Variant report

Variant	rs5998712
Chromosome Location	chr22:33448652-33448653
allele	C/T
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:33339333-33353583..22:33444644-33452523	Hela-S3	cervix:
2	22:32860159-32865649..22:33444644-33452523	K562	blood:
3	22:32477762-32487457..22:33444644-33452523	GM12878	blood:
4	22:32578360-32590642..22:33444644-33452523	K562	blood:
5	22:32162110-32166713..22:33444644-33452523	GM12878	blood:
6	chr22:33448226..33451356-chr22:33451433..33454731,3	K562	blood:
7	22:31864703-31891033..22:33444644-33452523	K562	blood:
8	22:32764253-32784733..22:33444644-33452523	H1-hESC	embryonic stem cell:	embryo
9	22:32920308-32927723..22:33444644-33452523	GM12878	blood:
10	22:32170492-32188129..22:33444644-33452523	Hela-S3	cervix:
11	22:33262063-33266567..22:33444644-33452523	Hela-S3	cervix:
12	22:32750950-32761732..22:33444644-33452523	H1-hESC	embryonic stem cell:	embryo
13	22:32868055-32872511..22:33444644-33452523	Hela-S3	cervix:
14	22:32188129-32210582..22:33444644-33452523	K562	blood:
15	22:32915608-32918105..22:33444644-33452523	K562	blood:
16	22:32802848-32805157..22:33444644-33452523	Hela-S3	cervix:
17	22:32102727-32109893..22:33444644-33452523	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
ENSG00000199248	Chromatin interaction
ENSG00000100220	Chromatin interaction
ENSG00000128276	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000232218	Chromatin interaction
ENSG00000205853	Chromatin interaction
ENSG00000243519	Chromatin interaction
ENSG00000100170	Chromatin interaction
ENSG00000128253	Chromatin interaction
ENSG00000241954	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000100225	Chromatin interaction
ENSG00000230736	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000271093	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000183530	Chromatin interaction
ENSG00000185666	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11089602	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11089604	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59148349	1.00[ASN][1000 genomes]
rs7285055	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73393634	0.97[ASN][1000 genomes]
rs73393640	0.97[ASN][1000 genomes]
rs73393652	1.00[ASN][1000 genomes]
rs73393657	1.00[ASN][1000 genomes]
rs9621622	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9621627	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9621633	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531568	chr22:33336868-33480272	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv948523	chr22:33414164-34098417	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33432400-33449800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr22:33445000-33451600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr22:33446600-33449000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
4	chr22:33446600-33449000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr22:33446600-33449000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr22:33447400-33449600	Active TSS	Fetal Brain Female	brain
7	chr22:33447400-33450800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr22:33447600-33448800	Active TSS	Brain Germinal Matrix	brain
9	chr22:33447800-33448800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
10	chr22:33447800-33450000	Flanking Active TSS	HepG2	liver
11	chr22:33448000-33448800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr22:33448000-33448800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr22:33448000-33448800	Active TSS	Brain Angular Gyrus	brain
14	chr22:33448200-33448800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
15	chr22:33448200-33448800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
16	chr22:33448200-33448800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr22:33448200-33449000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr22:33448200-33449000	Flanking Active TSS	Fetal Brain Male	brain
19	chr22:33448400-33448800	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr22:33448400-33448800	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr22:33448400-33448800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr22:33448600-33448800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr22:33448600-33448800	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr22:33448600-33448800	Bivalent Enhancer	Fetal Kidney	kidney
25	chr22:33448600-33449200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr22:33448600-33449400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr22:33448600-33450400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr22:33448600-33452800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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