Variant report

Variant	rs73088660
Chromosome Location	chr12:44711845-44711846
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	RAD21	chr12:44711320-44711864	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr12:44711780-44711930	AG04449	skin:	n/a	n/a
3	RAD21	chr12:44711351-44711902	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr12:44711807-44711977	A549	lung:	n/a	n/a
5	CTCF	chr12:44711411-44711849	MCF-7	breast:	n/a	n/a
6	RAD21	chr12:44711152-44711964	SK-N-SH	brain:	n/a	n/a
7	CTCF	chr12:44711308-44712219	SK-N-SH	brain:	n/a	n/a
8	CTCF	chr12:44711700-44711850	GM12869	blood:	n/a	n/a
9	RAD21	chr12:44711301-44711957	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr12:44711385-44711872	GM12892	blood:	n/a	n/a
11	CTCF	chr12:44711740-44711890	GM12868	blood:	n/a	n/a
12	CTCF	chr12:44711234-44711910	A549	lung:	n/a	n/a
13	POLR2A	chr12:44711652-44711848	MCF-7	breast:	n/a	n/a
14	SMC3	chr12:44711185-44711990	SK-N-SH	brain:	n/a	n/a
15	CTCF	chr12:44711384-44711846	Fibrobl	skin:	n/a	n/a
16	CTCF	chr12:44711700-44711850	GM12868	blood:	n/a	n/a
17	CTCF	chr12:44711800-44711950	GM12874	blood:	n/a	n/a

Variant related genes	Relation type
TMEM117	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1316959	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1353148	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55726837	0.81[EUR][1000 genomes]
rs55761438	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55882010	0.84[AMR][1000 genomes]
rs56126066	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56204845	0.94[EUR][1000 genomes]
rs56209461	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56246701	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs68098210	0.94[EUR][1000 genomes]
rs73086772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73086790	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73086798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73088659	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73088663	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73088667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73088671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73088684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73088689	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73088699	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73088702	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73090608	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73090670	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73090675	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73090676	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73090679	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73090681	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73090683	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73090698	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73090700	0.94[EUR][1000 genomes]
rs73092503	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73092504	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73092506	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73092508	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73092511	0.94[EUR][1000 genomes]
rs73094321	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73094394	0.84[AMR][1000 genomes]
rs73094402	0.84[AMR][1000 genomes]
rs73096308	0.84[AMR][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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1038498	chr12:44679455-44816572	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv520635	chr12:44707667-44720874	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44699000-44712600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:44699000-44713800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr12:44699000-44736000	Weak transcription	Pancreas	Pancrea
4	chr12:44699000-44782000	Weak transcription	Aorta	Aorta
5	chr12:44709200-44743200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:44711600-44712000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:44711600-44712800	Enhancers	Esophagus	oesophagus
8	chr12:44711800-44712400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:44711800-44712600	Enhancers	HMEC	breast
10	chr12:44711800-44712600	Enhancers	NHEK	skin
11	chr12:44711800-44713000	Strong transcription	Fetal Intestine Small	intestine

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