Variant report

Variant	rs5753143
Chromosome Location	chr22:30839978-30839979
allele	C/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30781821..30783349-chr22:30839370..30842109,2	K562	blood:
2	chr22:30827529..30829177-chr22:30839737..30842354,2	K562	blood:
3	chr22:30839710..30841304-chr22:30897619..30899951,2	K562	blood:
4	chr22:30839545..30842321-chr22:30849222..30852849,3	K562	blood:
5	chr22:30685629..30687266-chr22:30839148..30841021,2	K562	blood:
6	chr22:30817233..30818848-chr22:30838471..30840689,2	K562	blood:
7	chr22:30839961..30842016-chr22:30851349..30853503,2	K562	blood:
8	chr22:30818699..30820979-chr22:30839778..30841389,2	K562	blood:
9	chr22:30818867..30823842-chr22:30836918..30842867,11	K562	blood:
10	chr22:30765777..30768205-chr22:30839224..30841289,2	K562	blood:
11	chr22:30783511..30785819-chr22:30839208..30841180,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000242114	Chromatin interaction
ENSG00000099999	Chromatin interaction
ENSG00000272689	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1047917	0.85[ASN][1000 genomes]
rs1057995	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs11089451	0.97[ASN][1000 genomes]
rs1465222	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465224	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2015166	1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]
rs2074650	0.85[ASN][1000 genomes]
rs2240345	0.85[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2269963	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs2412986	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2412987	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2412988	0.85[ASN][1000 genomes]
rs2899150	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3804078	0.84[ASN][1000 genomes]
rs4820848	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4820850	0.85[ASN][1000 genomes]
rs4820851	0.85[ASN][1000 genomes]
rs4820854	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs4820856	1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs4820857	0.82[ASN][1000 genomes]
rs4820858	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs5749095	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5749103	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs5749104	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs5749105	0.84[ASN][1000 genomes]
rs5753141	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5753146	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753148	0.81[AMR][1000 genomes]
rs5753150	0.89[ASN][1000 genomes]
rs5753151	0.97[ASN][1000 genomes]
rs5753152	0.97[ASN][1000 genomes]
rs5753156	0.83[ASN][1000 genomes]
rs5753157	0.85[ASN][1000 genomes]
rs5753160	0.85[ASN][1000 genomes]
rs5753161	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs5753162	0.82[ASN][1000 genomes]
rs5997650	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5997653	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs5997654	0.82[ASN][1000 genomes]
rs5997655	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs5997656	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs757662	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs757663	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs8135169	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs8141805	0.85[ASN][1000 genomes]
rs9306260	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs9306261	0.82[ASN][1000 genomes]
rs9620988	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9620998	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv459870	chr22:30836313-30868418	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv588886	chr22:30836313-30868418	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30831800-30841000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:30832000-30841600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr22:30832000-30850000	Weak transcription	Right Atrium	heart
4	chr22:30832200-30852400	Weak transcription	Spleen	Spleen
5	chr22:30836400-30840600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr22:30837400-30841200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr22:30838400-30841000	Weak transcription	NH-A	brain
8	chr22:30839000-30841000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr22:30839000-30841000	Enhancers	Hela-S3	cervix
10	chr22:30839400-30840800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr22:30839400-30840800	Weak transcription	GM12878-XiMat	blood
12	chr22:30839400-30840800	Weak transcription	HMEC	breast
13	chr22:30839400-30840800	Weak transcription	HUVEC	blood vessel
14	chr22:30839400-30841000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr22:30839400-30841000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr22:30839400-30841000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr22:30839400-30841000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr22:30839400-30841000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr22:30839400-30841000	Weak transcription	HSMM	muscle
20	chr22:30839400-30841000	Weak transcription	NHDF-Ad	bronchial
21	chr22:30839400-30841000	Weak transcription	NHEK	skin
22	chr22:30839400-30841000	Weak transcription	NHLF	lung
23	chr22:30839400-30841000	Weak transcription	Osteobl	bone
24	chr22:30839400-30841200	Weak transcription	Left Ventricle	heart
25	chr22:30839400-30841400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr22:30839400-30841600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr22:30839600-30840000	Weak transcription	K562	blood
28	chr22:30839600-30842400	Weak transcription	Esophagus	oesophagus
29	chr22:30839800-30840000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr22:30839800-30840000	Enhancers	Ovary	ovary
31	chr22:30839800-30841000	Weak transcription	Dnd41	blood

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