Variant report

Variant	rs4680465
Chromosome Location	chr3:151195678-151195679
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	TFAP2A	chr3:151195677-151196106	Hela-S3	cervix:	n/a	chr3:151195886-151195900 chr3:151195888-151195898 chr3:151195888-151195898 chr3:151195888-151195898
2	TFAP2C	chr3:151195677-151196112	Hela-S3	cervix:	n/a	chr3:151195884-151195899

No.	Distal block	Cell Line	Cell type
1	chr3:151194512..151197390-chr3:151199277..151201017,2	K562	blood:
2	chr3:151194378..151197390-chr3:151198956..151201017,3	K562	blood:
3	chr3:151189546..151191159-chr3:151195430..151197288,2	K562	blood:

Variant related genes	Relation type
MRPL42P6	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11712630	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12630095	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs12634284	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12639049	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13315624	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4128734	0.82[EUR][1000 genomes]
rs4296566	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4345047	0.81[EUR][1000 genomes]
rs4350898	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4481136	0.89[EUR][1000 genomes]
rs4484172	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4608665	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4679836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4679837	0.89[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4680464	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4680468	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4680473	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6440744	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6440745	0.90[EUR][1000 genomes]
rs6440748	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6440763	0.80[EUR][1000 genomes]
rs6798066	0.96[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6805953	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7375135	0.82[EUR][1000 genomes]
rs7427312	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7617486	0.92[EUR][1000 genomes]
rs7617799	0.92[EUR][1000 genomes]
rs7629172	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7629867	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7629912	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7636304	0.81[EUR][1000 genomes]
rs7637619	0.80[EUR][1000 genomes]
rs7647576	0.82[EUR][1000 genomes]
rs9289839	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9289840	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs9289847	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9680970	0.82[EUR][1000 genomes]
rs9683349	0.81[EUR][1000 genomes]
rs9808949	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9811565	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9817125	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9822315	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9836445	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9837972	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9846323	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9849929	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9856077	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9863245	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829757	chr3:151044880-151226442	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1000355	chr3:151108859-151243835	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv995048	chr3:151114074-151560019	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv877649	chr3:151147968-151236562	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv877650	chr3:151174010-151314449	Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv963536	chr3:151191085-151212472	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 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	chr3:151193800-151197600	Enhancers	Fetal Lung	lung
2	chr3:151194400-151195800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:151194400-151197000	Enhancers	Rectal Smooth Muscle	rectum
4	chr3:151194600-151196400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:151194800-151195800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:151194800-151195800	Weak transcription	Ovary	ovary
7	chr3:151194800-151195800	Weak transcription	Right Atrium	heart
8	chr3:151195000-151196000	Weak transcription	Colon Smooth Muscle	Colon
9	chr3:151195200-151196000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:151195400-151196200	Enhancers	Adipose Nuclei	Adipose
11	chr3:151195400-151196200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr3:151195400-151196400	Enhancers	Hela-S3	cervix
13	chr3:151195400-151196600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr3:151195400-151196600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr3:151195400-151196600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr3:151195400-151196600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr3:151195400-151196600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:151195400-151196800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr3:151195600-151196000	Enhancers	Fetal Muscle Leg	muscle
20	chr3:151195600-151197000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr3:151195600-151198400	Enhancers	Fetal Stomach	stomach

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