Variant report

Variant	rs5998647
Chromosome Location	chr22:33254339-33254340
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:32750950-32761732..22:33253287-33262063	Hela-S3	cervix:
2	22:32544939-32549151..22:33253287-33262063	Hela-S3	cervix:
3	22:32868055-32872511..22:33253287-33262063	Hela-S3	cervix:
4	22:31961151-31976153..22:33253287-33262063	K562	blood:
5	22:32920308-32927723..22:33253287-33262063	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000128276	Chromatin interaction
ENSG00000100225	Chromatin interaction
ENSG00000205856	Chromatin interaction
ENSG00000271093	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000205853	Chromatin interaction
ENSG00000185666	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]
rs16991417	1.00[AMR][1000 genomes]
rs16991442	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]
rs58394026	1.00[AMR][1000 genomes]
rs58627239	1.00[AMR][1000 genomes]
rs58709981	1.00[AMR][1000 genomes]
rs60903857	1.00[AMR][1000 genomes]
rs73881773	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	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	1.00[AMR][1000 genomes]
rs8142286	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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33222600-33258800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr22:33227000-33272400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr22:33236200-33259000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr22:33237400-33282200	Weak transcription	Fetal Brain Female	brain
5	chr22:33238400-33259200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr22:33241600-33257800	Strong transcription	HepG2	liver
7	chr22:33241600-33258400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr22:33243400-33257600	Weak transcription	Fetal Brain Male	brain
9	chr22:33243400-33260200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr22:33243800-33255800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr22:33244200-33262000	Weak transcription	Brain Germinal Matrix	brain
12	chr22:33244800-33257800	Strong transcription	NH-A	brain
13	chr22:33245000-33258800	Weak transcription	Pancreas	Pancrea
14	chr22:33245400-33258800	Strong transcription	HSMM	muscle
15	chr22:33245600-33265000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr22:33245800-33264800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr22:33247000-33258400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr22:33247400-33257600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr22:33247800-33260200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr22:33248000-33258400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr22:33248600-33257400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr22:33248800-33255800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr22:33249400-33254400	Weak transcription	Fetal Thymus	thymus
24	chr22:33249400-33257800	Weak transcription	Small Intestine	intestine
25	chr22:33249400-33258600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr22:33249600-33259000	Strong transcription	Fetal Stomach	stomach
27	chr22:33249800-33258200	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr22:33249800-33258800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr22:33249800-33262800	Weak transcription	Brain Angular Gyrus	brain
30	chr22:33250200-33257400	Genic enhancers	Right Ventricle	heart
31	chr22:33250400-33258800	Strong transcription	Osteobl	bone
32	chr22:33250600-33258800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr22:33250800-33255800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr22:33250800-33258400	Strong transcription	Spleen	Spleen
35	chr22:33251000-33256600	Strong transcription	Lung	lung
36	chr22:33251000-33257200	Strong transcription	Fetal Muscle Leg	muscle
37	chr22:33251000-33257400	Weak transcription	Esophagus	oesophagus
38	chr22:33251000-33257800	Strong transcription	NHDF-Ad	bronchial
39	chr22:33251400-33257600	Weak transcription	Brain Substantia Nigra	brain
40	chr22:33251400-33259000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr22:33251400-33259000	Strong transcription	Stomach Smooth Muscle	stomach
42	chr22:33251400-33259400	Weak transcription	Right Atrium	heart
43	chr22:33251600-33258400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr22:33251600-33258600	Strong transcription	Adipose Nuclei	Adipose
45	chr22:33251600-33259000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr22:33252000-33255200	Genic enhancers	Fetal Heart	heart
47	chr22:33252000-33256800	Genic enhancers	Placenta	Placenta
48	chr22:33252200-33257800	Strong transcription	NHLF	lung
49	chr22:33252400-33259200	Strong transcription	Left Ventricle	heart
50	chr22:33252400-33259200	Weak transcription	Psoas Muscle	Psoas

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