Variant report

Variant	rs1323989
Chromosome Location	chr13:94067260-94067261
allele	A/C
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:71)

rs_ID	r²[population]
rs1323972	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1359198	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1408211	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1445266	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1445271	0.88[ASN][1000 genomes]
rs1445272	0.88[ASN][1000 genomes]
rs1445273	0.88[ASN][1000 genomes]
rs1445275	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17234460	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17300206	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1900050	0.88[ASN][1000 genomes]
rs1924383	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1947077	0.88[ASN][1000 genomes]
rs1947079	0.87[ASN][1000 genomes]
rs1980727	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1987681	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2038727	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2590549	0.85[ASN][1000 genomes]
rs2590552	0.88[ASN][1000 genomes]
rs2762082	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2762092	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2762120	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2813618	0.82[ASN][1000 genomes]
rs2813619	0.88[ASN][1000 genomes]
rs2813620	0.83[ASN][1000 genomes]
rs2813621	0.87[ASN][1000 genomes]
rs2813623	0.82[ASN][1000 genomes]
rs2813627	0.88[ASN][1000 genomes]
rs2813628	0.86[ASN][1000 genomes]
rs2813631	0.85[ASN][1000 genomes]
rs2813636	0.88[ASN][1000 genomes]
rs2999500	0.83[ASN][1000 genomes]
rs4771875	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4773744	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4773745	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4773746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4773747	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72640517	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7329539	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7338402	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7997302	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs876808	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs895193	0.88[ASN][1000 genomes]
rs895194	0.88[ASN][1000 genomes]
rs9301877	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9301881	0.83[ASN][1000 genomes]
rs9516228	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9524029	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9524038	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9524039	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9524045	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9524051	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9524053	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9524058	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9524061	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9524070	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9524075	0.88[ASN][1000 genomes]
rs9556289	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9556291	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9561336	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9561340	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9561346	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9561347	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs973302	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs974542	0.88[ASN][1000 genomes]
rs974543	0.88[ASN][1000 genomes]
rs974544	0.88[ASN][1000 genomes]
rs996460	0.88[ASN][1000 genomes]
rs996461	0.88[ASN][1000 genomes]
rs996462	0.86[ASN][1000 genomes]
rs996463	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869070	chr13:93347616-94286933	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1053035	chr13:93842576-94229732	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541880	chr13:93842576-94229732	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv530636	chr13:93997311-94281707	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv916039	chr13:94035909-94191105	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1048843	chr13:94064931-94103524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	inside rSNPs	diseases
7	esv2530447	chr13:94066922-94068460	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94058600-94077600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:94066200-94067400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr13:94066200-94067400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr13:94066200-94067400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr13:94066200-94067600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr13:94066200-94067800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr13:94066400-94067400	Enhancers	H9 Cell Line	embryonic stem cell
8	chr13:94066400-94067400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr13:94066400-94067400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr13:94066400-94067400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr13:94066400-94067400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr13:94066400-94067600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr13:94066600-94067400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr13:94066800-94073200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:94067000-94067400	Enhancers	NH-A	brain
16	chr13:94067000-94067600	Enhancers	Osteobl	bone
17	chr13:94067000-94069800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr13:94067000-94071800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr13:94067000-94075400	Weak transcription	Fetal Lung	lung
20	chr13:94067200-94069000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr13:94067200-94069000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr13:94067200-94071600	Weak transcription	H1 Cell Line	embryonic stem cell

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