Variant report

Variant	rs55801595
Chromosome Location	chr22:29669712-29669713
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:29669700-29669904	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr22:29668703-29670003	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr22:29669619-29670058	GM12878	blood:	n/a	n/a
4	POLR2A	chr22:29669607-29669880	HepG2	liver:	n/a	n/a
5	POLR2A	chr22:29663864-29670382	HepG2	liver:	n/a	n/a
6	POLR2A	chr22:29669621-29670062	GM12878	blood:	n/a	n/a
7	POLR2A	chr22:29669652-29670002	PFSK-1	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29665589..29670159-chr22:29686550..29689191,4	K562	blood:
2	chr22:29668749..29671101-chr22:29682905..29685609,2	K562	blood:
3	chr22:29667551..29671101-chr22:29682510..29685609,3	K562	blood:
4	chr22:29666189..29669898-chr22:29695758..29699606,3	K562	blood:
5	chr22:29668659..29670410-chr22:29686550..29689032,2	K562	blood:

No data

Variant related genes	Relation type
EWSR1	TF binding region
ENSG00000182944	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2231396	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv829154	chr22:29617485-29724001	Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS 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
3	nsv834171	chr22:29626402-29829844	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv829155	chr22:29664396-29724001	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29665000-29669800	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr22:29665600-29670400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
3	chr22:29665800-29672600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr22:29666200-29672800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:29666400-29672600	Weak transcription	Spleen	Spleen
6	chr22:29666400-29672800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:29666600-29670400	Genic enhancers	Sigmoid Colon	Sigmoid Colon
8	chr22:29666800-29674000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr22:29667000-29675400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr22:29667200-29670000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr22:29667200-29670000	Strong transcription	Fetal Stomach	stomach
12	chr22:29667200-29670000	Genic enhancers	Hela-S3	cervix
13	chr22:29667200-29670200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr22:29667200-29672800	Weak transcription	Gastric	stomach
15	chr22:29667200-29673200	Genic enhancers	HepG2	liver
16	chr22:29667200-29676200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr22:29667200-29695000	Strong transcription	Placenta	Placenta
18	chr22:29667400-29674200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr22:29667600-29669800	Genic enhancers	Adipose Nuclei	Adipose
20	chr22:29667600-29670400	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr22:29667600-29670400	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr22:29667600-29674200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr22:29667600-29674400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
24	chr22:29667600-29697800	Strong transcription	Fetal Muscle Trunk	muscle
25	chr22:29667800-29672600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr22:29667800-29674000	Weak transcription	Psoas Muscle	Psoas
27	chr22:29667800-29675200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr22:29667800-29697000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr22:29667800-29697200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr22:29667800-29697800	Strong transcription	Fetal Thymus	thymus
31	chr22:29668000-29670000	Genic enhancers	Brain Anterior Caudate	brain
32	chr22:29668000-29670000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
33	chr22:29668000-29671200	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr22:29668000-29671800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr22:29668000-29672600	Weak transcription	Aorta	Aorta
36	chr22:29668000-29673400	Genic enhancers	Liver	Liver
37	chr22:29668000-29674400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr22:29668000-29697000	Strong transcription	NHEK	skin
39	chr22:29668000-29697200	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr22:29668000-29697200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr22:29668000-29697600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr22:29668000-29697600	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr22:29668000-29698000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr22:29668000-29698200	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr22:29668200-29670200	Genic enhancers	Primary T cells from cord blood	blood
46	chr22:29668200-29671200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr22:29668200-29671200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr22:29668200-29671400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr22:29668200-29671400	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr22:29668200-29671600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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