Variant report

Variant	rs2116515
Chromosome Location	chr1:174752995-174752996
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:174743787..174746424-chr1:174752563..174755000,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10912809	1.00[EUR][1000 genomes]
rs10912815	1.00[EUR][1000 genomes]
rs10912816	1.00[EUR][1000 genomes]
rs10912818	1.00[EUR][1000 genomes]
rs10912819	1.00[EUR][1000 genomes]
rs10912847	1.00[EUR][1000 genomes]
rs10912851	1.00[EUR][1000 genomes]
rs10912858	1.00[EUR][1000 genomes]
rs10912864	1.00[EUR][1000 genomes]
rs11806870	1.00[EUR][1000 genomes]
rs12057161	1.00[EUR][1000 genomes]
rs12057359	1.00[EUR][1000 genomes]
rs12066268	1.00[EUR][1000 genomes]
rs12066421	1.00[EUR][1000 genomes]
rs12067791	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12068625	1.00[EUR][1000 genomes]
rs12069689	1.00[EUR][1000 genomes]
rs12070082	1.00[EUR][1000 genomes]
rs12072909	1.00[EUR][1000 genomes]
rs12075193	1.00[EUR][1000 genomes]
rs12077283	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12077880	1.00[EUR][1000 genomes]
rs12078714	1.00[EUR][1000 genomes]
rs12080070	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12080242	1.00[EUR][1000 genomes]
rs12084999	1.00[EUR][1000 genomes]
rs12088650	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12096717	1.00[EUR][1000 genomes]
rs1231828	1.00[EUR][1000 genomes]
rs1329280	1.00[EUR][1000 genomes]
rs1612104	1.00[EUR][1000 genomes]
rs1618234	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1653631	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1653633	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1653637	1.00[EUR][1000 genomes]
rs16847457	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs173000	1.00[EUR][1000 genomes]
rs1754356	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1754358	0.91[AFR][1000 genomes]
rs17838246	1.00[EUR][1000 genomes]
rs189141	1.00[EUR][1000 genomes]
rs2760059	1.00[EUR][1000 genomes]
rs2981891	1.00[EUR][1000 genomes]
rs2981895	1.00[EUR][1000 genomes]
rs2987871	1.00[EUR][1000 genomes]
rs2987878	1.00[EUR][1000 genomes]
rs3123641	1.00[EUR][1000 genomes]
rs332766	1.00[EUR][1000 genomes]
rs332775	1.00[EUR][1000 genomes]
rs332780	1.00[EUR][1000 genomes]
rs332785	1.00[EUR][1000 genomes]
rs332790	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs332792	1.00[EUR][1000 genomes]
rs333419	1.00[EUR][1000 genomes]
rs333425	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs333434	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35582650	1.00[EUR][1000 genomes]
rs392368	1.00[EUR][1000 genomes]
rs4290116	1.00[EUR][1000 genomes]
rs4309037	1.00[EUR][1000 genomes]
rs55659406	1.00[EUR][1000 genomes]
rs56106555	1.00[EUR][1000 genomes]
rs56357087	1.00[EUR][1000 genomes]
rs58238388	1.00[EUR][1000 genomes]
rs59073370	1.00[EUR][1000 genomes]
rs60283543	1.00[EUR][1000 genomes]
rs6672781	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6696432	1.00[EUR][1000 genomes]
rs6701696	1.00[EUR][1000 genomes]
rs74126848	1.00[EUR][1000 genomes]
rs74126851	1.00[EUR][1000 genomes]
rs74126855	1.00[EUR][1000 genomes]
rs74128516	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014637	chr1:174265631-174826765	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv535208	chr1:174265631-174826765	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv548198	chr1:174731596-174800872	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174745000-174756800	Weak transcription	HSMMtube	muscle
2	chr1:174747000-174768400	Weak transcription	Primary B cells from cord blood	blood
3	chr1:174749200-174753200	Weak transcription	Fetal Kidney	kidney
4	chr1:174751000-174753800	Weak transcription	Ovary	ovary
5	chr1:174752000-174757800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:174752400-174760800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:174752400-174764000	Weak transcription	Fetal Intestine Small	intestine
8	chr1:174752400-174764200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:174752600-174754800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:174752600-174757000	Weak transcription	K562	blood

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