Variant report

Variant	rs72813875
Chromosome Location	chr2:56219232-56219233
allele	A/G
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	GATA2	chr2:56219215-56220138	HUVEC	blood vessel:	n/a	chr2:56219798-56219807 chr2:56219789-56219806 chr2:56219798-56219808 chr2:56219800-56219807 chr2:56219793-56219814 chr2:56219743-56219756 chr2:56219797-56219811 chr2:56219800-56219810
2	EP300	chr2:56219221-56220328	SK-N-SH	brain:	n/a	n/a
3	TEAD4	chr2:56219191-56220265	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr2:56218058-56220673	HUVEC	blood vessel:	n/a	n/a
5	PBX3	chr2:56219143-56220227	SK-N-SH	brain:	n/a	n/a
6	TCF12	chr2:56219215-56220363	A549	lung:	n/a	n/a
7	JUND	chr2:56218944-56220314	SK-N-SH	brain:	n/a	chr2:56219826-56219833 chr2:56219825-56219833
8	EP300	chr2:56219136-56220322	A549	lung:	n/a	n/a
9	GATA3	chr2:56219088-56220328	SK-N-SH	brain:	n/a	chr2:56219798-56219807 chr2:56219789-56219806 chr2:56219798-56219808 chr2:56219800-56219807 chr2:56219793-56219814 chr2:56219743-56219756 chr2:56219800-56219810
10	POLR2A	chr2:56219107-56220630	HUVEC	blood vessel:	n/a	n/a
11	TCF12	chr2:56219134-56220225	SK-N-SH	brain:	n/a	n/a
12	TCF12	chr2:56219131-56220400	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr2:56218938-56220680	HUVEC	blood vessel:	n/a	n/a
14	NFIC	chr2:56219137-56220372	SK-N-SH	brain:	n/a	chr2:56219489-56219505
15	GATA3	chr2:56219105-56220365	A549	lung:	n/a	chr2:56219798-56219807 chr2:56219789-56219806 chr2:56219798-56219808 chr2:56219800-56219807 chr2:56219793-56219814 chr2:56219743-56219756 chr2:56219800-56219810

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:56214240..56215835-chr2:56218212..56220191,2	MCF-7	breast:
2	chr2:56217008..56219233-chr2:56221111..56224102,2	MCF-7	breast:

Variant related genes	Relation type
MIR216A	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10518794	0.89[EUR][1000 genomes]
rs55676306	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55749412	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55811442	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55845766	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55912959	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56058144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56195925	0.95[EUR][1000 genomes]
rs56309449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56412571	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72813864	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72813868	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72813873	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72813877	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72813878	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72813879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72813880	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72813884	0.95[EUR][1000 genomes]
rs72813888	0.95[EUR][1000 genomes]
rs72813889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72813894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72813900	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72813901	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72813902	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72815903	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72815905	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72815906	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72815907	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72815909	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72815910	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72815912	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72815915	0.89[AMR][1000 genomes]
rs7600678	0.95[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	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv2757799	chr2:56178439-56472394	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	esv2759051	chr2:56178439-56472394	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised 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 miRNA	34 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	chr2:56214600-56219600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:56217000-56223200	Enhancers	HUVEC	blood vessel
3	chr2:56217200-56222800	Weak transcription	Pancreas	Pancrea
4	chr2:56218000-56219600	Weak transcription	Aorta	Aorta
5	chr2:56218000-56220400	Enhancers	HSMMtube	muscle
6	chr2:56218000-56222400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:56218400-56221000	Enhancers	Hela-S3	cervix
8	chr2:56218400-56221200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:56218400-56222200	Enhancers	HSMM	muscle
10	chr2:56218400-56223000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:56218600-56220000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:56218600-56220600	Enhancers	NH-A	brain
13	chr2:56218600-56221200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:56218800-56220000	Enhancers	A549	lung
15	chr2:56218800-56220400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:56218800-56220600	Enhancers	NHDF-Ad	bronchial
17	chr2:56218800-56220600	Enhancers	Osteobl	bone
18	chr2:56219000-56220000	Enhancers	Colon Smooth Muscle	Colon
19	chr2:56219000-56221000	Enhancers	NHLF	lung
20	chr2:56219000-56221200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:56219000-56221200	Enhancers	HMEC	breast

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