Variant report

Variant	rs59120691
Chromosome Location	chr22:29622254-29622255
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:6)
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	chr22:29619192-29622958	GM12878	blood:	n/a	n/a
2	POLR2A	chr22:29621701-29622447	GM12892	blood:	n/a	n/a
3	POLR2A	chr22:29621512-29622958	GM12878	blood:	n/a	n/a
4	POLR2A	chr22:29622246-29622914	GM12878	blood:	n/a	n/a
5	POLR2A	chr22:29621752-29622959	K562	blood:	n/a	n/a
6	POLR2A	chr22:29620586-29622849	PBDE	blood:	n/a	n/a
7	POLR2A	chr22:29620375-29622871	GM19099	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29609378..29611506-chr22:29620734..29622343,2	MCF-7	breast:
2	chr22:29612161..29619581-chr22:29619796..29623989,9	K562	blood:
3	chr22:29622067..29623775-chr22:29624148..29626498,2	K562	blood:
4	chr22:29617687..29619581-chr22:29621568..29623250,2	K562	blood:
5	chr22:29621556..29624508-chr22:29627726..29630197,3	K562	blood:
6	chr22:29611701..29614819-chr22:29620518..29622673,3	K562	blood:

No data

Variant related genes	Relation type
EMID1	TF binding region
ENSG00000186998	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2009159	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv524483	chr22:29525126-29630337	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv1809952	chr22:29595349-29661434	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv1806500	chr22:29604787-29635071	Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv522714	chr22:29612508-29630337	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29617200-29627800	Weak transcription	Gastric	stomach
2	chr22:29619200-29622600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr22:29619400-29622400	Enhancers	Colonic Mucosa	Colon
4	chr22:29619400-29622400	Strong transcription	Dnd41	blood
5	chr22:29619400-29623000	Enhancers	Fetal Muscle Leg	muscle
6	chr22:29619600-29622400	Genic enhancers	Fetal Intestine Small	intestine
7	chr22:29619600-29623000	Strong transcription	Fetal Brain Female	brain
8	chr22:29620000-29622400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr22:29620000-29622400	Enhancers	Brain Hippocampus Middle	brain
10	chr22:29620000-29622600	Enhancers	Placenta	Placenta
11	chr22:29620000-29622800	Enhancers	Fetal Lung	lung
12	chr22:29620200-29623000	Enhancers	Spleen	Spleen
13	chr22:29620400-29622800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr22:29620600-29622400	Enhancers	Duodenum Mucosa	Duodenum
15	chr22:29620600-29622800	Enhancers	Lung	lung
16	chr22:29620800-29622400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:29621000-29622400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr22:29621000-29622400	Enhancers	Right Atrium	heart
19	chr22:29621000-29622400	Enhancers	Right Ventricle	heart
20	chr22:29621000-29622800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr22:29621200-29622400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr22:29621400-29622400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr22:29621400-29622400	Weak transcription	Colon Smooth Muscle	Colon
24	chr22:29621600-29622600	Bivalent Enhancer	Adipose Nuclei	Adipose
25	chr22:29621800-29622600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr22:29621800-29630200	Weak transcription	Brain Germinal Matrix	brain
27	chr22:29622000-29622400	Enhancers	HSMM	muscle
28	chr22:29622000-29622600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr22:29622000-29622600	Enhancers	Stomach Smooth Muscle	stomach
30	chr22:29622000-29622600	Enhancers	HSMMtube	muscle
31	chr22:29622000-29625800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr22:29622000-29629000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr22:29622000-29655200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr22:29622000-29655800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr22:29622200-29622400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr22:29622200-29622400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr22:29622200-29622400	Genic enhancers	Fetal Stomach	stomach
38	chr22:29622200-29622600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr22:29622200-29622600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr22:29622200-29622800	Strong transcription	Fetal Intestine Large	intestine
41	chr22:29622200-29623000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr22:29622200-29623400	Weak transcription	Pancreas	Pancrea
43	chr22:29622200-29627200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr22:29622200-29628400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr22:29622200-29629800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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