Variant report

Variant	rs5753069
Chromosome Location	chr22:30726156-30726157
allele	A/C
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	chr22:30679955..30682000-chr22:30725118..30726971,2	K562	blood:
2	chr22:30723840..30727994-chr22:30728827..30733130,4	K562	blood:
3	chr22:30720496..30722809-chr22:30723809..30726893,3	MCF-7	breast:
4	chr22:30723090..30724854-chr22:30725952..30728416,2	K562	blood:
5	chr22:30726026..30729085-chr22:30749869..30754191,5	MCF-7	breast:
6	chr22:30710168..30712716-chr22:30726036..30728244,2	MCF-7	breast:
7	chr22:30679226..30682000-chr22:30723679..30728534,4	K562	blood:
8	chr22:30721941..30724645-chr22:30725200..30726744,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000099995	Chromatin interaction
ENSG00000187860	Chromatin interaction
ENSG00000099992	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs1002189	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1076271	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1076295	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1076296	0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1076297	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1076298	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1076299	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1079227	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11705092	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11912350	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11913885	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13053375	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13053595	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13054303	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13055431	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13056253	0.92[ASN][1000 genomes]
rs13056326	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13057340	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13057861	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17656850	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17657174	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17657653	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17657701	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17658238	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17730485	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17730538	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17736937	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1990268	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2229807	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2240420	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299825	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28360656	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34367123	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34995457	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35289401	0.86[ASN][1000 genomes]
rs35293738	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35537171	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35711436	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35782599	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4390846	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820005	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820006	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820007	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820835	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4820836	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4820838	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4820839	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4823089	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55979575	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56300819	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5749062	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5749063	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5749067	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5749075	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5749076	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5749077	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5749080	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5749081	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5749086	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5749087	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5749088	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753058	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753060	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753061	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753070	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753073	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753078	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753082	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753095	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5753096	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5753097	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5753101	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753105	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753106	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753110	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753113	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs5753127	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5763928	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5763932	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59731356	0.86[ASN][1000 genomes]
rs61322750	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62228968	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7284531	0.92[ASN][1000 genomes]
rs7287175	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7287908	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7288947	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737750	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737751	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs737813	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs737948	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs740084	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs740220	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs740222	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs740223	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs757868	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8136826	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv834174	chr22:30619760-30746915	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv984527	chr22:30698358-30732712	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv3593	chr22:30705980-30751122	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
6	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
7	nsv1064350	chr22:30724148-30742125	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	n/a
8	nsv1066179	chr22:30724148-30766466	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs5753069	RNF215	cis	Heart Left Ventricle	GTEx
rs5753069	RP1-130H16.16	cis	Thyroid	GTEx
rs5753069	RP1-130H16.16	cis	lung	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30723000-30728400	Weak transcription	Small Intestine	intestine
2	chr22:30723400-30726400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr22:30723400-30726400	Weak transcription	Left Ventricle	heart
4	chr22:30723400-30726400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr22:30723400-30726600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:30723400-30726600	Weak transcription	Brain Substantia Nigra	brain
7	chr22:30723400-30726600	Weak transcription	Gastric	stomach
8	chr22:30723400-30726600	Weak transcription	Lung	lung
9	chr22:30723400-30727400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr22:30723400-30728400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr22:30723400-30728600	Weak transcription	Esophagus	oesophagus
12	chr22:30723400-30728600	Weak transcription	Right Ventricle	heart
13	chr22:30723400-30728800	Weak transcription	Ovary	ovary
14	chr22:30723400-30729400	Weak transcription	Psoas Muscle	Psoas
15	chr22:30723400-30732600	Weak transcription	Right Atrium	heart
16	chr22:30723600-30726400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr22:30723600-30726400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr22:30723600-30726400	Weak transcription	Adipose Nuclei	Adipose
19	chr22:30723600-30726600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr22:30723600-30726600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr22:30723600-30726600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr22:30723600-30726600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr22:30723600-30726600	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr22:30723600-30726600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr22:30723600-30726600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr22:30723600-30726600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr22:30723600-30726600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr22:30723600-30726600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr22:30723600-30726600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr22:30723600-30726600	Weak transcription	Spleen	Spleen
31	chr22:30723600-30726800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr22:30723600-30728200	Weak transcription	NHLF	lung
33	chr22:30723600-30728400	Weak transcription	Brain Hippocampus Middle	brain
34	chr22:30723600-30728400	Weak transcription	Colon Smooth Muscle	Colon
35	chr22:30723600-30728600	Weak transcription	Aorta	Aorta
36	chr22:30723600-30729400	Weak transcription	Fetal Brain Male	brain
37	chr22:30723600-30730400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr22:30723600-30751600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr22:30723800-30726400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr22:30723800-30726400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr22:30723800-30726400	Weak transcription	Fetal Brain Female	brain
42	chr22:30723800-30726400	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr22:30723800-30726600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr22:30723800-30726600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr22:30723800-30726600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr22:30723800-30726600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr22:30723800-30726600	Weak transcription	Brain Anterior Caudate	brain
48	chr22:30723800-30726600	Weak transcription	NHDF-Ad	bronchial
49	chr22:30723800-30726800	Weak transcription	Brain Germinal Matrix	brain
50	chr22:30723800-30727000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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