Variant report

Variant	rs853180
Chromosome Location	chr5:142629443-142629444
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:142628145..142630590-chr5:142781755..142785995,6	K562	blood:
2	chr5:142629234..142631315-chr5:142636942..142639138,2	K562	blood:
3	chr5:142592013..142594135-chr5:142628509..142630012,2	K562	blood:
4	chr5:142627694..142631315-chr5:142636071..142640618,4	K562	blood:
5	chr5:142586560..142588309-chr5:142628376..142629905,2	K562	blood:
6	chr5:142627537..142630194-chr5:142778531..142780745,2	K562	blood:
7	chr5:142626811..142632494-chr5:142781185..142784003,6	K562	blood:
8	chr5:142628455..142630100-chr5:142784495..142786471,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000113580	Chromatin interaction
ENSG00000145819	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10041520	0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs11750560	0.81[ASN][1000 genomes]
rs258763	0.89[ASN][1000 genomes]
rs33383	0.87[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs33388	0.85[CHB][hapmap];0.91[CHD][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs4634384	0.90[JPT][hapmap]
rs6191	0.85[ASN][1000 genomes]
rs6877893	0.90[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7716360	0.84[ASN][1000 genomes]
rs852976	0.89[ASN][1000 genomes]
rs852980	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs852983	0.85[ASN][1000 genomes]
rs853153	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs853175	0.81[ASN][1000 genomes]
rs853177	0.82[AFR][1000 genomes]
rs853183	0.89[ASN][1000 genomes]
rs853184	0.83[ASW][hapmap]
rs860465	0.84[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825941	chr5:142568715-142728031	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs853180	HARS2	cis	cerebellum	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142623200-142632200	Enhancers	K562	blood
2	chr5:142627000-142630000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:142627200-142629800	Enhancers	NHLF	lung
4	chr5:142627400-142629600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:142627600-142629800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:142628000-142629800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:142628000-142630000	Enhancers	NHDF-Ad	bronchial
8	chr5:142628200-142629600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr5:142628200-142629600	Enhancers	Liver	Liver
10	chr5:142628200-142629600	Enhancers	Placenta Amnion	Placenta Amnion
11	chr5:142628200-142629600	Enhancers	Osteobl	bone
12	chr5:142628200-142630200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:142628200-142630200	Enhancers	NHEK	skin
14	chr5:142628400-142629600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr5:142628400-142629600	Enhancers	HSMM	muscle
16	chr5:142628400-142629600	Enhancers	NH-A	brain
17	chr5:142628400-142629800	Enhancers	Left Ventricle	heart
18	chr5:142628400-142629800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr5:142628400-142630000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:142628400-142630000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:142628400-142630000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:142628400-142630000	Enhancers	Psoas Muscle	Psoas
23	chr5:142628400-142630000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr5:142628400-142630200	Enhancers	HMEC	breast
25	chr5:142628600-142630000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr5:142628600-142631600	Enhancers	Fetal Intestine Large	intestine
27	chr5:142629000-142632000	Enhancers	A549	lung
28	chr5:142629000-142632200	Enhancers	GM12878-XiMat	blood
29	chr5:142629200-142629600	Enhancers	Aorta	Aorta
30	chr5:142629200-142630400	Weak transcription	Fetal Intestine Small	intestine
31	chr5:142629200-142630800	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr5:142629200-142631000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:142629200-142631400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr5:142629200-142634200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:142629400-142630200	Enhancers	Hela-S3	cervix
36	chr5:142629400-142630400	Weak transcription	Stomach Mucosa	stomach
37	chr5:142629400-142630800	Weak transcription	Duodenum Mucosa	Duodenum

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