Variant report

Variant	rs10443263
Chromosome Location	chr1:73071460-73071461
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10493505	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10889968	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10889983	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10889984	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11209986	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11209988	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11209999	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11210017	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11210027	0.83[ASN][1000 genomes]
rs11210030	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11582068	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11589065	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12024784	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12029382	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12038578	0.85[ASN][1000 genomes]
rs12042334	0.85[ASN][1000 genomes]
rs12047199	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12119472	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12119654	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12122859	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12126227	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12127252	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12128913	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12137919	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12141788	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12145832	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12402702	0.92[CHB][hapmap];0.89[JPT][hapmap]
rs12406649	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12725368	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12726880	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12726957	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12727294	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12743848	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2243622	0.92[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs2265053	0.85[ASN][1000 genomes]
rs4128304	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4147191	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4255334	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4259588	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4292903	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4294370	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4372200	0.82[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4424448	0.85[ASN][1000 genomes]
rs4638064	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4650145	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4650146	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6685232	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs6687187	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6691430	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6691978	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7514475	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7517246	0.85[ASN][1000 genomes]
rs7520480	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7526444	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9645299	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 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	nsv871074	chr1:72987229-73100055	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv1005157	chr1:73007962-73088158	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
4	nsv1000359	chr1:73008167-73088158	Enhancers Active TSS Weak transcription Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
5	nsv546564	chr1:73010123-73101763	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1000283	chr1:73011908-73088158	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	inside rSNPs	diseases
7	nsv432157	chr1:73012179-73088158	Weak transcription Enhancers Active TSS Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
8	esv2750838	chr1:73012179-73088179	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
9	esv2750839	chr1:73012179-73088179	Flanking Active TSS Weak transcription Enhancers Active TSS	lncRNA	n/a	inside rSNPs	diseases
10	nsv432046	chr1:73012179-73088179	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
11	nsv1011385	chr1:73012228-73088158	Enhancers Active TSS Flanking Active TSS Weak transcription	lncRNA	n/a	inside rSNPs	diseases
12	nsv432268	chr1:73012228-73088158	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
13	nsv997766	chr1:73012604-73088158	Enhancers Weak transcription Flanking Active TSS Active TSS	lncRNA	n/a	inside rSNPs	diseases
14	nsv1001781	chr1:73012777-73088158	Enhancers Weak transcription Flanking Active TSS Active TSS	lncRNA	n/a	inside rSNPs	diseases
15	nsv1007535	chr1:73014642-73088158	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
16	nsv546565	chr1:73015588-73090608	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
17	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
18	nsv516582	chr1:73021243-73084221	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	inside rSNPs	n/a
19	nsv546566	chr1:73040590-73079152	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
20	nsv546567	chr1:73041879-73075810	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
21	esv2830088	chr1:73048685-73082539	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
22	nsv871371	chr1:73048685-73152104	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
23	nsv871636	chr1:73048685-73274919	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:73070800-73072800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:73071400-73072000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr1:73071400-73073600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr1:73071400-73073600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:73071400-73074000	Enhancers	HUES64 Cell Line	embryonic stem cell

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