Variant report

Variant	rs10931222
Chromosome Location	chr2:186945624-186945625
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:186943617..186946004-chr2:186946269..186949362,3	K562	blood:

Variant related genes	Relation type
ENSG00000237877	Chromatin interaction

Extended variants
information (count: 171 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:150)

rs_ID	r²[population]
rs10153530	0.83[ASN][1000 genomes]
rs10165461	0.99[ASN][1000 genomes]
rs10172564	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10174177	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10175720	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10175815	0.81[ASN][1000 genomes]
rs10177182	0.94[ASN][1000 genomes]
rs10181229	0.94[ASN][1000 genomes]
rs10184559	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10186776	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs10187040	0.89[ASN][1000 genomes]
rs10189482	0.94[ASN][1000 genomes]
rs10189763	0.89[ASN][1000 genomes]
rs10189831	0.90[ASN][1000 genomes]
rs10189845	0.90[ASN][1000 genomes]
rs10189985	0.89[ASN][1000 genomes]
rs10190713	0.92[ASN][1000 genomes]
rs10193227	0.83[ASN][1000 genomes]
rs10193729	0.86[JPT][hapmap]
rs10197403	0.91[ASN][1000 genomes]
rs10200077	0.94[ASN][1000 genomes]
rs10200354	0.92[ASN][1000 genomes]
rs10202553	0.90[ASN][1000 genomes]
rs10205061	0.90[ASN][1000 genomes]
rs10205148	0.87[ASN][1000 genomes]
rs10205245	0.90[ASN][1000 genomes]
rs10205253	0.90[ASN][1000 genomes]
rs10931218	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10931223	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12327903	0.82[ASN][1000 genomes]
rs12327910	0.82[ASN][1000 genomes]
rs12328007	0.91[ASN][1000 genomes]
rs12328015	0.91[ASN][1000 genomes]
rs12373738	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12373744	0.89[ASN][1000 genomes]
rs12614513	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12615692	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12615770	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12617754	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12621910	0.99[ASN][1000 genomes]
rs12622503	0.99[ASN][1000 genomes]
rs12693431	0.94[ASN][1000 genomes]
rs12693432	0.92[ASN][1000 genomes]
rs12693434	0.92[ASN][1000 genomes]
rs12693436	0.88[ASN][1000 genomes]
rs12693437	0.89[ASN][1000 genomes]
rs12988403	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12990062	0.99[ASN][1000 genomes]
rs12994334	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12994860	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12998383	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12999474	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12999989	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13003934	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13005466	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13014905	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13019653	0.94[ASN][1000 genomes]
rs13022305	0.89[ASN][1000 genomes]
rs13028175	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13383010	0.89[ASN][1000 genomes]
rs13383401	0.90[ASN][1000 genomes]
rs13388196	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13389991	0.82[ASN][1000 genomes]
rs13394129	0.84[ASN][1000 genomes]
rs13403908	0.89[ASN][1000 genomes]
rs13407103	0.85[ASN][1000 genomes]
rs13416226	0.90[ASN][1000 genomes]
rs13417379	0.92[ASN][1000 genomes]
rs13419562	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.84[ASN][1000 genomes]
rs13420379	0.86[JPT][hapmap]
rs13421172	0.83[ASN][1000 genomes]
rs13422495	0.89[ASN][1000 genomes]
rs13429238	0.82[ASN][1000 genomes]
rs13429778	0.94[ASN][1000 genomes]
rs1386516	0.94[ASN][1000 genomes]
rs1386517	0.94[ASN][1000 genomes]
rs1386523	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16827461	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16827480	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2029232	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2029233	0.99[ASN][1000 genomes]
rs2370660	0.83[ASN][1000 genomes]
rs2370661	0.86[JPT][hapmap]
rs2370670	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2887769	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs34064534	0.89[ASN][1000 genomes]
rs34078354	0.94[ASN][1000 genomes]
rs34612138	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34749517	0.82[ASN][1000 genomes]
rs34750486	0.88[ASN][1000 genomes]
rs34753519	0.82[ASN][1000 genomes]
rs34916921	0.89[ASN][1000 genomes]
rs35141795	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35511463	0.82[ASN][1000 genomes]
rs35652084	0.83[ASN][1000 genomes]
rs35709645	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35811272	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35860748	0.92[ASN][1000 genomes]
rs4130833	0.92[ASN][1000 genomes]
rs4130834	0.92[ASN][1000 genomes]
rs4264536	0.92[ASN][1000 genomes]
rs4338930	0.81[ASN][1000 genomes]
rs4381751	0.99[ASN][1000 genomes]
rs4386289	0.92[ASN][1000 genomes]
rs4417686	0.82[ASN][1000 genomes]
rs4420679	0.89[ASN][1000 genomes]
rs4442964	0.92[ASN][1000 genomes]
rs4471852	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4493221	0.92[ASN][1000 genomes]
rs4494701	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4552153	0.92[ASN][1000 genomes]
rs4591311	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4591314	0.82[ASN][1000 genomes]
rs4600605	0.92[ASN][1000 genomes]
rs55690692	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs56309229	0.90[ASN][1000 genomes]
rs57423042	0.89[ASN][1000 genomes]
rs58489224	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59252797	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60344273	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60534107	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60746023	0.90[ASN][1000 genomes]
rs61558722	0.87[ASN][1000 genomes]
rs61573398	0.84[ASN][1000 genomes]
rs62199045	0.89[ASN][1000 genomes]
rs66610853	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66646464	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6713702	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6715226	0.91[JPT][hapmap]
rs6725624	0.92[ASN][1000 genomes]
rs6750636	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67872787	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72893941	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72893980	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72893984	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72899807	0.92[ASN][1000 genomes]
rs72899827	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72901780	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72903616	0.87[ASN][1000 genomes]
rs72903625	0.85[ASN][1000 genomes]
rs72903626	0.85[ASN][1000 genomes]
rs72903630	0.87[ASN][1000 genomes]
rs72903638	0.85[ASN][1000 genomes]
rs7559953	0.92[ASN][1000 genomes]
rs7582258	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs875162	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9288123	0.85[ASN][1000 genomes]
rs9288124	0.83[ASN][1000 genomes]
rs9630989	0.94[ASN][1000 genomes]
rs991084	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875545	chr2:186566024-187280164	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv817325	chr2:186625679-187200841	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv868949	chr2:186657142-187327560	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1002243	chr2:186692815-187150225	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv536077	chr2:186692815-187150225	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv932296	chr2:186737443-187265790	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv875547	chr2:186798249-187014815	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv875548	chr2:186798249-187164657	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv875550	chr2:186807268-186965143	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv875551	chr2:186844579-186965143	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1007635	chr2:186847770-186947882	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv1001737	chr2:186847770-186953324	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1007803	chr2:186847770-186959288	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv431846	chr2:186848494-186945624	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv431835	chr2:186848494-186960817	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv1005089	chr2:186848664-186953324	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv584027	chr2:186851224-186954427	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv584028	chr2:186851224-186965143	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	nsv584029	chr2:186851224-186971595	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv584030	chr2:186915437-187001076	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv1014798	chr2:186933314-186965502	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10931222	OSGEPL1	cis	parietal	SCAN
rs10931222	FRZB	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186928600-186948600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:186935600-186946200	Weak transcription	HepG2	liver
3	chr2:186940800-186946800	Weak transcription	Adipose Nuclei	Adipose
4	chr2:186940800-186946800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:186942800-186946200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:186943800-186946000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:186945600-186947200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:186945600-186947200	Weak transcription	Liver	Liver
9	chr2:186945600-186947400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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