Variant report

Variant	rs10183462
Chromosome Location	chr2:100939474-100939475
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr2:100937282-100939629	NT2-D1	testis:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:100939441..100941644-chr2:100962482..100964041,2	K562	blood:
2	chr2:100104533..100107300-chr2:100936927..100940750,3	MCF-7	breast:
3	chr2:100924962..100929082-chr2:100936842..100940898,4	K562	blood:
4	chr2:100936794..100939483-chr2:101033248..101035645,2	K562	blood:
5	chr2:100924962..100929454-chr2:100936842..100940898,4	K562	blood:
6	chr2:100937085..100941836-chr2:101033510..101036438,4	MCF-7	breast:

No data

Variant related genes	Relation type
LONRF2	TF binding region
ENSG00000170500	Chromatin interaction
ENSG00000135945	Chromatin interaction
ENSG00000115526	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10169580	1.00[EUR][1000 genomes]
rs10178929	1.00[EUR][1000 genomes]
rs10183456	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10186689	1.00[EUR][1000 genomes]
rs10187094	1.00[EUR][1000 genomes]
rs10188619	1.00[EUR][1000 genomes]
rs10190243	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10191099	1.00[EUR][1000 genomes]
rs10191655	1.00[EUR][1000 genomes]
rs10193186	1.00[EUR][1000 genomes]
rs10194087	1.00[EUR][1000 genomes]
rs10194280	1.00[EUR][1000 genomes]
rs10197013	1.00[EUR][1000 genomes]
rs10205784	1.00[EUR][1000 genomes]
rs10207091	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10207566	1.00[EUR][1000 genomes]
rs1107428	1.00[EUR][1000 genomes]
rs11123831	1.00[EUR][1000 genomes]
rs12329351	1.00[EUR][1000 genomes]
rs13391540	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13407391	1.00[EUR][1000 genomes]
rs13413021	1.00[EUR][1000 genomes]
rs13416287	1.00[EUR][1000 genomes]
rs13417574	1.00[EUR][1000 genomes]
rs13425645	1.00[EUR][1000 genomes]
rs13427376	1.00[EUR][1000 genomes]
rs17024405	1.00[EUR][1000 genomes]
rs28485289	1.00[EUR][1000 genomes]
rs28549897	1.00[EUR][1000 genomes]
rs28631885	1.00[EUR][1000 genomes]
rs28757637	1.00[EUR][1000 genomes]
rs4597550	1.00[EUR][1000 genomes]
rs56377332	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57231149	1.00[EUR][1000 genomes]
rs59036130	1.00[EUR][1000 genomes]
rs60292856	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6542927	1.00[EUR][1000 genomes]
rs6542928	1.00[EUR][1000 genomes]
rs6542935	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6723222	1.00[EUR][1000 genomes]
rs6733677	1.00[EUR][1000 genomes]
rs6734881	1.00[EUR][1000 genomes]
rs6742048	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6755284	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6759686	1.00[EUR][1000 genomes]
rs72954123	1.00[EUR][1000 genomes]
rs73964443	1.00[EUR][1000 genomes]
rs73968406	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7563037	1.00[EUR][1000 genomes]
rs7563954	1.00[EUR][1000 genomes]
rs7564318	1.00[EUR][1000 genomes]
rs7566095	1.00[EUR][1000 genomes]
rs7569334	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7585806	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7609272	1.00[EUR][1000 genomes]
rs9808480	1.00[EUR][1000 genomes]
rs995110	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs995132	1.00[EUR][1000 genomes]
rs995133	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv2753837	chr2:100928086-100955814	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3323401	chr2:100935920-100940518	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv3359521	chr2:100937345-100939893	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv3501611	chr2:100937370-100939668	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv3501612	chr2:100937370-100939668	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100937800-100939600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:100937800-100939600	Active TSS	Fetal Brain Female	brain
3	chr2:100939000-100939600	Bivalent Enhancer	Primary B cells from cord blood	blood
4	chr2:100939400-100939600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:100939400-100939600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr2:100939400-100939600	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr2:100939400-100939800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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