Variant report

Variant	rs2449319
Chromosome Location	chr1:225119558-225119559
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225118656..225120791-chr1:225120817..225122470,2	K562	blood:
2	chr1:225119003..225120746-chr1:225122614..225125497,2	MCF-7	breast:
3	chr1:225118805..225120326-chr1:225154882..225156859,2	K562	blood:

Variant related genes	Relation type
ENSG00000185842	Chromatin interaction

Extended variants
information (count: 218 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:215)

rs_ID	r²[population]
rs10399959	1.00[EUR][1000 genomes]
rs10495232	1.00[EUR][1000 genomes]
rs1078794	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10915724	1.00[EUR][1000 genomes]
rs10915732	1.00[EUR][1000 genomes]
rs11805350	1.00[EUR][1000 genomes]
rs12059834	1.00[EUR][1000 genomes]
rs12061265	1.00[EUR][1000 genomes]
rs12066443	1.00[EUR][1000 genomes]
rs12069808	1.00[EUR][1000 genomes]
rs12071270	1.00[EUR][1000 genomes]
rs12071776	1.00[EUR][1000 genomes]
rs12074382	1.00[EUR][1000 genomes]
rs12075769	1.00[EUR][1000 genomes]
rs12079808	1.00[EUR][1000 genomes]
rs12080062	1.00[EUR][1000 genomes]
rs12086473	1.00[EUR][1000 genomes]
rs12086802	1.00[EUR][1000 genomes]
rs12097593	1.00[EUR][1000 genomes]
rs12239937	1.00[EUR][1000 genomes]
rs13376360	1.00[EUR][1000 genomes]
rs1395115	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1480102	1.00[EUR][1000 genomes]
rs1580956	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16844321	1.00[EUR][1000 genomes]
rs16844324	1.00[EUR][1000 genomes]
rs16844328	1.00[EUR][1000 genomes]
rs16844331	1.00[EUR][1000 genomes]
rs16844347	1.00[EUR][1000 genomes]
rs16844357	1.00[EUR][1000 genomes]
rs16854034	1.00[EUR][1000 genomes]
rs16854471	1.00[EUR][1000 genomes]
rs16855953	1.00[EUR][1000 genomes]
rs16856828	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2060556	1.00[EUR][1000 genomes]
rs2127558	1.00[EUR][1000 genomes]
rs2244108	1.00[EUR][1000 genomes]
rs2244109	1.00[EUR][1000 genomes]
rs2244198	1.00[EUR][1000 genomes]
rs2245097	1.00[EUR][1000 genomes]
rs2254430	1.00[EUR][1000 genomes]
rs2449262	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449264	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449265	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449267	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449268	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449270	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449271	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449275	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449277	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449278	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449279	1.00[EUR][1000 genomes]
rs2449283	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449284	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449286	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449288	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449290	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449294	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449302	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2449305	1.00[EUR][1000 genomes]
rs2449306	1.00[EUR][1000 genomes]
rs2449309	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449312	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449314	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449317	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449320	0.83[AFR][1000 genomes]
rs2449321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2456338	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2456343	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2456344	1.00[EUR][1000 genomes]
rs2456346	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2456350	1.00[EUR][1000 genomes]
rs2456352	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2456354	1.00[EUR][1000 genomes]
rs2489299	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489305	1.00[EUR][1000 genomes]
rs2489307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489315	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489316	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489317	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489318	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489319	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489321	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489326	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489329	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489331	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489333	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489334	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489335	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489336	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489339	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489340	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489342	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489345	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489347	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489349	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489350	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489351	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489354	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489356	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489359	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2489360	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501064	0.81[AFR][1000 genomes]
