Variant report

Variant	rs5763273
Chromosome Location	chr22:29891274-29891275
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29876192..29877953-chr22:29890493..29892542,2	K562	blood:

Variant related genes	Relation type
ENSG00000100285	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2348471	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5752925	0.85[ASN][1000 genomes]
rs5752926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5752927	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5752928	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5752932	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5763272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763282	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5763285	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5763288	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5997485	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5997487	0.80[ASN][1000 genomes]
rs6006167	0.85[ASN][1000 genomes]
rs6006172	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6006176	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6006177	0.92[ASN][1000 genomes]
rs756630	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[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	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1058156	chr22:29772043-30024013	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv544675	chr22:29772043-30024013	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1062373	chr22:29826745-30092448	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv544676	chr22:29826745-30092448	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29877400-29900600	Weak transcription	Right Atrium	heart
2	chr22:29878000-29900800	Weak transcription	Fetal Brain Female	brain
3	chr22:29878000-29903000	Weak transcription	Pancreas	Pancrea
4	chr22:29878400-29895600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:29878400-29899800	Weak transcription	Fetal Intestine Large	intestine
6	chr22:29878400-29899800	Weak transcription	NH-A	brain
7	chr22:29878800-29902600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr22:29879000-29898600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr22:29879000-29899600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr22:29879200-29901200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr22:29879600-29898800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr22:29879600-29899400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr22:29880400-29901000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr22:29882000-29899200	Weak transcription	Brain Angular Gyrus	brain
15	chr22:29882800-29903200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr22:29883600-29899800	Weak transcription	Brain Germinal Matrix	brain
17	chr22:29883800-29904000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr22:29884000-29902200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr22:29884800-29901200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr22:29885000-29902600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr22:29885600-29904000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr22:29886000-29903400	Weak transcription	Gastric	stomach
23	chr22:29886200-29895400	Weak transcription	Fetal Stomach	stomach
24	chr22:29886200-29899600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr22:29886200-29902800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr22:29886800-29899800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr22:29887400-29902000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr22:29887600-29902000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr22:29888800-29901000	Weak transcription	Thymus	Thymus
30	chr22:29888800-29901200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr22:29889000-29900800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr22:29889400-29899800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr22:29889600-29899800	Weak transcription	NHLF	lung
34	chr22:29889800-29899800	Weak transcription	NHDF-Ad	bronchial
35	chr22:29890000-29899800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr22:29890400-29900800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr22:29890600-29891400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr22:29890600-29891400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr22:29890600-29891400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
40	chr22:29890600-29891400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr22:29890600-29891400	ZNF genes & repeats	Aorta	Aorta
42	chr22:29890600-29891400	ZNF genes & repeats	Fetal Intestine Small	intestine
43	chr22:29890600-29891400	ZNF genes & repeats	HSMM	muscle
44	chr22:29890800-29891400	ZNF genes & repeats	Fetal Muscle Leg	muscle
45	chr22:29890800-29898400	Weak transcription	Brain Hippocampus Middle	brain
46	chr22:29890800-29901800	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr22:29890800-29902200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr22:29891000-29899800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr22:29891000-29900200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr22:29891000-29901400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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