Variant report

Variant	rs9521733
Chromosome Location	chr13:111034542-111034543
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	chr13:111021258..111023149-chr13:111033167..111035272,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11838637	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1999013	0.81[EUR][1000 genomes]
rs4771674	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4773170	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs4773171	0.83[CHB][hapmap];0.81[CHD][hapmap];0.84[JPT][hapmap]
rs4773173	1.00[CHB][hapmap];0.91[CHD][hapmap];0.82[GIH][hapmap];0.84[JPT][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61963197	0.86[AMR][1000 genomes]
rs7318424	0.83[CHB][hapmap];0.81[CHD][hapmap];0.84[JPT][hapmap]
rs7333748	0.84[JPT][hapmap]
rs7334022	0.84[JPT][hapmap]
rs750598	1.00[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs872587	0.84[JPT][hapmap]
rs872588	0.84[JPT][hapmap]
rs872589	0.84[JPT][hapmap]
rs913746	0.84[JPT][hapmap]
rs9515195	0.84[JPT][hapmap]
rs9515196	0.84[JPT][hapmap]
rs9515197	0.84[JPT][hapmap]
rs9515199	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9515200	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9521717	0.84[JPT][hapmap]
rs9521718	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs9521719	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs9521720	0.84[JPT][hapmap]
rs9521721	0.84[JPT][hapmap]
rs9521730	0.95[CHB][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];0.89[JPT][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9521732	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9521734	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9521739	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs952359	1.00[CHB][hapmap];0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9555692	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs9555694	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs9555695	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9559780	0.84[JPT][hapmap]
rs9559781	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs9588151	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9521733	CARS2	cis	parietal	SCAN

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111015600-111036600	Weak transcription	Fetal Intestine Small	intestine
2	chr13:111024400-111040200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:111024800-111039400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:111028400-111034600	Enhancers	NHDF-Ad	bronchial
5	chr13:111031000-111038400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:111031000-111039800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr13:111031600-111035400	Enhancers	NHLF	lung
8	chr13:111031600-111040200	Weak transcription	Aorta	Aorta
9	chr13:111031800-111035800	Enhancers	HUVEC	blood vessel
10	chr13:111032400-111035200	Enhancers	NHEK	skin
11	chr13:111032600-111036600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:111032600-111037600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:111032600-111037600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr13:111032600-111040200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr13:111032800-111034800	Enhancers	HMEC	breast
16	chr13:111032800-111036800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr13:111033000-111035400	Genic enhancers	HSMM	muscle
18	chr13:111033200-111034600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:111033200-111037000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr13:111033200-111039600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr13:111033200-111039800	Weak transcription	Fetal Lung	lung
22	chr13:111033200-111040200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr13:111033400-111034600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr13:111033400-111034800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr13:111033400-111035600	Weak transcription	Fetal Heart	heart
26	chr13:111033400-111037000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr13:111033400-111037800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr13:111033600-111036000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr13:111033600-111036200	Weak transcription	Right Ventricle	heart
30	chr13:111033600-111036400	Weak transcription	Placenta	Placenta
31	chr13:111033600-111037000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr13:111033600-111037600	Weak transcription	Pancreas	Pancrea
33	chr13:111033600-111039800	Weak transcription	Spleen	Spleen
34	chr13:111033800-111036000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr13:111033800-111036000	Weak transcription	Esophagus	oesophagus
36	chr13:111033800-111036600	Weak transcription	Left Ventricle	heart
37	chr13:111033800-111036800	Weak transcription	Fetal Stomach	stomach
38	chr13:111033800-111037000	Weak transcription	Lung	lung
39	chr13:111033800-111039800	Weak transcription	Right Atrium	heart
40	chr13:111034000-111034600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr13:111034000-111036000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr13:111034000-111041200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr13:111034200-111034600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr13:111034200-111034600	Enhancers	Colon Smooth Muscle	Colon
45	chr13:111034200-111034800	Enhancers	A549	lung
46	chr13:111034200-111035200	Enhancers	Osteobl	bone
47	chr13:111034200-111036000	Weak transcription	Fetal Muscle Leg	muscle
48	chr13:111034200-111036200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr13:111034200-111037000	Weak transcription	Gastric	stomach
50	chr13:111034200-111037200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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