rs2501065	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501066	0.81[AFR][1000 genomes]
rs2501067	0.88[AFR][1000 genomes]
rs2501069	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2501072	0.85[AFR][1000 genomes]
rs2501073	0.84[AFR][1000 genomes]
rs2501074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501080	0.91[AMR][1000 genomes]
rs2501088	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501103	1.00[EUR][1000 genomes]
rs2501104	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501112	1.00[EUR][1000 genomes]
rs2501113	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501117	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501121	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501122	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2501124	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501128	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501136	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501137	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501140	0.81[AFR][1000 genomes]
rs2501141	0.81[AFR][1000 genomes]
rs2501142	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501144	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501148	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501152	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501156	0.81[AFR][1000 genomes]
rs2501157	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2516334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2662910	1.00[EUR][1000 genomes]
rs2662911	1.00[EUR][1000 genomes]
rs2662913	1.00[EUR][1000 genomes]
rs2802546	1.00[EUR][1000 genomes]
rs2802547	1.00[EUR][1000 genomes]
rs2802567	1.00[EUR][1000 genomes]
rs2802736	1.00[EUR][1000 genomes]
rs28789844	1.00[EUR][1000 genomes]
rs28871966	1.00[EUR][1000 genomes]
rs2929627	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2929629	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2929632	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3102105	1.00[EUR][1000 genomes]
rs3128647	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs3991375	1.00[EUR][1000 genomes]
rs4121159	1.00[EUR][1000 genomes]
rs4256778	1.00[EUR][1000 genomes]
rs4275419	1.00[EUR][1000 genomes]
rs4475714	1.00[EUR][1000 genomes]
rs4639722	1.00[EUR][1000 genomes]
rs57535083	1.00[EUR][1000 genomes]
rs58205526	1.00[EUR][1000 genomes]
rs58355180	1.00[EUR][1000 genomes]
rs58651151	1.00[EUR][1000 genomes]
rs58823550	1.00[EUR][1000 genomes]
rs59730608	1.00[EUR][1000 genomes]
rs59730777	1.00[EUR][1000 genomes]
rs59839860	1.00[EUR][1000 genomes]
rs60428528	1.00[EUR][1000 genomes]
rs60434067	1.00[EUR][1000 genomes]
rs60727542	1.00[EUR][1000 genomes]
rs61269802	1.00[EUR][1000 genomes]
rs61329501	1.00[EUR][1000 genomes]
rs61483735	1.00[EUR][1000 genomes]
rs6426164	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6656178	1.00[EUR][1000 genomes]
rs6666664	1.00[EUR][1000 genomes]
rs6670335	1.00[EUR][1000 genomes]
rs6673779	1.00[EUR][1000 genomes]
rs6680659	1.00[EUR][1000 genomes]
rs6683197	1.00[EUR][1000 genomes]
rs6689608	1.00[EUR][1000 genomes]
rs6693680	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6694400	1.00[EUR][1000 genomes]
rs6698293	1.00[EUR][1000 genomes]
rs6698942	1.00[EUR][1000 genomes]
rs73129804	1.00[EUR][1000 genomes]
rs7418261	1.00[EUR][1000 genomes]
rs7515136	1.00[EUR][1000 genomes]
rs7523371	1.00[EUR][1000 genomes]
rs7524227	1.00[EUR][1000 genomes]
rs7525497	1.00[EUR][1000 genomes]
rs7526764	1.00[EUR][1000 genomes]
rs7533311	1.00[EUR][1000 genomes]
rs7533415	1.00[EUR][1000 genomes]
rs7535962	1.00[EUR][1000 genomes]
rs7537947	1.00[EUR][1000 genomes]
rs7544960	1.00[EUR][1000 genomes]
rs7550589	1.00[EUR][1000 genomes]
rs7555397	1.00[EUR][1000 genomes]
rs769297	1.00[EUR][1000 genomes]
rs9286991	1.00[EUR][1000 genomes]
rs9426101	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9426103	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9426104	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9426147	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9426149	0.89[AFR][1000 genomes]
rs9426156	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9426159	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9660934	1.00[EUR][1000 genomes]
rs9725252	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	esv2757773	chr1:225087924-225253274	Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv2759001	chr1:225087924-225253274	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1005824	chr1:225114654-225158871	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225118200-225119800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:225118400-225120000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:225118400-225133400	Weak transcription	Pancreas	Pancrea
4	chr1:225119000-225123000	ZNF genes & repeats	K562	blood
5	chr1:225119200-225123400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:225119400-225120600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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