Variant report

Variant	rs56361614
Chromosome Location	chr6:106979676-106979677
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	chr6:106979071..106980974-chr6:106992342..106994569,2	K562	blood:

Variant related genes	Relation type
ENSG00000112297	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1159148	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13193036	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13194986	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13202166	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13202942	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13207381	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13218830	0.89[ASN][1000 genomes]
rs13218960	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13219061	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13220097	0.89[ASN][1000 genomes]
rs17495644	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17495720	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17560979	0.89[ASN][1000 genomes]
rs1841688	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1841689	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1870866	0.89[ASN][1000 genomes]
rs2306099	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2353050	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs34590393	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs35090908	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35452551	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35546863	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35790766	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35843244	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs55858175	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72941340	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7740989	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7752730	0.89[ASN][1000 genomes]
rs9320173	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9320174	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9320175	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9480681	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9480682	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9486381	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9486382	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9486383	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9486384	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9486385	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9486386	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9486387	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9486388	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv870375	chr6:106696090-107047892	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1025510	chr6:106791080-106982400	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv538404	chr6:106791080-106982400	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs56361614	QRSL1	cis	Muscle Skeletal	GTEx
rs56361614	QRSL1	Cis_1M	lymphoblastoid	RTeQTL
rs56361614	QRSL1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106961000-106981000	Weak transcription	Lung	lung
2	chr6:106961000-107001400	Weak transcription	Gastric	stomach
3	chr6:106964800-106991000	Weak transcription	Spleen	Spleen
4	chr6:106964800-107029800	Weak transcription	Small Intestine	intestine
5	chr6:106968200-106980800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:106970000-106981000	Weak transcription	Esophagus	oesophagus
7	chr6:106970600-107022400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:106973200-106981000	Weak transcription	Colonic Mucosa	Colon
9	chr6:106973200-106981000	Weak transcription	Fetal Intestine Small	intestine
10	chr6:106973400-106979800	Enhancers	Hela-S3	cervix
11	chr6:106973400-106981000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:106973400-106985600	Weak transcription	Stomach Mucosa	stomach
13	chr6:106973600-106980000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr6:106973600-106980800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:106973600-106985800	Weak transcription	Thymus	Thymus
16	chr6:106973600-106986000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr6:106973600-106992800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr6:106973800-106980200	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr6:106974000-106980800	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr6:106974000-106980800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr6:106974600-106982400	Strong transcription	Primary hematopoietic stem cells	blood
22	chr6:106974800-106981000	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr6:106974800-106982600	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr6:106975000-106981600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:106975000-106983400	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr6:106975200-106979800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr6:106975200-106981200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:106975200-106983000	Strong transcription	Adipose Nuclei	Adipose
29	chr6:106975400-106980200	Strong transcription	Primary B cells from peripheral blood	blood
30	chr6:106975800-106979800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr6:106976000-106979800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr6:106976000-106979800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr6:106976000-106983200	Strong transcription	Duodenum Mucosa	Duodenum
34	chr6:106976200-106982800	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr6:106976400-106980800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr6:106976400-106981600	Strong transcription	Primary B cells from cord blood	blood
37	chr6:106976400-106986200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr6:106976600-106980800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr6:106976600-106980800	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr6:106976600-106982000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
41	chr6:106976600-106991400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:106977000-106986400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:106977400-106981000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr6:106977600-106981600	Genic enhancers	NHEK	skin
45	chr6:106977800-106980800	Weak transcription	Placenta	Placenta
46	chr6:106978000-106982400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr6:106978200-106980200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr6:106978600-106980800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr6:106978600-106983400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:106978800-106980200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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