Variant report

Variant	rs9521914
Chromosome Location	chr13:111382231-111382232
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:111370419..111377483-chr13:111379803..111385146,6	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1061386	0.92[EUR][1000 genomes]
rs11618891	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12875067	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs1441042	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs1441043	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs2083568	0.82[ASN][1000 genomes]
rs2119479	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs2165418	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2986322	0.93[CHB][hapmap]
rs330571	0.93[CHB][hapmap];0.89[JPT][hapmap]
rs369676	0.93[CHB][hapmap]
rs3809344	0.84[EUR][1000 genomes]
rs3818496	0.81[ASN][1000 genomes]
rs386109	0.93[CHB][hapmap];0.80[JPT][hapmap]
rs389656	0.92[CHB][hapmap];0.83[JPT][hapmap]
rs410049	0.92[CHB][hapmap];0.83[JPT][hapmap]
rs416552	0.91[CHB][hapmap];0.89[JPT][hapmap]
rs440500	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs4771707	0.85[EUR][1000 genomes]
rs4773240	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs4773241	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs4773244	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61971615	0.85[EUR][1000 genomes]
rs6492302	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6492303	0.84[EUR][1000 genomes]
rs6492304	0.82[EUR][1000 genomes]
rs6492305	0.85[EUR][1000 genomes]
rs6492306	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6492308	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7318291	0.92[EUR][1000 genomes]
rs7319459	0.86[EUR][1000 genomes]
rs7330080	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7337126	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7338458	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs754599	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs7984468	0.80[EUR][1000 genomes]
rs7985098	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7986286	0.84[EUR][1000 genomes]
rs7991766	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8000294	0.93[CHB][hapmap];0.85[JPT][hapmap]
rs9301476	0.83[EUR][1000 genomes]
rs9515273	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9515274	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9521905	0.92[EUR][1000 genomes]
rs9521909	0.85[EUR][1000 genomes]
rs9521912	0.86[EUR][1000 genomes]
rs9521913	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9521915	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9555724	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9555726	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9559863	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9588247	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949634	chr13:111151460-111582996	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
2	nsv1044340	chr13:111234073-111692994	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
3	nsv1048700	chr13:111265350-111658617	Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
4	esv3440925	chr13:111378000-111406978	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv1041716	chr13:111378180-111516489	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv541926	chr13:111378180-111516489	Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9521914	CARS2	cis	Nerve Tibial	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111370200-111383400	Weak transcription	Right Atrium	heart
2	chr13:111372200-111383400	Weak transcription	Esophagus	oesophagus
3	chr13:111372200-111383600	Weak transcription	Aorta	Aorta
4	chr13:111372200-111384200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr13:111372400-111382400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr13:111372400-111383200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr13:111372400-111383400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr13:111372400-111384200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:111373600-111382600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr13:111373600-111383200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr13:111374200-111382600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr13:111375400-111383400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr13:111375800-111383800	Weak transcription	Fetal Stomach	stomach
14	chr13:111376400-111383000	Weak transcription	HSMMtube	muscle
15	chr13:111378200-111385400	Weak transcription	Spleen	Spleen
16	chr13:111378200-111390800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr13:111378400-111383800	Weak transcription	Thymus	Thymus
18	chr13:111378800-111382600	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr13:111382000-111382800	Enhancers	Primary B cells from peripheral blood	blood

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