Variant report

Variant	rs57398906
Chromosome Location	chr2:190171753-190171754
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 208 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:205)

rs_ID	r²[population]
rs10153543	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10153951	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10166669	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10166763	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10168736	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10169952	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10170085	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171824	0.84[AMR][1000 genomes]
rs10172337	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10174122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10174725	1.00[ASN][1000 genomes]
rs10174952	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10177339	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10177917	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10178328	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10178743	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10178969	0.84[AMR][1000 genomes]
rs10179002	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10179972	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10181872	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10182328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182531	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10184389	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10185003	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10185694	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10186436	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10187336	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10187808	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187975	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10188565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189469	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10190096	1.00[ASN][1000 genomes]
rs10191409	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10191847	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10193669	0.84[AMR][1000 genomes]
rs10193984	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10194834	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10194934	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10196323	0.84[AMR][1000 genomes]
rs10196675	0.84[AMR][1000 genomes]
rs10196977	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10198744	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10200629	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10201372	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10201772	0.89[AMR][1000 genomes]
rs10201984	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10202436	1.00[ASN][1000 genomes]
rs10202723	1.00[ASN][1000 genomes]
rs10202780	0.84[AMR][1000 genomes]
rs10202907	0.84[AMR][1000 genomes]
rs10203516	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10203719	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10204110	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10204767	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10205215	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10205775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10206086	0.84[AMR][1000 genomes]
rs10206562	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10207004	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10208917	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10209758	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10221749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10221861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10439311	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10439312	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10469647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10469738	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10469740	0.92[EUR][1000 genomes]
rs10931412	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10931413	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12328504	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12328515	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12328914	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13383723	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13387876	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13387877	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13388039	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13388779	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13389403	0.84[AMR][1000 genomes]
rs13391841	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13391984	0.84[AMR][1000 genomes]
rs13392896	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13394718	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13396640	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13396910	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13396980	0.84[AMR][1000 genomes]
rs13400624	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13402678	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13402923	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13405157	0.84[AMR][1000 genomes]
rs13405433	1.00[ASN][1000 genomes]
rs13407353	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13407452	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13407566	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13409397	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13413979	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13414763	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13418443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13419269	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13419984	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13420832	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13421370	1.00[ASN][1000 genomes]
rs13423429	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13423654	1.00[AFR][1000 genomes];1.00[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];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13425989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13426851	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13427051	0.84[AMR][1000 genomes]
rs13427092	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13427686	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13427692	0.89[AMR][1000 genomes]
rs13430496	0.89[AMR][1000 genomes]
rs13430671	0.84[AMR][1000 genomes]
rs13430879	0.84[AMR][1000 genomes]
rs13430915	0.84[AMR][1000 genomes]
rs13432036	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13432963	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28368169	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28414300	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28433254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28509172	0.89[AMR][1000 genomes]
rs28545536	1.00[ASN][1000 genomes]
rs28567040	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28627748	0.84[AMR][1000 genomes]
rs28679474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28760459	0.89[AMR][1000 genomes]
rs35852101	1.00[ASN][1000 genomes]
rs55808493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55819631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56900526	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56996340	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57187765	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57215654	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57458325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57525746	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57598703	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58258584	1.00[ASN][1000 genomes]
rs58396131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59506401	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59826931	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59872509	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60056080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60341298	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60708586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60863981	1.00[ASN][1000 genomes]
rs61154892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61625679	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717036	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6724634	1.00[ASN][1000 genomes]
rs6725458	0.84[AMR][1000 genomes]
rs6725599	0.84[AMR][1000 genomes]
rs6737615	0.84[AMR][1000 genomes]
rs6740723	0.84[AMR][1000 genomes]
rs6746050	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6754272	0.84[AMR][1000 genomes]
rs7355598	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73978603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73978605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980173	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980174	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980175	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980177	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980180	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980182	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980183	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980187	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980188	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980190	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980191	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980192	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980193	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980194	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980195	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980196	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980197	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980198	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980199	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980201	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980202	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73982004	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73982007	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73982032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73982033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73982034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73982037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558500	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7561643	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7562592	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7566271	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7569974	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7572416	0.84[AMR][1000 genomes]
rs7584984	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7586032	0.84[AMR][1000 genomes]
rs7599676	1.00[ASN][1000 genomes]
rs7609327	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9288164	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9808058	0.89[AMR][1000 genomes];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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190163000-190171800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr2:190166200-190171800	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr2:190168400-190176200	Weak transcription	Pancreas	Pancrea
4	chr2:190169800-190174000	Weak transcription	Dnd41	blood
5	chr2:190170200-190176400	Weak transcription	Fetal Thymus	thymus
6	chr2:190170400-190173600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr2:190171000-190171800	Enhancers	HSMMtube	muscle
8	chr2:190171000-190174200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr2:190171200-190171800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:190171200-190171800	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr2:190171200-190171800	Enhancers	HepG2	liver
12	chr2:190171200-190172800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:190171200-190176200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr2:190171400-190172600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:190171400-190173600	Weak transcription	Stomach Mucosa	stomach
16	chr2:190171400-190176200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr2:190171600-190172200	Weak transcription	Fetal Intestine Large	intestine
18	chr2:190171600-190172200	Weak transcription	Fetal Intestine Small	intestine
19	chr2:190171600-190172800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:190171600-190174000	Weak transcription	Primary T cells from cord blood	blood

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