Variant report

Variant	rs2244685
Chromosome Location	chr1:73035524-73035525
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10465865	1.00[ASN][1000 genomes]
rs10465866	1.00[ASN][1000 genomes]
rs10889969	1.00[ASN][1000 genomes]
rs10889976	1.00[ASN][1000 genomes]
rs10889981	1.00[ASN][1000 genomes]
rs11209987	1.00[ASN][1000 genomes]
rs11209989	1.00[ASN][1000 genomes]
rs11209993	1.00[ASN][1000 genomes]
rs11209997	1.00[ASN][1000 genomes]
rs11209998	1.00[ASN][1000 genomes]
rs11210000	1.00[ASN][1000 genomes]
rs11210001	1.00[ASN][1000 genomes]
rs11210002	1.00[ASN][1000 genomes]
rs11210015	1.00[ASN][1000 genomes]
rs11210016	1.00[ASN][1000 genomes]
rs11210018	1.00[ASN][1000 genomes]
rs11210019	1.00[ASN][1000 genomes]
rs11210021	1.00[ASN][1000 genomes]
rs11210022	1.00[ASN][1000 genomes]
rs11210028	1.00[ASN][1000 genomes]
rs11210036	1.00[ASN][1000 genomes]
rs11210042	1.00[ASN][1000 genomes]
rs11803059	1.00[ASN][1000 genomes]
rs11807168	1.00[ASN][1000 genomes]
rs12062883	1.00[ASN][1000 genomes]
rs12066284	1.00[ASN][1000 genomes]
rs12066923	1.00[ASN][1000 genomes]
rs12070137	1.00[ASN][1000 genomes]
rs12072129	1.00[ASN][1000 genomes]
rs12072443	1.00[ASN][1000 genomes]
rs12072444	1.00[ASN][1000 genomes]
rs12073769	1.00[ASN][1000 genomes]
rs12073811	1.00[ASN][1000 genomes]
rs12076822	1.00[ASN][1000 genomes]
rs12078724	1.00[ASN][1000 genomes]
rs12082218	1.00[ASN][1000 genomes]
rs12082422	1.00[ASN][1000 genomes]
rs12087633	1.00[ASN][1000 genomes]
rs12087817	1.00[ASN][1000 genomes]
rs12088885	1.00[ASN][1000 genomes]
rs12092131	1.00[ASN][1000 genomes]
rs12092187	1.00[ASN][1000 genomes]
rs13352999	1.00[ASN][1000 genomes]
rs1373915	1.00[ASN][1000 genomes]
rs17093152	1.00[ASN][1000 genomes]
rs17093160	1.00[ASN][1000 genomes]
rs17093164	1.00[ASN][1000 genomes]
rs17093275	1.00[ASN][1000 genomes]
rs17093297	1.00[ASN][1000 genomes]
rs17093299	1.00[ASN][1000 genomes]
rs17093396	1.00[ASN][1000 genomes]
rs2017920	1.00[ASN][1000 genomes]
rs2244679	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2244943	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2255208	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2255220	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2255572	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2255605	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2255606	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2255692	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2255706	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2590940	1.00[ASN][1000 genomes]
rs2841184	1.00[ASN][1000 genomes]
rs28416453	1.00[ASN][1000 genomes]
rs28464217	1.00[ASN][1000 genomes]
rs34236777	1.00[ASN][1000 genomes]
rs4595322	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4650141	1.00[ASN][1000 genomes]
rs56690886	1.00[ASN][1000 genomes]
rs57867136	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59526352	1.00[ASN][1000 genomes]
rs60276726	1.00[ASN][1000 genomes]
rs61138734	1.00[ASN][1000 genomes]
rs61224710	1.00[ASN][1000 genomes]
rs61464630	1.00[ASN][1000 genomes]
rs6657668	1.00[ASN][1000 genomes]
rs6690920	1.00[ASN][1000 genomes]
rs72942866	1.00[ASN][1000 genomes]
rs72942886	1.00[ASN][1000 genomes]
rs72942900	1.00[ASN][1000 genomes]
rs72944803	1.00[ASN][1000 genomes]
rs72946915	1.00[ASN][1000 genomes]
rs72948923	1.00[ASN][1000 genomes]
rs7521173	1.00[ASN][1000 genomes]
rs7536612	1.00[ASN][1000 genomes]
rs9326103	1.00[ASN][1000 genomes]
rs9326104	1.00[ASN][1000 genomes]
rs9326105	1.00[ASN][1000 genomes]
rs986381	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422432	chr1:72821856-73148651	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv546563	chr1:72956037-73041879	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv871074	chr1:72987229-73100055	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1005157	chr1:73007962-73088158	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
5	nsv1000359	chr1:73008167-73088158	Enhancers Active TSS Weak transcription Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
6	nsv546564	chr1:73010123-73101763	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv1000283	chr1:73011908-73088158	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	inside rSNPs	diseases
8	nsv432157	chr1:73012179-73088158	Weak transcription Enhancers Active TSS Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
9	esv2750838	chr1:73012179-73088179	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
10	esv2750839	chr1:73012179-73088179	Flanking Active TSS Weak transcription Enhancers Active TSS	lncRNA	n/a	inside rSNPs	diseases
11	nsv432046	chr1:73012179-73088179	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
12	nsv1011385	chr1:73012228-73088158	Enhancers Active TSS Flanking Active TSS Weak transcription	lncRNA	n/a	inside rSNPs	diseases
13	nsv432268	chr1:73012228-73088158	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
14	nsv997766	chr1:73012604-73088158	Enhancers Weak transcription Flanking Active TSS Active TSS	lncRNA	n/a	inside rSNPs	diseases
15	nsv1001781	chr1:73012777-73088158	Enhancers Weak transcription Flanking Active TSS Active TSS	lncRNA	n/a	inside rSNPs	diseases
16	nsv1007535	chr1:73014642-73088158	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
17	nsv546565	chr1:73015588-73090608	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
18	nsv428101	chr1:73017520-73211351	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv516582	chr1:73021243-73084221	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:73034200-73036000	Weak transcription	Fetal Heart	heart
2	chr1:73034200-73036200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:73034400-73036400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:73034400-73036400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:73035000-73036200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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