Variant report

Variant	rs2449267
Chromosome Location	chr1:225109913-225109914
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225108934..225110730-chr1:225115605..225118111,2	K562	blood:
2	chr1:225109346..225111069-chr1:225117045..225118611,2	MCF-7	breast:
3	chr1:224831768..224834375-chr1:225108469..225110982,2	K562	blood:
4	chr1:224701102..224702030-chr1:225109484..225110930,7	K562	blood:
5	chr1:225040496..225041292-chr1:225109773..225110403,3	MCF-7	breast:
6	chr1:225102785..225104962-chr1:225108843..225110479,2	K562	blood:
7	chr1:224831986..224832789-chr1:225109802..225110521,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143786	Chromatin interaction
ENSG00000185842	Chromatin interaction

Extended variants
information (count: 213 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:211)

rs_ID	r²[population]
rs10399959	1.00[EUR][1000 genomes]
rs1078794	0.92[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap];0.96[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]
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]
rs1506072	0.88[LWK][hapmap];0.87[MKK][hapmap]
rs1580956	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16854034	1.00[MEX][hapmap];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]
rs2128270	0.88[LWK][hapmap];0.87[MKK][hapmap]
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]
rs2449259	0.86[ASW][hapmap];0.90[LWK][hapmap];0.94[MKK][hapmap]
rs2449262	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449268	0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449271	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449272	0.92[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449275	0.92[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449277	0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449278	0.96[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449279	1.00[EUR][1000 genomes]
rs2449283	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449284	0.84[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]
rs2449292	0.86[ASW][hapmap];0.90[LWK][hapmap];0.94[MKK][hapmap]
rs2449294	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449302	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]
rs2449311	0.86[ASW][hapmap];0.90[LWK][hapmap];0.94[MKK][hapmap]
rs2449312	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449313	0.85[LWK][hapmap];0.95[MKK][hapmap]
rs2449314	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449317	0.92[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449319	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449320	0.81[AFR][1000 genomes]
rs2449321	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449323	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449324	0.92[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2456338	0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2456343	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2456344	1.00[EUR][1000 genomes]
rs2456346	0.80[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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489305	1.00[EUR][1000 genomes]
rs2489307	0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489309	0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489315	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489317	0.96[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489318	0.96[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489319	0.96[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489321	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489323	0.88[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489324	0.88[LWK][hapmap];0.87[MKK][hapmap]
rs2489326	0.81[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	0.82[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	0.82[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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489339	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489340	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489342	0.92[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489345	0.92[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489347	0.88[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489349	0.88[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489350	0.92[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489351	0.96[YRI][hapmap];0.92[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	0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489358	0.92[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap];0.98[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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501061	0.86[ASW][hapmap];0.89[LWK][hapmap];0.94[MKK][hapmap]
rs2501064	0.86[ASW][hapmap];0.90[LWK][hapmap];0.94[MKK][hapmap]
rs2501065	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501066	0.86[ASW][hapmap];0.88[LWK][hapmap];0.94[MKK][hapmap]
rs2501067	0.86[AFR][1000 genomes]
rs2501069	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2501072	0.86[ASW][hapmap];0.90[LWK][hapmap];0.94[MKK][hapmap];0.84[AFR][1000 genomes]
rs2501073	0.82[AFR][1000 genomes]
rs2501074	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501076	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501077	0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501079	0.91[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501080	0.91[AMR][1000 genomes]
rs2501088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501103	1.00[EUR][1000 genomes]
rs2501104	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501112	1.00[EUR][1000 genomes]
rs2501113	0.92[ASW][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501117	0.95[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501121	0.92[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501122	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2501124	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501128	0.96[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501130	0.90[LWK][hapmap];0.94[MKK][hapmap]
rs2501136	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501137	0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501142	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501144	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501148	0.88[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	0.94[MKK][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501157	0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2516334	0.94[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.89[YRI][hapmap];0.98[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	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2929629	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2929632	0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3102105	1.00[EUR][1000 genomes]
rs3128647	0.80[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	1.00[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]
rs9286991	1.00[EUR][1000 genomes]
rs9426101	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9426103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9426104	1.00[EUR][1000 genomes]
rs9426147	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9426149	0.88[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:2 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225102400-225110000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:225107400-225110000	Weak transcription	Dnd41	blood
3	chr1:225107600-225110000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:225108600-225110000	Weak transcription	Pancreas	Pancrea
5	chr1:225108800-225110200	Enhancers	Stomach Mucosa	stomach
6	chr1:225108800-225110400	Enhancers	Fetal Intestine Small	intestine
7	chr1:225109000-225110400	Enhancers	Fetal Intestine Large	intestine
8	chr1:225109200-225110000	Weak transcription	Gastric	stomach
9	chr1:225109800-225110800	Enhancers	Liver	Liver

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