Variant report

Variant	rs28567040
Chromosome Location	chr2:190152164-190152165
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190007524..190008539-chr2:190152002..190153324,12	MCF-7	breast:
2	chr2:190008421..190011287-chr2:190151088..190152689,2	MCF-7	breast:
3	chr2:190007040..190008928-chr2:190150245..190153733,35	MCF-7	breast:
4	chr2:190086588..190088332-chr2:190150217..190152218,2	MCF-7	breast:
5	chr2:189979578..189980595-chr2:190151937..190153269,5	MCF-7	breast:
6	chr2:190088767..190093088-chr2:190148429..190152827,7	MCF-7	breast:

Extended variants
information (count: 186 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:183)

rs_ID	r²[population]
rs10153543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10153951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10166669	1.00[ASN][1000 genomes]
rs10166763	1.00[ASN][1000 genomes]
rs10168736	1.00[ASN][1000 genomes]
rs10169952	1.00[ASN][1000 genomes]
rs10170085	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10172337	1.00[ASN][1000 genomes]
rs10174122	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10174725	1.00[ASN][1000 genomes]
rs10174952	1.00[ASN][1000 genomes]
rs10177339	1.00[ASN][1000 genomes]
rs10177917	1.00[ASN][1000 genomes]
rs10178328	1.00[ASN][1000 genomes]
rs10178743	1.00[ASN][1000 genomes]
rs10179002	1.00[ASN][1000 genomes]
rs10179972	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10181872	1.00[ASN][1000 genomes]
rs10182328	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182531	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182637	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10184389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10185003	1.00[ASN][1000 genomes]
rs10185694	1.00[ASN][1000 genomes]
rs10186436	1.00[ASN][1000 genomes]
rs10187336	1.00[ASN][1000 genomes]
rs10187808	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187975	1.00[ASN][1000 genomes]
rs10188565	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189469	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10190096	1.00[ASN][1000 genomes]
rs10191409	1.00[ASN][1000 genomes]
rs10191847	1.00[ASN][1000 genomes]
rs10193984	1.00[ASN][1000 genomes]
rs10194834	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10194934	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10196977	1.00[ASN][1000 genomes]
rs10198744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10200629	1.00[ASN][1000 genomes]
rs10201372	1.00[ASN][1000 genomes]
rs10201984	1.00[ASN][1000 genomes]
rs10202436	1.00[ASN][1000 genomes]
rs10202723	1.00[ASN][1000 genomes]
rs10203516	1.00[ASN][1000 genomes]
rs10203719	1.00[ASN][1000 genomes]
rs10204110	1.00[ASN][1000 genomes]
rs10204767	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10205215	1.00[ASN][1000 genomes]
rs10205775	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10206562	1.00[ASN][1000 genomes]
rs10207004	1.00[ASN][1000 genomes]
rs10208917	1.00[ASN][1000 genomes]
rs10209758	1.00[ASN][1000 genomes]
rs10221749	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10221861	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10439311	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10439312	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10469647	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10469738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10469740	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10931412	1.00[ASN][1000 genomes]
rs10931413	1.00[ASN][1000 genomes]
rs12328504	1.00[ASN][1000 genomes]
rs12328515	1.00[ASN][1000 genomes]
rs12328914	1.00[ASN][1000 genomes]
rs13383723	1.00[ASN][1000 genomes]
rs13387876	1.00[ASN][1000 genomes]
rs13387877	1.00[ASN][1000 genomes]
rs13388039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13388779	1.00[ASN][1000 genomes]
rs13391841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13392896	1.00[ASN][1000 genomes]
rs13394718	1.00[ASN][1000 genomes]
rs13396640	1.00[ASN][1000 genomes]
rs13396910	1.00[ASN][1000 genomes]
rs13400624	1.00[ASN][1000 genomes]
rs13402678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13402923	1.00[ASN][1000 genomes]
rs13405433	1.00[ASN][1000 genomes]
rs13407353	1.00[ASN][1000 genomes]
rs13407452	1.00[ASN][1000 genomes]
rs13407566	1.00[ASN][1000 genomes]
rs13409397	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13409960	0.90[AMR][1000 genomes]
rs13413979	1.00[ASN][1000 genomes]
rs13414763	1.00[ASN][1000 genomes]
rs13418443	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13419269	1.00[ASN][1000 genomes]
rs13419984	1.00[ASN][1000 genomes]
rs13420832	1.00[ASN][1000 genomes]
rs13421370	1.00[ASN][1000 genomes]
rs13423429	1.00[ASN][1000 genomes]
rs13423654	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13424586	1.00[ASN][1000 genomes]
rs13425539	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13425989	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13426851	1.00[ASN][1000 genomes]
rs13427092	1.00[ASN][1000 genomes]
rs13427686	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13432036	1.00[ASN][1000 genomes]
rs13432963	1.00[ASN][1000 genomes]
rs28368169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28414300	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28433254	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28545536	1.00[ASN][1000 genomes]
rs28679474	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35852101	1.00[ASN][1000 genomes]
rs55808493	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55819631	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56063417	1.00[ASN][1000 genomes]
rs56900526	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56996340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57187765	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57215654	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57398906	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57458325	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57525746	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57598703	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58258584	1.00[ASN][1000 genomes]
