Variant report

Variant	rs11171622
Chromosome Location	chr12:56025591-56025592
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:56019963..56023291-chr12:56024390..56027255,3	K562	blood:
2	chr12:56018414..56023291-chr12:56023522..56027255,6	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10161247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10876831	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11171612	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11171617	0.91[ASN][1000 genomes]
rs11171618	0.91[ASN][1000 genomes]
rs11171619	0.91[ASN][1000 genomes]
rs11171620	0.91[ASN][1000 genomes]
rs11171621	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11171643	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11171645	1.00[EUR][1000 genomes]
rs12299176	1.00[EUR][1000 genomes]
rs12301775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12303548	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs12305769	1.00[EUR][1000 genomes]
rs12306327	1.00[EUR][1000 genomes]
rs12307395	0.91[ASN][1000 genomes]
rs12308737	0.91[ASN][1000 genomes]
rs12310127	0.91[ASN][1000 genomes]
rs12310130	0.91[ASN][1000 genomes]
rs12313844	1.00[EUR][1000 genomes]
rs12313935	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]
rs12314499	0.91[ASN][1000 genomes]
rs12314803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12315025	0.91[ASN][1000 genomes]
rs12578161	1.00[EUR][1000 genomes]
rs12580355	1.00[EUR][1000 genomes]
rs17117814	0.91[ASN][1000 genomes]
rs17120033	1.00[EUR][1000 genomes]
rs17120045	1.00[EUR][1000 genomes]
rs36194114	1.00[EUR][1000 genomes]
rs4268543	0.91[ASN][1000 genomes]
rs4545598	0.91[ASN][1000 genomes]
rs59430466	0.91[ASN][1000 genomes]
rs73329943	0.91[ASN][1000 genomes]
rs73329946	0.91[ASN][1000 genomes]
rs7973424	1.00[EUR][1000 genomes];0.91[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	nsv559001	chr12:55507465-56057708	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv948625	chr12:55838718-56118833	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56017000-56026000	Weak transcription	Right Atrium	heart
2	chr12:56023200-56036800	Weak transcription	Spleen	Spleen
3	chr12:56024800-56025800	Enhancers	Fetal Heart	heart
4	chr12:56025000-56026000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:56025000-56026600	Enhancers	Left Ventricle	heart
6	chr12:56025200-56025800	Enhancers	Right Ventricle	heart
7	chr12:56025400-56025800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr12:56025400-56025800	Enhancers	Lung	lung
9	chr12:56025400-56027200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr12:56025400-56027600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr12:56025400-56027800	Enhancers	Monocytes-CD14+_RO01746	blood

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