Variant report

Variant	rs1347732
Chromosome Location	chr2:183175422-183175423
allele	A/C
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	USF1	chr2:183175379-183175761	H1-hESC	embryonic stem cell:	n/a	n/a
2	USF1	chr2:183175361-183175780	H1-hESC	embryonic stem cell:	n/a	n/a
3	USF1	chr2:183175361-183175671	ECC-1	luminal epithelium:	n/a	n/a
4	USF1	chr2:183175321-183175773	HCT-116	colon:	n/a	n/a
5	USF1	chr2:183175416-183175680	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:183172864..183175852-chr2:183181543..183183109,2	K562	blood:

Variant related genes	Relation type
RN7SL267P	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10182266	1.00[MEX][hapmap]
rs10206828	1.00[CHB][hapmap]
rs13432152	1.00[MEX][hapmap]
rs1595445	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1595446	1.00[ASN][1000 genomes]
rs1595448	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1595449	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1595450	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16823158	1.00[JPT][hapmap]
rs16823179	1.00[JPT][hapmap]
rs16823201	1.00[JPT][hapmap]
rs16823203	1.00[JPT][hapmap]
rs16823207	1.00[JPT][hapmap]
rs16823222	1.00[JPT][hapmap]
rs16823227	1.00[JPT][hapmap]
rs16823234	1.00[JPT][hapmap]
rs16823236	1.00[JPT][hapmap]
rs16823243	1.00[JPT][hapmap]
rs2368294	1.00[JPT][hapmap]
rs2368295	1.00[JPT][hapmap]
rs2448980	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs2577649	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2577654	1.00[ASN][1000 genomes]
rs2577655	1.00[ASN][1000 genomes]
rs2577658	1.00[ASN][1000 genomes]
rs2577660	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2623409	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2623410	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2623412	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2623421	1.00[MEX][hapmap]
rs2623427	1.00[ASN][1000 genomes]
rs2623430	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2623432	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs2623436	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs6740124	1.00[MEX][hapmap]
rs6747766	1.00[JPT][hapmap]
rs6759450	1.00[MEX][hapmap]
rs7578466	1.00[MEX][hapmap]
rs833120	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs833122	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs833123	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs833127	1.00[ASN][1000 genomes]
rs833144	1.00[ASN][1000 genomes]
rs833145	1.00[ASN][1000 genomes]
rs833146	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583913	chr2:183043563-183243313	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1008825	chr2:183067339-183228668	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv536066	chr2:183067339-183228668	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv459955	chr2:183170516-183204369	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv459956	chr2:183170516-183204369	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv583916	chr2:183170516-183204369	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183158800-183183200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:183175000-183175600	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:183175400-183175600	Weak transcription	Aorta	Aorta

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