Variant report

Variant	rs9613427
Chromosome Location	chr22:27727464-27727465
allele	C/T
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	CTCF	chr22:27727458-27728369	SK-N-SH	brain:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CRYBA4-9	chr22:27727380-27727574	XLOC_014198

Variant related genes	Relation type
ENSG00000230051	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16984280	0.80[AFR][1000 genomes]
rs16984284	1.00[CEU][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16984514	1.00[ASN][1000 genomes]
rs28546189	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs480029	1.00[GIH][hapmap]
rs73153970	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9613428	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9625184	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv834166	chr22:27628570-27814359	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	14 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	chr22:27722000-27727600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr22:27724600-27729000	Enhancers	Fetal Brain Male	brain
3	chr22:27725800-27727600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:27725800-27727600	Weak transcription	Ovary	ovary
5	chr22:27725800-27727800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr22:27726000-27727600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr22:27726000-27727600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr22:27726000-27727600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr22:27726000-27727600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr22:27726200-27727600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr22:27726200-27727600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr22:27726200-27727600	Weak transcription	Brain Germinal Matrix	brain
13	chr22:27726600-27727600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr22:27727000-27729200	Active TSS	Brain Anterior Caudate	brain
15	chr22:27727200-27728000	Enhancers	A549	lung
16	chr22:27727400-27728000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr22:27727400-27728200	Enhancers	H9 Cell Line	embryonic stem cell
18	chr22:27727400-27728200	Enhancers	Primary hematopoietic stem cells	blood
19	chr22:27727400-27728200	Active TSS	Fetal Brain Female	brain
20	chr22:27727400-27728200	Enhancers	Pancreas	Pancrea
21	chr22:27727400-27728400	Enhancers	H1 Cell Line	embryonic stem cell
22	chr22:27727400-27728400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr22:27727400-27728400	Bivalent Enhancer	Fetal Stomach	stomach
24	chr22:27727400-27728600	Enhancers	Duodenum Smooth Muscle	Duodenum

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