Variant report

Variant	rs7986286
Chromosome Location	chr13:111357207-111357208
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:111354377..111357375-chr13:111522032..111524115,2	K562	blood:
2	chr13:111266746..111269387-chr13:111357064..111359748,3	MCF-7	breast:
3	chr13:111266587..111269692-chr13:111357018..111359356,4	K562	blood:

Variant related genes	Relation type
ENSG00000213995	Chromatin interaction
ENSG00000255874	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1061386	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11618891	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12875067	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1441042	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1441043	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2083568	0.83[AMR][1000 genomes]
rs2119479	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2165418	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2289461	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3809344	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3818496	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4771707	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4773240	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4773241	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4773244	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61971615	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6492302	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6492303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6492304	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6492305	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6492306	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6492308	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7318291	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7319459	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7330080	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7337126	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7338458	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs754599	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7984468	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7985098	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7991766	0.86[EUR][1000 genomes]
rs9301476	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9515273	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9515274	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9521905	0.89[EUR][1000 genomes]
rs9521909	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9521910	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9521913	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9521914	0.84[EUR][1000 genomes]
rs9521915	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9555724	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9555726	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9559863	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9588247	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044234	chr13:111143053-111370580	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	216 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv901014	chr13:111302922-111380684	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	197 gene(s)	inside rSNPs	diseases
6	esv1818465	chr13:111329426-111360585	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	esv1820532	chr13:111329426-111360585	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv1823336	chr13:111329535-111360585	Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv519282	chr13:111343888-111360585	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
10	esv3345776	chr13:111356851-111361549	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7986286	CARS2	cis	Nerve Tibial	GTEx
rs7986286	CARS2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111312800-111357400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:111353400-111357600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:111354200-111357400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:111354200-111357400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr13:111354400-111357400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr13:111354400-111357600	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr13:111354600-111357400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr13:111354600-111357400	Enhancers	Fetal Heart	heart
9	chr13:111355000-111357600	Enhancers	Stomach Mucosa	stomach
10	chr13:111355600-111357400	Weak transcription	Brain Angular Gyrus	brain
11	chr13:111355600-111357800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:111355600-111357800	Weak transcription	Aorta	Aorta
13	chr13:111355600-111358000	Weak transcription	Small Intestine	intestine
14	chr13:111355800-111357400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr13:111355800-111357400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr13:111355800-111357400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr13:111355800-111357400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr13:111355800-111357400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr13:111355800-111357400	Weak transcription	Left Ventricle	heart
20	chr13:111355800-111357400	Weak transcription	Right Ventricle	heart
21	chr13:111355800-111357600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr13:111355800-111357600	Weak transcription	Right Atrium	heart
23	chr13:111355800-111358000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr13:111355800-111358000	Weak transcription	Gastric	stomach
25	chr13:111356000-111357400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr13:111356000-111357400	Weak transcription	Brain Germinal Matrix	brain
27	chr13:111356000-111357400	Weak transcription	Brain Hippocampus Middle	brain
28	chr13:111356200-111357400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr13:111356200-111357400	Enhancers	Rectal Smooth Muscle	rectum
30	chr13:111356200-111357400	Weak transcription	Thymus	Thymus
31	chr13:111356200-111357800	Weak transcription	Esophagus	oesophagus
32	chr13:111356400-111357400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr13:111356400-111357400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr13:111356400-111357400	Enhancers	Fetal Intestine Small	intestine
35	chr13:111356400-111357400	Weak transcription	Ovary	ovary
36	chr13:111356400-111357400	Weak transcription	Psoas Muscle	Psoas
37	chr13:111356400-111357400	Weak transcription	Spleen	Spleen
38	chr13:111356400-111357800	Flanking Active TSS	HMEC	breast
39	chr13:111356600-111357400	Enhancers	Primary B cells from peripheral blood	blood
40	chr13:111356600-111357400	Enhancers	Colon Smooth Muscle	Colon
41	chr13:111356600-111358400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr13:111356600-111358800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr13:111356800-111357400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr13:111356800-111357400	Enhancers	Primary T cells from cord blood	blood
45	chr13:111356800-111357400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr13:111356800-111357400	Weak transcription	Fetal Intestine Large	intestine
47	chr13:111356800-111357400	Enhancers	Fetal Muscle Trunk	muscle
48	chr13:111356800-111357400	Enhancers	Lung	lung
49	chr13:111356800-111357400	Enhancers	Stomach Smooth Muscle	stomach
50	chr13:111356800-111357400	Active TSS	Hela-S3	cervix

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