Variant report

Variant	rs713934
Chromosome Location	chr22:32772681-32772682
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:31829733-31836635..22:32764253-32784733	K562	blood:
2	22:31936958-31958600..22:32764253-32784733	K562	blood:
3	22:32529813-32538538..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo
4	22:32513817-32522138..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo
5	22:32360288-32405313..22:32764253-32784733	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RFPL3-1	chr22:32772651-32772708	ENSG00000230736.2
2	lnc-RFPL3-1	chr22:32772669-32772708	NONHSAT084966
3	lnc-RFPL3-1	chr22:32772651-32772708	NR_038918

No data

Variant related genes	Relation type
ENSG00000240647	Chromatin interaction
ENSG00000232707	Chromatin interaction
ENSG00000239674	Chromatin interaction
ENSG00000234479	Chromatin interaction
ENSG00000230866	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000184708	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs12160488	0.82[AFR][1000 genomes]
rs12166325	1.00[JPT][hapmap]
rs12484018	1.00[JPT][hapmap]
rs12484208	1.00[JPT][hapmap]
rs16982521	1.00[JPT][hapmap]
rs16990246	1.00[JPT][hapmap]
rs1985543	1.00[JPT][hapmap]
rs2413112	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28625291	0.81[AFR][1000 genomes]
rs28756917	0.83[EUR][1000 genomes]
rs5749412	0.88[YRI][hapmap]
rs5754027	0.92[YRI][hapmap]
rs5754030	0.85[YRI][hapmap]
rs5754036	0.88[YRI][hapmap]
rs5754037	0.84[YRI][hapmap]
rs5754040	0.89[YRI][hapmap]
rs5754044	0.89[YRI][hapmap]
rs5994553	1.00[JPT][hapmap]
rs5994554	1.00[JPT][hapmap]
rs5994556	1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes]
rs5994557	1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes]
rs5994558	0.80[AFR][1000 genomes]
rs5994559	0.83[AFR][1000 genomes]
rs5998442	0.82[AFR][1000 genomes]
rs5998443	1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes]
rs5998444	0.82[AFR][1000 genomes]
rs5998445	0.82[AFR][1000 genomes]
rs5998450	1.00[JPT][hapmap]
rs5998451	0.88[YRI][hapmap]
rs5998452	0.89[YRI][hapmap];0.81[AFR][1000 genomes]
rs5998455	1.00[JPT][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes]
rs5998458	1.00[JPT][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes]
rs5998460	0.81[AFR][1000 genomes]
rs5998463	0.92[YRI][hapmap]
rs5998464	1.00[JPT][hapmap];0.89[YRI][hapmap]
rs5998466	1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes]
rs5998467	0.83[AFR][1000 genomes]
rs5998468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61644931	0.83[AFR][1000 genomes]
rs6518774	1.00[JPT][hapmap]
rs713647	1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes]
rs7284302	1.00[JPT][hapmap];0.89[YRI][hapmap]
rs7286017	1.00[JPT][hapmap]
rs7287726	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73166395	0.86[ASN][1000 genomes]
rs738267	0.88[YRI][hapmap]
rs738268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs738269	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73881644	0.82[AFR][1000 genomes]
rs8140343	1.00[JPT][hapmap]
rs8141075	1.00[JPT][hapmap]
rs9606943	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609519	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609540	0.81[AMR][1000 genomes]
rs9609546	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422247	chr22:32486448-32788258	Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32755800-32781600	Weak transcription	Ovary	ovary
2	chr22:32762800-32788200	Weak transcription	Psoas Muscle	Psoas
3	chr22:32772000-32781200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr22:32772200-32772800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr22:32772200-32781400	Weak transcription	Fetal Intestine Small	intestine
6	chr22:32772400-32772800	Weak transcription	Gastric	stomach
7	chr22:32772600-32772800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr22:32772600-32781400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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