Variant report

Variant	rs56169845
Chromosome Location	chr22:31483161-31483162
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr22:31482894-31483280	K562	blood:	n/a	chr22:31483168-31483176 chr22:31483167-31483177 chr22:31483167-31483177 chr22:31483166-31483178
2	GATA2	chr22:31482878-31483230	SH-SY5Y	brain:	n/a	chr22:31483044-31483053 chr22:31483169-31483178
3	GATA3	chr22:31482799-31483356	MCF-7	breast:	n/a	chr22:31483044-31483053 chr22:31483169-31483178
4	MYC	chr22:31483032-31483187	K562	blood:	n/a	n/a
5	TAL1	chr22:31482937-31483197	K562	blood:	n/a	n/a
6	GATA3	chr22:31482809-31483238	MCF-7	breast:	n/a	chr22:31483044-31483053 chr22:31483169-31483178
7	POLR2A	chr22:31482841-31483398	K562	blood:	n/a	n/a
8	GATA1	chr22:31482912-31483226	PBDE	blood:	n/a	chr22:31483044-31483053 chr22:31483169-31483178
9	RCOR1	chr22:31482811-31483214	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:31476077..31485695-chr22:31490616..31506508,29	K562	blood:
2	chr22:31342107..31344742-chr22:31481093..31483316,2	K562	blood:
3	chr22:31354949..31372607-chr22:31475365..31485377,53	MCF-7	breast:
4	chr22:31482773..31485037-chr22:31624990..31627898,2	K562	blood:
5	chr22:31288265..31290834-chr22:31482128..31484552,2	K562	blood:
6	chr22:31482757..31485252-chr22:31500477..31503688,4	K562	blood:
7	chr22:31358868..31372302-chr22:31474097..31485545,64	MCF-7	breast:
8	chr22:31478816..31484481-chr22:31493390..31497944,7	MCF-7	breast:
9	chr22:31336067..31338299-chr22:31480944..31483823,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273387	TF binding region
SMTN	TF binding region
ENSG00000198832	Chromatin interaction
ENSG00000184792	Chromatin interaction
ENSG00000253352	Chromatin interaction
ENSG00000183963	Chromatin interaction
ENSG00000133422	Chromatin interaction
ENSG00000202019	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11913100	1.00[AMR][1000 genomes]
rs2286214	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41282559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56095120	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61529391	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62236113	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62236114	1.00[AMR][1000 genomes]
rs62236115	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62236119	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62236120	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62236122	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62236124	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62236125	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62236126	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7284985	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7285584	1.00[AMR][1000 genomes];0.85[EUR][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	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv914975	chr22:31466083-31514477	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv914976	chr22:31475307-31543260	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv914977	chr22:31477563-31514477	Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31478200-31483400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr22:31478400-31484000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:31478400-31484000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr22:31478600-31483200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr22:31481000-31484800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr22:31481400-31494200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:31481400-31494600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr22:31481600-31483400	Weak transcription	Primary T cells from cord blood	blood
9	chr22:31481600-31483400	Enhancers	K562	blood
10	chr22:31481600-31483600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr22:31481600-31484000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
12	chr22:31481600-31486400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr22:31481600-31487400	Genic enhancers	Fetal Muscle Trunk	muscle
14	chr22:31481600-31488200	Weak transcription	Psoas Muscle	Psoas
15	chr22:31481600-31491800	Weak transcription	Small Intestine	intestine
16	chr22:31481600-31493800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr22:31481800-31483200	Enhancers	Brain Anterior Caudate	brain
18	chr22:31481800-31483400	Genic enhancers	Fetal Intestine Small	intestine
19	chr22:31481800-31483600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr22:31481800-31483600	Weak transcription	Fetal Kidney	kidney
21	chr22:31481800-31483600	Weak transcription	Dnd41	blood
22	chr22:31481800-31483800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr22:31481800-31483800	Weak transcription	Fetal Brain Female	brain
24	chr22:31481800-31484000	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr22:31481800-31484400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr22:31481800-31485400	Genic enhancers	Fetal Muscle Leg	muscle
27	chr22:31481800-31486200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr22:31481800-31486800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr22:31481800-31486800	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr22:31481800-31487200	Genic enhancers	Placenta	Placenta
31	chr22:31481800-31494400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr22:31482000-31483200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr22:31482000-31483200	Enhancers	Left Ventricle	heart
34	chr22:31482000-31483400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr22:31482000-31483600	Genic enhancers	HSMM	muscle
36	chr22:31482000-31483800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr22:31482000-31484800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr22:31482000-31484800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr22:31482000-31485400	Weak transcription	Primary B cells from cord blood	blood
40	chr22:31482000-31486800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr22:31482000-31487400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr22:31482000-31487600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr22:31482000-31488800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr22:31482000-31489600	Weak transcription	Fetal Brain Male	brain
45	chr22:31482000-31494600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr22:31482000-31496200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
47	chr22:31482000-31497400	Strong transcription	Aorta	Aorta
48	chr22:31482000-31497800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr22:31482000-31497800	Weak transcription	Hela-S3	cervix
50	chr22:31482000-31500800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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