Variant report

Variant	rs130444
Chromosome Location	chr22:32913733-32913734
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32912852-32915608..22:33262063-33266567	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000185666	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1056484	0.87[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12167840	0.80[JPT][hapmap]
rs130445	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs130446	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs135121	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1894450	0.80[CEU][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes]
rs2097312	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2097313	0.82[EUR][1000 genomes]
rs2097314	0.95[AFR][1000 genomes]
rs2413123	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2413127	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4257479	0.82[JPT][hapmap]
rs5754125	0.98[ASN][1000 genomes]
rs73170402	0.85[ASN][1000 genomes]
rs738980	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9619267	0.88[JPT][hapmap]
rs9621475	0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv914981	chr22:32912277-32940660	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32894800-32914200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr22:32895200-32918400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr22:32895400-32914000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr22:32897200-32914200	Weak transcription	Primary T cells from cord blood	blood
5	chr22:32898600-32913800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr22:32898600-32928000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr22:32898800-32927200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr22:32904000-32924400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:32905400-32918600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr22:32907800-32913800	Weak transcription	Fetal Stomach	stomach
11	chr22:32908000-32913800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr22:32908000-32916600	Weak transcription	Brain Substantia Nigra	brain
13	chr22:32908800-32914400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr22:32910200-32925600	Weak transcription	Spleen	Spleen
15	chr22:32910600-32915000	Weak transcription	HepG2	liver
16	chr22:32912000-32914600	Weak transcription	NHDF-Ad	bronchial
17	chr22:32912600-32914000	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr22:32912600-32914200	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr22:32912800-32913800	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr22:32912800-32913800	Strong transcription	Brain Anterior Caudate	brain
21	chr22:32912800-32914000	Strong transcription	Brain Cingulate Gyrus	brain
22	chr22:32912800-32914000	Strong transcription	Brain Hippocampus Middle	brain
23	chr22:32912800-32914200	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr22:32913000-32913800	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr22:32913000-32914000	ZNF genes & repeats	Fetal Muscle Leg	muscle
26	chr22:32913000-32914800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr22:32913200-32913800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr22:32913200-32914000	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr22:32913200-32916600	Weak transcription	Brain Angular Gyrus	brain
30	chr22:32913400-32917000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr22:32913600-32914000	Strong transcription	Adipose Nuclei	Adipose
32	chr22:32913600-32914400	ZNF genes & repeats	Brain Germinal Matrix	brain

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