Variant report

Variant	rs73407027
Chromosome Location	chr22:29866984-29866985
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29865160..29867687-chr22:29913906..29916895,2	MCF-7	breast:
2	chr22:29861087..29864747-chr22:29865747..29867984,3	K562	blood:
3	chr22:29792519..29794058-chr22:29864789..29867115,2	MCF-7	breast:
4	chr22:29866152..29869730-chr22:29872379..29875672,4	MCF-7	breast:
5	chr22:29866168..29866984-chr22:29877594..29878224,2	K562	blood:
6	chr22:29780492..29782846-chr22:29865528..29867159,2	MCF-7	breast:
7	chr22:29865857..29867643-chr22:29876448..29878393,2	MCF-7	breast:
8	chr22:29863203..29869053-chr22:29871800..29876725,7	K562	blood:
9	chr22:29858816..29860851-chr22:29864972..29867318,2	MCF-7	breast:
10	chr22:29866353..29868086-chr22:29877604..29879531,2	K562	blood:
11	chr22:29865572..29868086-chr22:29877991..29879531,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100285	Chromatin interaction
ENSG00000225465	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs2231397	1.00[AMR][1000 genomes]
rs56678071	1.00[AMR][1000 genomes]
rs58075735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58938110	1.00[AMR][1000 genomes]
rs60483568	1.00[AMR][1000 genomes]
rs60619083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60770384	1.00[AMR][1000 genomes]
rs73401064	1.00[AMR][1000 genomes]
rs73401075	1.00[AMR][1000 genomes]
rs73401085	1.00[AMR][1000 genomes]
rs73401086	1.00[AMR][1000 genomes]
rs73401088	1.00[AMR][1000 genomes]
rs73401101	1.00[AMR][1000 genomes]
rs73403003	1.00[AMR][1000 genomes]
rs73403006	1.00[AMR][1000 genomes]
rs73403025	1.00[AMR][1000 genomes]
rs73403028	1.00[AMR][1000 genomes]
rs73403032	1.00[AMR][1000 genomes]
rs73403036	1.00[AMR][1000 genomes]
rs73403038	1.00[AMR][1000 genomes]
rs73405063	1.00[AMR][1000 genomes]
rs73405072	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73407010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73407013	1.00[AFR][1000 genomes]
rs73407015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73407023	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29850600-29867200	Weak transcription	Ovary	ovary
2	chr22:29861600-29873200	Weak transcription	Brain Anterior Caudate	brain
3	chr22:29865800-29868600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr22:29866200-29867000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr22:29866200-29867000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr22:29866400-29867000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
7	chr22:29866400-29869000	Weak transcription	Brain Angular Gyrus	brain
8	chr22:29866400-29871400	Weak transcription	GM12878-XiMat	blood
9	chr22:29866400-29873000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr22:29866600-29867000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr22:29866600-29867000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr22:29866600-29867000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr22:29866600-29867000	Active TSS	Right Ventricle	heart
14	chr22:29866600-29867200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr22:29866600-29867600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr22:29866600-29867800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr22:29866600-29870800	Weak transcription	Right Atrium	heart
18	chr22:29866800-29867000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr22:29866800-29867000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr22:29866800-29867000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr22:29866800-29867000	Bivalent Enhancer	Placenta	Placenta
22	chr22:29866800-29867200	Weak transcription	Brain Germinal Matrix	brain
23	chr22:29866800-29871600	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr22:29866800-29872400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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