Variant report

Variant	rs9521894
Chromosome Location	chr13:111327842-111327843
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs12429651	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12430171	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12584848	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1853860	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1853861	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2296655	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2296656	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2296658	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2296659	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28683030	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2986104	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35206921	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs365103	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs376834	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs388049	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4238278	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4268629	0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4628819	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4771706	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs544186	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs59261018	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66605126	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72661663	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72661672	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72661683	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7328567	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7328764	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7335010	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7335538	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7336134	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7336283	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7399501	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7984290	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7985128	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7985899	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7993933	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8000867	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9521887	0.91[AMR][1000 genomes]
rs9521888	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9521893	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9583520	0.81[ASN][1000 genomes]
rs9583523	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9583524	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9588232	0.83[AMR][1000 genomes]
rs9588235	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv1053922	chr13:111167764-111330876	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1043849	chr13:111167764-111340418	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription 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 lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv541924	chr13:111167764-111340418	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1036160	chr13:111167764-111347308	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv541925	chr13:111167764-111347308	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv901012	chr13:111220842-111340342	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	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
10	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
11	nsv1042232	chr13:111282123-111348475	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
12	nsv901013	chr13:111291192-111340342	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
13	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
14	esv1819597	chr13:111319754-111343888	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv1824622	chr13:111319754-111343888	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9521894	CARKD	cis	Muscle Skeletal	GTEx
rs9521894	AL139385.1	cis	Muscle Skeletal	GTEx
rs9521894	CARS2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111280800-111328600	Weak transcription	Psoas Muscle	Psoas
2	chr13:111297800-111336400	Weak transcription	Small Intestine	intestine
3	chr13:111302200-111351400	Weak transcription	Stomach Mucosa	stomach
4	chr13:111310800-111352200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr13:111311600-111352000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr13:111312800-111357400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr13:111316200-111330600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr13:111316400-111328000	Weak transcription	A549	lung
9	chr13:111316600-111332800	Weak transcription	K562	blood
10	chr13:111318000-111328000	Weak transcription	Brain Angular Gyrus	brain
11	chr13:111318800-111328000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr13:111318800-111328000	Weak transcription	Esophagus	oesophagus
13	chr13:111319000-111328200	Weak transcription	Pancreas	Pancrea
14	chr13:111319000-111328400	Weak transcription	Right Ventricle	heart
15	chr13:111319400-111328000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr13:111319400-111328000	Weak transcription	Colon Smooth Muscle	Colon
17	chr13:111319400-111328000	Weak transcription	NHLF	lung
18	chr13:111319400-111328200	Weak transcription	Aorta	Aorta
19	chr13:111319400-111328600	Weak transcription	Brain Substantia Nigra	brain
20	chr13:111319400-111337600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr13:111319600-111328000	Weak transcription	Brain Hippocampus Middle	brain
22	chr13:111319800-111328000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr13:111319800-111328000	Weak transcription	Brain Anterior Caudate	brain
24	chr13:111319800-111328400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr13:111319800-111328400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr13:111319800-111348400	Weak transcription	Fetal Brain Male	brain
27	chr13:111319800-111354600	Weak transcription	Fetal Heart	heart
28	chr13:111320000-111328000	Weak transcription	Primary T cells from cord blood	blood
29	chr13:111320200-111328400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr13:111320200-111339200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr13:111320400-111328000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr13:111320400-111328200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr13:111320600-111328000	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr13:111320600-111328000	Weak transcription	Brain Germinal Matrix	brain
35	chr13:111320600-111328000	Weak transcription	Placenta	Placenta
36	chr13:111320600-111328200	Weak transcription	HUVEC	blood vessel
37	chr13:111320600-111328600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr13:111321800-111328000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr13:111321800-111328000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr13:111321800-111328000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr13:111321800-111328000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr13:111321800-111328000	Weak transcription	Liver	Liver
43	chr13:111321800-111328000	Weak transcription	GM12878-XiMat	blood
44	chr13:111321800-111328000	Weak transcription	HepG2	liver
45	chr13:111321800-111328000	Weak transcription	NH-A	brain
46	chr13:111321800-111328000	Weak transcription	Osteobl	bone
47	chr13:111321800-111328200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr13:111321800-111328400	Weak transcription	HMEC	breast
49	chr13:111321800-111328400	Weak transcription	NHEK	skin
50	chr13:111321800-111328600	Weak transcription	HSMM	muscle

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