rs58396131	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59506401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59826931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59872509	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60056080	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60341298	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60708586	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60863981	1.00[ASN][1000 genomes]
rs61154892	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61625679	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717036	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6724634	1.00[ASN][1000 genomes]
rs6746050	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7355598	1.00[ASN][1000 genomes]
rs73978603	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73978605	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73978809	1.00[ASN][1000 genomes]
rs73978810	1.00[ASN][1000 genomes]
rs73978811	1.00[ASN][1000 genomes]
rs73978812	1.00[ASN][1000 genomes]
rs73978820	1.00[ASN][1000 genomes]
rs73978832	1.00[ASN][1000 genomes]
rs73978835	1.00[ASN][1000 genomes]
rs73978855	1.00[ASN][1000 genomes]
rs73978885	1.00[ASN][1000 genomes]
rs73980135	1.00[ASN][1000 genomes]
rs73980165	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980173	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980174	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980175	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980177	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980180	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980182	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980183	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980187	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980188	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980190	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980191	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980192	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980193	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980194	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980195	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980196	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980197	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980198	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980199	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980201	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980202	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73982004	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73982007	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73982032	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73982033	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73982034	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73982037	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558500	1.00[ASN][1000 genomes]
rs7561643	1.00[ASN][1000 genomes]
rs7562592	1.00[ASN][1000 genomes]
rs7566271	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7569974	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7584984	1.00[ASN][1000 genomes]
rs7599676	1.00[ASN][1000 genomes]
rs7609327	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9288164	1.00[ASN][1000 genomes]
rs9808058	1.00[ASN][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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv875614	chr2:190110841-190254758	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190149200-190153800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:190149400-190152400	Enhancers	Hela-S3	cervix
3	chr2:190149400-190153400	Enhancers	NHDF-Ad	bronchial
4	chr2:190149400-190153600	Enhancers	NH-A	brain
5	chr2:190149400-190153600	Enhancers	NHLF	lung
6	chr2:190149600-190153200	Enhancers	HSMM	muscle
7	chr2:190149600-190153400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:190149800-190153200	Enhancers	Rectal Smooth Muscle	rectum
9	chr2:190150000-190152400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:190150000-190153000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:190150200-190153400	Enhancers	HSMMtube	muscle
12	chr2:190150400-190152400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:190150600-190152400	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:190150600-190152400	Enhancers	HMEC	breast
15	chr2:190150800-190158200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:190151000-190152400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:190151000-190153200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:190151000-190153600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:190151200-190152200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:190151200-190152200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:190151200-190152400	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr2:190151200-190153400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:190151400-190152200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:190151400-190152800	Enhancers	Osteobl	bone
25	chr2:190151400-190153000	Enhancers	A549	lung
26	chr2:190151400-190153000	Weak transcription	NHEK	skin
27	chr2:190151400-190153600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:190152000-190152200	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr2:190152000-190152600	Enhancers	HUVEC	blood vessel
30	chr2:190152000-190153200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr2:190152000-190153400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:190152000-190154000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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