Variant report

Variant	rs11124274
Chromosome Location	chr2:32265917-32265918
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr2:32265817-32266460	K562	blood:	n/a	n/a
2	HCFC1	chr2:32263858-32265949	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr2:32265854-32266320	K562	blood:	n/a	n/a
4	NR2F2	chr2:32264604-32265998	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:32264101..32266985-chr2:32387828..32391332,6	K562	blood:
2	chr2:32233869..32239615-chr2:32259766..32267170,13	K562	blood:
3	chr2:32263820..32266854-chr2:32389080..32393861,5	MCF-7	breast:
4	chr2:32256593..32258983-chr2:32264905..32266579,2	K562	blood:
5	chr2:32234151..32237531-chr2:32262421..32266825,7	K562	blood:
6	chr2:32233050..32238839-chr2:32262715..32266551,10	MCF-7	breast:
7	chr2:32262396..32266546-chr2:32286416..32291415,12	K562	blood:
8	chr2:32263267..32267327-chr2:32283931..32290396,13	MCF-7	breast:
9	chr2:32231133..32238127-chr2:32263164..32266706,7	MCF-7	breast:
10	chr2:32264894..32267187-chr2:32274162..32276934,2	MCF-7	breast:
11	chr2:32262818..32267061-chr2:32286978..32290820,6	MCF-7	breast:
12	chr2:32264868..32267001-chr2:32389298..32391324,2	K562	blood:
13	chr2:32186536..32189109-chr2:32265198..32266972,2	MCF-7	breast:

No data

Variant related genes	Relation type
DPY30	TF binding region
ENSG00000272716	Chromatin interaction
ENSG00000021574	Chromatin interaction
ENSG00000162959	Chromatin interaction
ENSG00000271228	Chromatin interaction
ENSG00000152683	Chromatin interaction

Extended variants
information (count: 138 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:136)

