Variant report

Variant	rs130525
Chromosome Location	chr22:33158917-33158918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32920308-32927723..22:33154607-33167707	H1-hESC	embryonic stem cell:	embryo
2	22:32578360-32590642..22:33154607-33167707	K562	blood:
3	22:32342898-32343477..22:33154607-33167707	Hela-S3	cervix:
4	22:32764253-32784733..22:33154607-33167707	K562	blood:
5	22:32053085-32061138..22:33154607-33167707	K562	blood:
6	22:33154607-33167707..22:33262063-33266567	Hela-S3	cervix:
7	22:33154607-33167707..22:33339333-33353583	Hela-S3	cervix:
8	22:32292186-32294405..22:33154607-33167707	K562	blood:
9	22:32594665-32606395..22:33154607-33167707	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
ENSG00000254127	Chromatin interaction
ENSG00000243519	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000205853	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000128253	Chromatin interaction
ENSG00000230736	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000232218	Chromatin interaction
ENSG00000241954	Chromatin interaction
ENSG00000242082	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1018790	0.85[ASN][1000 genomes]
rs1018792	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11089594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs130269	0.83[AMR][1000 genomes]
rs130270	0.83[AMR][1000 genomes]
rs130275	0.82[AMR][1000 genomes]
rs130276	0.82[AMR][1000 genomes]
rs130287	0.82[AMR][1000 genomes]
rs130530	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs130532	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs130533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs130538	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs130548	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs130551	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs130559	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs130560	0.87[AMR][1000 genomes]
rs135149	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1962223	0.83[AMR][1000 genomes]
rs2413148	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4322932	0.92[ASN][1000 genomes]
rs4635627	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4821094	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4821095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4821096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5754251	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5754253	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs5994618	0.83[ASN][1000 genomes]
rs5994619	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5998616	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5998622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72487604	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs762887	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs80269	0.87[AMR][1000 genomes]
rs929013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs929014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9606991	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9606992	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9606993	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9609622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9609623	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9609631	0.87[AMR][1000 genomes];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	nsv1064719	chr22:33028891-33159636	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33151000-33175400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr22:33155000-33161400	Enhancers	Right Atrium	heart
3	chr22:33156200-33160600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr22:33156200-33161400	Enhancers	Adipose Nuclei	Adipose
5	chr22:33156400-33159000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr22:33156400-33160200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr22:33156400-33161600	Enhancers	Spleen	Spleen
8	chr22:33157200-33159600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr22:33157200-33160400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr22:33157400-33159000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr22:33157600-33160400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr22:33157600-33160400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr22:33157800-33159600	Weak transcription	Fetal Thymus	thymus
14	chr22:33157800-33160200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr22:33157800-33160200	Weak transcription	Fetal Kidney	kidney
16	chr22:33157800-33160200	Weak transcription	Fetal Lung	lung
17	chr22:33157800-33160400	Weak transcription	NHDF-Ad	bronchial
18	chr22:33158000-33159000	Enhancers	Right Ventricle	heart
19	chr22:33158200-33159400	Weak transcription	Psoas Muscle	Psoas
20	chr22:33158200-33159800	Weak transcription	Fetal Stomach	stomach
21	chr22:33158200-33160200	Weak transcription	NHLF	lung
22	chr22:33158200-33160400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr22:33158200-33160400	Weak transcription	Esophagus	oesophagus
24	chr22:33158200-33160600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr22:33158400-33159200	Enhancers	Hela-S3	cervix
26	chr22:33158400-33159600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr22:33158400-33159600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr22:33158400-33159800	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr22:33158400-33160200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr22:33158400-33160200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr22:33158400-33160400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr22:33158400-33160400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr22:33158400-33160400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr22:33158400-33160400	Weak transcription	NH-A	brain
35	chr22:33158400-33171800	Weak transcription	HepG2	liver
36	chr22:33158600-33160000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr22:33158800-33159200	Weak transcription	Placenta	Placenta
38	chr22:33158800-33159600	Weak transcription	Left Ventricle	heart
39	chr22:33158800-33159800	Weak transcription	Lung	lung
40	chr22:33158800-33160200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr22:33158800-33160200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr22:33158800-33160200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr22:33158800-33160200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr22:33158800-33160200	Weak transcription	Osteobl	bone
45	chr22:33158800-33160400	Weak transcription	HSMM	muscle
46	chr22:33158800-33160400	Weak transcription	HSMMtube	muscle

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