Variant report

Variant	rs6492305
Chromosome Location	chr13:111361400-111361401
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:111357144..111360099-chr13:111360341..111362234,3	K562	blood:

Variant related genes	Relation type
ENSG00000134905	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1061386	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11618891	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12875067	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1441042	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1441043	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2083568	0.83[AMR][1000 genomes]
rs2119479	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2165418	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2289461	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3809344	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3818496	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4771707	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4773240	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4773241	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4773244	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61971615	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6492302	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6492303	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6492304	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6492306	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6492308	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7318291	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7319459	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7330080	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7337126	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7338458	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs754599	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7984468	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7985098	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7986286	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7991766	0.86[EUR][1000 genomes]
rs9301476	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9515273	0.85[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9521910	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9521913	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9521914	0.85[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	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9588247	0.88[EUR][1000 genomes];0.91[ASN][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	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	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
rs6492305	CARS2	Cis_1M	lymphoblastoid	RTeQTL
rs6492305	CARS2	cis	Nerve Tibial	GTEx

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111359200-111363000	Weak transcription	Fetal Intestine Large	intestine
2	chr13:111359200-111363400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr13:111359200-111363600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr13:111359200-111363600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr13:111359200-111363600	Weak transcription	HUVEC	blood vessel
6	chr13:111359200-111363800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr13:111359200-111363800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr13:111359200-111363800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr13:111359200-111363800	Weak transcription	Stomach Mucosa	stomach
10	chr13:111359200-111363800	Weak transcription	HSMMtube	muscle
11	chr13:111359200-111364000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr13:111359400-111361400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr13:111359400-111363000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr13:111359400-111363000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr13:111359400-111363000	Weak transcription	Fetal Intestine Small	intestine
16	chr13:111359400-111363200	Weak transcription	Fetal Kidney	kidney
17	chr13:111359400-111363400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr13:111359400-111363400	Weak transcription	Fetal Lung	lung
19	chr13:111359400-111363600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr13:111359400-111363600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr13:111359400-111363600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr13:111359400-111363600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr13:111359400-111363600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr13:111359400-111363600	Weak transcription	Brain Germinal Matrix	brain
25	chr13:111359400-111363600	Weak transcription	Colonic Mucosa	Colon
26	chr13:111359400-111363600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr13:111359400-111363600	Weak transcription	Fetal Brain Male	brain
28	chr13:111359400-111363600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr13:111359400-111363600	Weak transcription	Fetal Stomach	stomach
30	chr13:111359400-111363600	Weak transcription	Left Ventricle	heart
31	chr13:111359400-111363600	Weak transcription	Lung	lung
32	chr13:111359400-111363600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr13:111359400-111363600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr13:111359400-111363600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr13:111359400-111363600	Weak transcription	Thymus	Thymus
36	chr13:111359400-111363600	Weak transcription	NH-A	brain
37	chr13:111359400-111363600	Weak transcription	NHLF	lung
38	chr13:111359400-111363800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr13:111359400-111363800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr13:111359400-111363800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr13:111359400-111363800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr13:111359400-111363800	Weak transcription	Brain Anterior Caudate	brain
43	chr13:111359400-111363800	Weak transcription	HMEC	breast
44	chr13:111359400-111363800	Weak transcription	HSMM	muscle
45	chr13:111359400-111363800	Weak transcription	NHEK	skin
46	chr13:111359400-111363800	Weak transcription	Osteobl	bone
47	chr13:111359400-111364000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr13:111359400-111364000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr13:111359600-111361600	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr13:111359600-111362200	Weak transcription	Monocytes-CD14+_RO01746	blood

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