rs_ID	r²[population]
rs10208246	0.95[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs10439444	1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs10490360	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11124275	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11124276	0.91[ASN][1000 genomes]
rs11124277	0.87[ASN][1000 genomes]
rs11676938	0.89[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11678119	0.83[ASW][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap]
rs11681731	0.82[ASN][1000 genomes]
rs11683931	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11686061	0.88[ASN][1000 genomes]
rs11691879	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12465124	0.86[ASN][1000 genomes]
rs12465351	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12474443	0.86[ASN][1000 genomes]
rs12611678	0.84[ASN][1000 genomes]
rs12614686	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap]
rs12617289	0.85[ASN][1000 genomes]
rs12617290	0.85[ASN][1000 genomes]
rs12618002	0.82[ASN][1000 genomes]
rs12620922	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1272585	0.95[CHB][hapmap];0.95[CHD][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs12989936	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12992743	0.93[ASN][1000 genomes]
rs12997026	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs13000753	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13007972	0.83[ASN][1000 genomes]
rs13008192	0.81[ASN][1000 genomes]
rs13017189	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13022197	0.88[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs13024004	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13029752	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13033833	0.86[ASN][1000 genomes]
rs13427170	1.00[CHB][hapmap];0.97[CHD][hapmap];0.82[JPT][hapmap]
rs13431540	0.84[ASN][1000 genomes]
rs160797	0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap]
rs160801	0.95[CHB][hapmap];0.92[CHD][hapmap];0.87[JPT][hapmap]
rs17767988	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1904489	0.82[ASN][1000 genomes]
rs212679	0.89[CEU][hapmap];0.82[JPT][hapmap]
rs212687	0.86[CHD][hapmap];0.81[GIH][hapmap]
rs212699	0.89[CEU][hapmap];0.89[GIH][hapmap]
rs212701	0.89[CEU][hapmap];0.89[GIH][hapmap]
rs212703	0.91[CHB][hapmap];0.95[CHD][hapmap]
rs212714	0.89[GIH][hapmap]
rs212715	0.89[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap]
rs212716	0.84[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap]
rs212717	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.87[JPT][hapmap];0.91[MEX][hapmap]
rs212738	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs212739	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap]
rs212744	0.82[JPT][hapmap]
rs212745	0.95[CEU][hapmap];0.81[JPT][hapmap]
rs212746	0.95[CEU][hapmap];0.82[JPT][hapmap]
rs212748	0.81[JPT][hapmap]
rs212755	0.86[CHD][hapmap];0.82[JPT][hapmap]
rs212758	0.95[CEU][hapmap];0.85[TSI][hapmap]
rs212759	0.95[CEU][hapmap];0.85[TSI][hapmap]
rs212760	0.95[CEU][hapmap];0.82[JPT][hapmap]
rs212762	0.86[JPT][hapmap]
rs216538	0.92[ASN][1000 genomes]
rs216544	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs2235134	0.89[ASN][1000 genomes]
rs2280967	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2280969	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2294176	0.82[ASN][1000 genomes]
rs2294179	0.84[ASN][1000 genomes]
rs2365555	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2365558	0.86[ASN][1000 genomes]
rs2366297	0.82[CHB][hapmap]
rs2366736	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs34856365	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35650265	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36014814	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3752916	1.00[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs3752917	0.80[ASN][1000 genomes]
rs3769602	0.90[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.83[JPT][hapmap]
rs3769604	0.83[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.91[ASN][1000 genomes]
rs3769606	0.89[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3851308	0.80[ASN][1000 genomes]
rs3851310	0.84[CEU][hapmap]
rs430759	0.89[CEU][hapmap];0.89[GIH][hapmap]
rs454119	0.87[ASN][1000 genomes]
rs467523	1.00[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs469305	0.80[CEU][hapmap];0.83[ASN][1000 genomes]
rs4952209	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[JPT][hapmap]
rs4952248	0.94[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap]
rs4952249	0.82[ASN][1000 genomes]
rs4952250	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs4952252	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[JPT][hapmap]
rs55730514	0.82[ASN][1000 genomes]
rs56208031	0.82[ASN][1000 genomes]
rs56740303	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62142080	0.83[ASN][1000 genomes]
rs6543647	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs660393	0.86[ASN][1000 genomes]
rs67157050	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6716179	0.91[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap]
rs6717209	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs6723154	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap]
rs6725184	0.83[ASW][hapmap];0.95[CEU][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes]
rs6737500	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6738349	0.88[ASN][1000 genomes]
rs6747488	0.94[ASN][1000 genomes]
rs6748621	0.89[ASW][hapmap];0.95[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6749336	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6752375	0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs6758024	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6760105	0.89[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6761417	0.82[ASN][1000 genomes]
rs678251	0.96[ASN][1000 genomes]
rs72862234	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7370704	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7559964	0.82[ASN][1000 genomes]
rs7561519	0.89[ASW][hapmap];0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.94[ASN][1000 genomes]
rs7566162	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7572964	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs7573543	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs7575139	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7577408	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7577696	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7581032	0.86[ASN][1000 genomes]
rs7581340	0.89[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs7581432	1.00[CHB][hapmap];0.97[CHD][hapmap];0.82[JPT][hapmap]
rs7586448	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7588883	0.95[CHB][hapmap];0.97[CHD][hapmap];0.82[JPT][hapmap]
rs7600173	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7600885	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7601267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7604559	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7605242	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7608127	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7608229	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9677104	0.83[ASN][1000 genomes]
rs9750659	0.84[ASN][1000 genomes]
rs9752631	0.87[ASN][1000 genomes]
rs9752651	0.82[ASN][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	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11124274	DPY30	cis	parietal	SCAN
rs11124274	EHD3	cis	parietal	SCAN
rs11124274	SLC30A6	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32264400-32266600	Active TSS	K562	blood
2	chr2:32265600-32268200	Weak transcription	Brain Anterior Caudate	brain
3	chr2:32265800-32266000	Enhancers	Dnd41	blood
4	chr2:32265800-32266800	Weak transcription	HepG2	liver

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