Variant report

Variant	rs16991632
Chromosome Location	chr22:33380791-33380792
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:33365795..33367834-chr22:33378280..33381010,2	K562	blood:
2	22:32477762-32487457..22:33380435-33381068	Hela-S3	cervix:
3	chr22:33379303..33380936-chr22:33382275..33384664,2	MCF-7	breast:
4	chr22:33376392..33378226-chr22:33378707..33381448,2	K562	blood:
5	22:32920308-32927723..22:33380435-33381068	K562	blood:

Variant related genes	Relation type
ENSG00000100170	Chromatin interaction
ENSG00000185666	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs55813771	1.00[AFR][1000 genomes]
rs58338477	0.95[AFR][1000 genomes]
rs73881908	0.95[AFR][1000 genomes]
rs73881921	1.00[AFR][1000 genomes]
rs73881937	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:25 , 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	chr22:33354400-33381800	Weak transcription	Fetal Brain Male	brain
4	chr22:33354600-33387400	Weak transcription	Fetal Brain Female	brain
5	chr22:33368800-33381800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr22:33374000-33381800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr22:33374600-33381800	Weak transcription	Brain Angular Gyrus	brain
8	chr22:33374800-33381200	Weak transcription	Lung	lung
9	chr22:33376200-33381800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr22:33376200-33381800	Weak transcription	HepG2	liver
11	chr22:33376200-33382400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr22:33376400-33381800	Weak transcription	Liver	Liver
13	chr22:33376600-33382000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr22:33376800-33381800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr22:33378600-33382000	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr22:33378800-33381400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr22:33380000-33381800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr22:33380200-33381000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr22:33380200-33382200	Enhancers	Stomach Smooth Muscle	stomach
20	chr22:33380400-33381600	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr22:33380400-33381800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
22	chr22:33380400-33383600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr22:33380400-33384000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr22:33380600-33381600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr22:33380600-33381600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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