Variant report

Variant	rs165627
Chromosome Location	chr22:29873494-29873495
allele	A/C
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	MXI1	chr22:29873451-29875094	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
NEFH	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs165865	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs174712	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs174719	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs380350	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs420395	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58619916	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7511168	0.89[ASN][1000 genomes]
rs8140270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29868000-29873600	Weak transcription	Brain Substantia Nigra	brain
2	chr22:29868200-29874200	Weak transcription	Ovary	ovary
3	chr22:29868400-29874200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr22:29869200-29873600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr22:29869200-29873600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr22:29869200-29873600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr22:29870600-29873600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr22:29870600-29873800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr22:29871600-29874400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr22:29872200-29874200	Active TSS	Brain Angular Gyrus	brain
11	chr22:29872800-29873600	Genic enhancers	Fetal Brain Female	brain
12	chr22:29873000-29874000	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr22:29873000-29874200	Active TSS	Brain Cingulate Gyrus	brain
14	chr22:29873200-29873800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr22:29873200-29873800	Active TSS	Brain Anterior Caudate	brain
16	chr22:29873200-29874000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
17	chr22:29873200-29874200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr22:29873200-29875400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr22:29873400-29873600	Active TSS	Brain Hippocampus Middle	brain
20	chr22:29873400-29874000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
21	chr22:29873400-29874200	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr22:29873400-29874400	Flanking Active TSS	Brain Germinal Matrix	brain
23	chr22:29873400-29875800	Enhancers	K562	blood

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