Variant report

Variant	rs16991417
Chromosome Location	chr22:33262726-33262727
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:31936958-31958600..22:33262063-33266567	K562	blood:
2	22:32846948-32860159..22:33262063-33266567	Hela-S3	cervix:
3	chr22:33255086..33257693-chr22:33262193..33264201,2	K562	blood:

Variant related genes	Relation type
ENSG00000214093	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000183531	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs16991252	1.00[AMR][1000 genomes]
rs16991442	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35396081	1.00[AMR][1000 genomes]
rs55843131	1.00[AMR][1000 genomes]
rs56283234	1.00[AMR][1000 genomes]
rs57139579	1.00[AMR][1000 genomes]
rs57490118	1.00[AMR][1000 genomes]
rs57620882	1.00[AMR][1000 genomes]
rs57966112	1.00[AMR][1000 genomes]
rs58329553	0.84[AFR][1000 genomes]
rs58394026	1.00[AMR][1000 genomes]
rs58627239	1.00[AMR][1000 genomes]
rs58709981	1.00[AMR][1000 genomes]
rs5998647	1.00[AMR][1000 genomes]
rs60903857	1.00[AMR][1000 genomes]
rs73881787	1.00[AMR][1000 genomes]
rs73881794	1.00[AMR][1000 genomes]
rs73881795	1.00[AMR][1000 genomes]
rs73881801	1.00[AMR][1000 genomes]
rs73881903	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881907	1.00[AMR][1000 genomes]
rs73885104	1.00[AMR][1000 genomes]
rs73885107	1.00[AMR][1000 genomes]
rs73885108	1.00[AMR][1000 genomes]
rs73885115	1.00[AMR][1000 genomes]
rs73885117	1.00[AMR][1000 genomes]
rs73885122	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8142286	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9619287	1.00[AMR][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	nsv3599	chr22:33230106-33274789	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1059368	chr22:33249121-33268782	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33227000-33272400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr22:33237400-33282200	Weak transcription	Fetal Brain Female	brain
3	chr22:33245600-33265000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr22:33245800-33264800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:33249800-33262800	Weak transcription	Brain Angular Gyrus	brain
6	chr22:33255200-33263800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr22:33256000-33263800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr22:33256000-33265200	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr22:33256200-33264800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr22:33256400-33264400	Weak transcription	Brain Hippocampus Middle	brain
11	chr22:33256400-33269400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr22:33256800-33264800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr22:33257800-33264200	Weak transcription	NHDF-Ad	bronchial
14	chr22:33257800-33269600	Weak transcription	Fetal Intestine Small	intestine
15	chr22:33257800-33270000	Weak transcription	Fetal Intestine Large	intestine
16	chr22:33257800-33282000	Weak transcription	HepG2	liver
17	chr22:33258200-33266600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr22:33258400-33262800	Weak transcription	Spleen	Spleen
19	chr22:33258400-33266800	Weak transcription	Aorta	Aorta
20	chr22:33258400-33267200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr22:33259000-33265800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr22:33259000-33270800	Weak transcription	Fetal Lung	lung
23	chr22:33259400-33263400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr22:33259400-33270200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr22:33260200-33263000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr22:33260400-33264800	Weak transcription	Fetal Stomach	stomach
27	chr22:33260800-33264800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr22:33261200-33270400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr22:33261400-33264800	Weak transcription	Placenta	Placenta
30	chr22:33262000-33263000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr22:33262000-33265800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr22:33262200-33264400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr22:33262200-33266600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr22:33262600-33266600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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