Variant report

Variant	rs7574599
Chromosome Location	chr2:179829531-179829532
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10169992	0.85[EUR][1000 genomes]
rs10171173	0.96[CEU][hapmap];0.86[GIH][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs10497528	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930845	0.86[EUR][1000 genomes]
rs10930847	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11681839	0.83[EUR][1000 genomes]
rs11694943	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13403584	0.89[EUR][1000 genomes]
rs16866583	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1847420	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2200826	0.90[EUR][1000 genomes]
rs4894072	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6715920	0.89[EUR][1000 genomes]
rs6727743	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6747725	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs924800	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv875455	chr2:179732845-179909467	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv583756	chr2:179758007-179843612	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1000545	chr2:179768359-179843612	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv875456	chr2:179775893-179896787	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv875457	chr2:179775893-179966804	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv875458	chr2:179780624-179966804	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1011538	chr2:179803786-179862194	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179770000-179848200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr2:179804000-179831600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:179806800-179843600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr2:179812600-179839000	Weak transcription	HSMMtube	muscle
5	chr2:179816600-179841200	Weak transcription	Right Ventricle	heart
6	chr2:179826200-179830600	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:179826800-179839200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:179827800-179829600	Genic enhancers	Fetal Heart	heart
9	chr2:179827800-179830000	Weak transcription	Left Ventricle	heart
10	chr2:179828200-179845200	Weak transcription	Primary T cells from cord blood	blood
11	chr2:179828600-179829600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:179829000-179829600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:179829400-179838000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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