EP300	chr4:95368778-95369290	Hela-S3	cervix:	n/a	chr4:95369024-95369033 chr4:95368980-95368988
9	TCF7L2	chr4:95368586-95369876	HEK293	kidney:	n/a	chr4:95369132-95369146 chr4:95369131-95369147 chr4:95369131-95369147
10	MYC	chr4:95368785-95368976	MCF10A-Er-Src	breast:	n/a	n/a
11	KAP1	chr4:95368379-95369839	HEK293	kidney:	n/a	n/a
12	FOS	chr4:95368779-95369188	MCF10A-Er-Src	breast:	n/a	chr4:95369026-95369033 chr4:95369025-95369033 chr4:95369025-95369033
13	KAP1	chr4:95368325-95369702	U2OS	brain:	n/a	n/a
14	CEBPB	chr4:95368803-95369627	Hela-S3	cervix:	n/a	chr4:95369278-95369289 chr4:95369034-95369047
15	TCF7L2	chr4:95368853-95369459	HCT-116	colon:	n/a	chr4:95369132-95369146 chr4:95369131-95369147 chr4:95369131-95369147

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95347951..95350564-chr4:95367553..95369521,2	MCF-7	breast:

Variant related genes	Relation type
PDLIM5	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10003483	0.94[ASN][1000 genomes]
rs10033876	0.89[EUR][1000 genomes]
rs10440326	0.91[EUR][1000 genomes]
rs28445841	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28491414	0.91[EUR][1000 genomes]
rs60191671	0.93[EUR][1000 genomes]
rs62319387	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62319388	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62319389	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62321990	0.82[ASN][1000 genomes]
rs62321992	0.96[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62321993	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62321994	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62321996	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6843496	0.94[ASN][1000 genomes]
rs9996560	0.89[EUR][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	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95365400-95369200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr4:95366000-95369600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:95366600-95369200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:95366600-95369800	Enhancers	Osteobl	bone
5	chr4:95367000-95369600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:95367200-95369800	Enhancers	HSMM	muscle
7	chr4:95367200-95369800	Enhancers	NHDF-Ad	bronchial
8	chr4:95367200-95370400	Enhancers	HMEC	breast
9	chr4:95367200-95370600	Enhancers	Hela-S3	cervix
10	chr4:95367400-95369600	Enhancers	NHLF	lung
11	chr4:95367400-95370200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:95367400-95370400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:95367400-95370400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:95367400-95370400	Enhancers	NHEK	skin
15	chr4:95367600-95369200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr4:95367600-95369200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr4:95367600-95369800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:95367800-95369000	Weak transcription	A549	lung
19	chr4:95367800-95370600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr4:95367800-95372200	Weak transcription	Psoas Muscle	Psoas
21	chr4:95368200-95369000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:95368200-95370000	Enhancers	HepG2	liver
23	chr4:95368200-95370200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:95368200-95371000	Enhancers	Fetal Intestine Large	intestine
25	chr4:95368200-95372000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:95368400-95370600	Enhancers	Fetal Intestine Small	intestine
27	chr4:95368400-95370600	Enhancers	K562	blood
28	chr4:95368600-95369200	Weak transcription	Fetal Heart	heart
29	chr4:95368600-95370200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr4:95368600-95372200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr4:95368600-95372200	Weak transcription	NH-A	brain
32	chr4:95368800-95370200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:95368800-95370600	Enhancers	HUVEC	blood vessel
34	chr4:95368800-95372000	Weak transcription	HSMMtube	muscle

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