Variant report

Variant	rs9534919
Chromosome Location	chr13:48591939-48591940
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11148100	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1185727	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1544078	0.81[AMR][1000 genomes]
rs1886975	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1972347	0.81[ASN][1000 genomes]
rs2031590	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2148244	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2182376	0.80[ASN][1000 genomes]
rs2406693	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2406697	0.80[ASN][1000 genomes]
rs2406698	0.84[ASN][1000 genomes]
rs4245347	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4447314	0.80[ASN][1000 genomes]
rs4522322	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4941621	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4942726	0.86[ASN][1000 genomes]
rs4942728	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4942730	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4942739	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61973260	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6561427	0.80[ASN][1000 genomes]
rs7318770	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7319245	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7325189	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7326889	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7327260	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7327730	0.80[ASN][1000 genomes]
rs7328525	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7328537	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7328549	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7329419	0.80[AFR][1000 genomes]
rs7331900	0.81[AFR][1000 genomes]
rs7990244	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7990266	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7996580	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7997802	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7998116	0.80[ASN][1000 genomes]
rs7998260	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7998497	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7998998	0.80[ASN][1000 genomes]
rs8000164	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8001432	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9316343	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9316344	0.80[ASN][1000 genomes]
rs9526422	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9526430	0.80[ASN][1000 genomes]
rs9526433	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9534876	0.81[AMR][1000 genomes]
rs9534903	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9534904	0.80[ASN][1000 genomes]
rs9534905	0.80[ASN][1000 genomes]
rs9534906	0.80[ASN][1000 genomes]
rs9534907	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9534908	0.80[ASN][1000 genomes]
rs9534912	0.80[ASN][1000 genomes]
rs9534913	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9534918	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9534923	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9534926	0.80[ASN][1000 genomes]
rs9567958	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9567964	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9567976	0.80[ASN][1000 genomes]
rs9567980	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9567986	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430556	chr13:48516799-48679099	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv974089	chr13:48588484-48594798	Enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9534919	SUCLA2	cis	Muscle Skeletal	GTEx

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48576000-48603600	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr13:48576000-48604000	Weak transcription	Primary T cells from cord blood	blood
3	chr13:48576000-48604800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr13:48576000-48604800	Weak transcription	Fetal Stomach	stomach
5	chr13:48576000-48604800	Weak transcription	Thymus	Thymus
6	chr13:48576000-48610800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr13:48576000-48611400	Weak transcription	Left Ventricle	heart
8	chr13:48576200-48592000	Weak transcription	Fetal Intestine Small	intestine
9	chr13:48576400-48605000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr13:48576600-48604800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr13:48576600-48604800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr13:48576600-48604800	Weak transcription	Dnd41	blood
13	chr13:48576600-48610200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr13:48583400-48592800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr13:48583800-48604600	Weak transcription	Liver	Liver
16	chr13:48584000-48604600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr13:48584000-48610800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr13:48584200-48604800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr13:48584200-48611200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr13:48584400-48592800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr13:48584400-48604600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr13:48584800-48604800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:48586000-48603800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr13:48587400-48604000	Weak transcription	Primary B cells from cord blood	blood
25	chr13:48588000-48603800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr13:48588600-48605800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr13:48588800-48605200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr13:48589000-48604800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr13:48589200-48605200	Weak transcription	Fetal Intestine Large	intestine

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