Variant report

Variant	rs55916029
Chromosome Location	chr22:29865426-29865427
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29865160..29867687-chr22:29913906..29916895,2	MCF-7	breast:
2	chr22:29792519..29794058-chr22:29864789..29867115,2	MCF-7	breast:
3	chr22:29857259..29859794-chr22:29863672..29866457,2	K562	blood:
4	chr22:29863203..29869053-chr22:29871800..29876725,7	K562	blood:
5	chr22:29858816..29860851-chr22:29864972..29867318,2	MCF-7	breast:
6	chr22:29852290..29855034-chr22:29863929..29866105,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225465	Chromatin interaction
ENSG00000100285	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2530655	1.00[AFR][1000 genomes]
rs467510	1.00[AFR][1000 genomes]
rs55937417	1.00[AFR][1000 genomes]
rs73159090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
9	nsv1062039	chr22:29854861-29889201	Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv438344	chr22:29856079-29886043	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29836600-29866000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr22:29850600-29867200	Weak transcription	Ovary	ovary
3	chr22:29853200-29866200	Weak transcription	Right Atrium	heart
4	chr22:29856200-29865600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr22:29859600-29865600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr22:29860600-29865800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr22:29861600-29873200	Weak transcription	Brain Anterior Caudate	brain
8	chr22:29863200-29865800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr22:29863600-29866400	Weak transcription	Gastric	stomach
10	chr22:29863800-29865800	Weak transcription	Fetal Brain Female	brain
11	chr22:29864600-29865600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
12	chr22:29864600-29865800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr22:29864600-29866000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr22:29864600-29866000	Enhancers	HMEC	breast
15	chr22:29864800-29865800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr22:29864800-29865800	Strong transcription	Brain Germinal Matrix	brain
17	chr22:29864800-29866000	Enhancers	NHEK	skin
18	chr22:29865200-29865600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
19	chr22:29865400-29865600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
20	chr22:29865400-29865800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
21	chr22:29865400-29865800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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