Variant report

Variant	rs75470047
Chromosome Location	chr22:33372756-33372757
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32292186-32294405..22:33368625-33375969	K562	blood:
2	22:32868055-32872511..22:33368625-33375969	K562	blood:
3	22:32053085-32061138..22:33368625-33375969	Hela-S3	cervix:
4	22:32920308-32927723..22:33368625-33375969	H1-hESC	embryonic stem cell:	embryo
5	22:32594665-32606395..22:33368625-33375969	K562	blood:

Variant related genes	Relation type
ENSG00000242082	Chromatin interaction
ENSG00000128253	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000254127	Chromatin interaction
ENSG00000100225	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	esv3345613	chr22:33372300-33372784	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33314000-33380800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:33348000-33382400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:33354000-33374000	Weak transcription	Brain Angular Gyrus	brain
4	chr22:33354400-33381800	Weak transcription	Fetal Brain Male	brain
5	chr22:33354600-33387400	Weak transcription	Fetal Brain Female	brain
6	chr22:33361000-33380400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr22:33365800-33373800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr22:33368800-33381800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr22:33369000-33376800	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr22:33370400-33373400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr22:33371400-33375400	Weak transcription	HepG2	liver
12	chr22:33372000-33376400	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr22:33372000-33376800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr22:33372200-33374400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr22:33372400-33373000	Enhancers	H9 Cell Line	embryonic stem cell
16	chr22:33372400-33373200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr22:33372400-33374000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr22:33372600-33373000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr22:33372600-33373200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr22:33372600-33373200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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