Variant report

Variant	rs8139704
Chromosome Location	chr22:33029970-33029971
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32920308-32927723..22:33024278-33030812	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000185666	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10427961	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13340090	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985304	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16990837	1.00[CHB][hapmap]
rs16990851	1.00[CHB][hapmap]
rs3788466	1.00[JPT][hapmap]
rs56678072	1.00[ASN][1000 genomes]
rs59683873	0.94[ASN][1000 genomes]
rs60022533	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs738994	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7511209	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8137407	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8139932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609603	0.82[LWK][hapmap]
rs9619281	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9619283	0.93[LWK][hapmap];0.81[MKK][hapmap];0.82[YRI][hapmap]
rs9621513	0.95[YRI][hapmap];0.80[AFR][1000 genomes]
rs9621514	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621515	0.85[YRI][hapmap]
rs9621516	0.81[AFR][1000 genomes]
rs9784225	1.00[CHB][hapmap]

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	nsv1055541	chr22:33006967-33101138	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2762119	chr22:33006967-33101150	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1061824	chr22:33013014-33101138	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv459875	chr22:33025180-33097662	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv588896	chr22:33025180-33097662	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1064719	chr22:33028891-33159636	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33020600-33030200	Weak transcription	Colon Smooth Muscle	Colon
2	chr22:33025200-33030200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr22:33025200-33030200	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr22:33025400-33033200	Weak transcription	Fetal Kidney	kidney
5	chr22:33025600-33030200	Weak transcription	Right Atrium	heart
6	chr22:33027600-33031000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr22:33028000-33030800	Enhancers	Adipose Nuclei	Adipose
8	chr22:33028400-33030000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr22:33028800-33030000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr22:33028800-33030000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr22:33028800-33032400	Weak transcription	HepG2	liver
12	chr22:33029000-33032600	Weak transcription	Fetal Muscle Leg	muscle
13	chr22:33029000-33032600	Weak transcription	Placenta	Placenta
14	chr22:33029000-33039200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr22:33029200-33032000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr22:33029200-33036000	Weak transcription	Fetal Stomach	stomach
17	chr22:33029400-33032400	Weak transcription	Fetal Thymus	thymus

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