Variant report

Variant	rs17018717
Chromosome Location	chr1:212374973-212374974
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	chr1:212373334..212376163-chr1:212376843..212378983,2	K562	blood:
2	chr1:212374422..212376046-chr1:212392215..212393758,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11800208	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11801902	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11803526	1.00[EUR][1000 genomes]
rs17018697	1.00[EUR][1000 genomes]
rs17018767	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17018784	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17018792	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1873299	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1908141	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4369290	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55764484	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56410034	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57461449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58031667	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58388470	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59665922	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59988047	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61331273	1.00[EUR][1000 genomes]
rs6676652	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6687793	1.00[EUR][1000 genomes]
rs6701982	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73078491	1.00[EUR][1000 genomes]
rs73078499	1.00[EUR][1000 genomes]
rs73078504	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73078520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73078526	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73078531	1.00[EUR][1000 genomes]
rs73078536	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73080522	0.81[AMR][1000 genomes]
rs74138110	1.00[AMR][1000 genomes]
rs7515005	1.00[EUR][1000 genomes]
rs7530958	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7533954	1.00[EUR][1000 genomes]
rs7534621	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7536393	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7536704	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7537172	1.00[EUR][1000 genomes]
rs7538315	1.00[EUR][1000 genomes]
rs884208	0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212368800-212391000	Weak transcription	Thymus	Thymus
2	chr1:212369000-212376000	Weak transcription	Lung	lung
3	chr1:212370000-212375800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:212370800-212376000	Weak transcription	Fetal Thymus	thymus
5	chr1:212371200-212376000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:212374600-212375000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr1:212374600-212376200	Enhancers	HUVEC	blood vessel
8	chr1:212374800-212375200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:212374800-212376000	Weak transcription	Fetal Lung	lung

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