Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:205317459..205320428-chr2:205333008..205336253,3	K562	blood:
2	chr2:205318766..205320712-chr2:205322486..205325283,3	K562	blood:
3	chr2:205317299..205320276-chr2:205333008..205336367,3	K562	blood:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10084416	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10490267	0.85[ASN][1000 genomes]
rs10932063	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1156249	0.94[ASN][1000 genomes]
rs11690070	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12472876	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12990859	0.82[ASN][1000 genomes]
rs13010221	0.88[ASN][1000 genomes]
rs13024043	0.94[ASN][1000 genomes]
rs1374708	0.92[ASN][1000 genomes]
rs1374709	0.85[ASN][1000 genomes]
rs1447488	0.98[ASN][1000 genomes]
rs1447490	0.87[ASN][1000 genomes]
rs1447493	0.87[ASN][1000 genomes]
rs1447495	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17637637	0.87[ASN][1000 genomes]
rs34157021	0.85[ASN][1000 genomes]
rs34368384	0.90[ASN][1000 genomes]
rs34816339	0.81[ASN][1000 genomes]
rs35071164	0.85[ASN][1000 genomes]
rs35207649	0.82[ASN][1000 genomes]
rs4675457	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6704883	0.81[AFR][1000 genomes]
rs71427747	0.90[ASN][1000 genomes]
rs7557903	0.82[AFR][1000 genomes]
rs7602656	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs959032	0.87[ASN][1000 genomes]
rs959033	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv34706	chr2:205309211-205348724	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205316600-205320200	Enhancers	Fetal Brain Male	brain
2	chr2:205316600-205320400	Enhancers	Fetal Intestine Small	intestine
3	chr2:205316800-205320200	Enhancers	Fetal Muscle Leg	muscle
4	chr2:205317400-205320200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:205319000-205320400	Enhancers	Colon Smooth Muscle	Colon
6	chr2:205319000-205321000	Weak transcription	Aorta	Aorta
7	chr2:205320000-205323200	Weak transcription	Lung	lung

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