Variant report

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:33339333-33353583..22:33444644-33452523	Hela-S3	cervix:
2	22:32860159-32865649..22:33444644-33452523	K562	blood:
3	22:32477762-32487457..22:33444644-33452523	GM12878	blood:
4	22:32578360-32590642..22:33444644-33452523	K562	blood:
5	22:32162110-32166713..22:33444644-33452523	GM12878	blood:
6	chr22:32924494..32925619-chr22:33444878..33445805,3	K562	blood:
7	chr22:32924723..32925437-chr22:33444816..33445805,2	MCF-7	breast:
8	chr22:33396499..33397341-chr22:33445248..33445776,2	MCF-7	breast:
9	22:31864703-31891033..22:33444644-33452523	K562	blood:
10	22:32764253-32784733..22:33444644-33452523	H1-hESC	embryonic stem cell:	embryo
11	22:32920308-32927723..22:33444644-33452523	GM12878	blood:
12	22:32170492-32188129..22:33444644-33452523	Hela-S3	cervix:
13	22:33262063-33266567..22:33444644-33452523	Hela-S3	cervix:
14	22:32750950-32761732..22:33444644-33452523	H1-hESC	embryonic stem cell:	embryo
15	22:32868055-32872511..22:33444644-33452523	Hela-S3	cervix:
16	22:32188129-32210582..22:33444644-33452523	K562	blood:
17	chr22:33414130..33415076-chr22:33444854..33445742,4	MCF-7	breast:
18	22:32915608-32918105..22:33444644-33452523	K562	blood:
19	22:32802848-32805157..22:33444644-33452523	Hela-S3	cervix:
20	22:32102727-32109893..22:33444644-33452523	H1-hESC	embryonic stem cell:	embryo

No data

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1018799	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12483802	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12484648	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs16991715	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16991717	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16991758	0.85[CHB][hapmap];0.86[GIH][hapmap];0.84[JPT][hapmap];0.92[MEX][hapmap]
rs2027845	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2027846	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56103417	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57040275	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57040453	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57574537	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs57863436	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5998711	0.90[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs5998713	0.93[GIH][hapmap];0.85[MEX][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs7291280	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73881944	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73881949	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531568	chr22:33336868-33480272	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv948523	chr22:33414164-34098417	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33432400-33449800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr22:33438800-33445600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:33440600-33445600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:33440600-33446400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr22:33440600-33446600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr22:33442200-33447600	Weak transcription	HepG2	liver
7	chr22:33444800-33445600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr22:33444800-33446600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr22:33445000-33445400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr22:33445000-33445600	Enhancers	Brain Cingulate Gyrus	brain
11	chr22:33445000-33445600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr22:33445000-33445800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr22:33445000-33445800	Enhancers	Brain Anterior Caudate	brain
14	chr22:33445000-33446600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr22:33445000-33446600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr22:33445000-33446600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr22:33445000-33451600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr22:33445200-33445400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr22:33445200-33445800	Enhancers	Brain Germinal Matrix	brain
20	chr22:33445200-33446000	Enhancers	iPS-20b Cell Line	embryonic stem cell

Quick Search: