Variant report

Variant	rs12484506
Chromosome Location	chr22:33161295-33161296
allele	C/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 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	chr22:33159150..33161467-chr22:33197718..33199220,2	MCF-7	breast:
5	22:32764253-32784733..22:33154607-33167707	K562	blood:
6	22:32053085-32061138..22:33154607-33167707	K562	blood:
7	22:33154607-33167707..22:33262063-33266567	Hela-S3	cervix:
8	22:33154607-33167707..22:33339333-33353583	Hela-S3	cervix:
9	22:32292186-32294405..22:33154607-33167707	K562	blood:
10	22:32594665-32606395..22:33154607-33167707	H1-hESC	embryonic stem cell:	embryo

No data

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

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10483165	0.94[ASN][1000 genomes]
rs1074421	0.94[ASN][1000 genomes]
rs11703138	0.94[ASN][1000 genomes]
rs11704261	0.82[ASN][1000 genomes]
rs12157546	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12157560	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12484982	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1989438	0.94[ASN][1000 genomes]
rs2013544	0.94[ASN][1000 genomes]
rs57852281	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58237391	0.94[ASN][1000 genomes]
rs5994620	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5994622	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998614	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5998620	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5998623	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5998624	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5998625	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5998626	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998627	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5998629	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6518798	0.94[ASN][1000 genomes]
rs7284103	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7286761	0.94[ASN][1000 genomes]
rs7287602	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7287772	0.94[ASN][1000 genomes]
rs7289956	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7290713	0.94[ASN][1000 genomes]
rs7291454	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73156468	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73156471	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73156473	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73156475	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73156480	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73156483	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73156485	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73156486	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73156494	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73158303	0.94[ASN][1000 genomes]
rs738990	0.94[ASN][1000 genomes]
rs8136169	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8139641	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142064	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142758	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9621568	0.94[ASN][1000 genomes]

No data

Chromatin state (count:45 , 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	chr22:33156200-33161400	Enhancers	Adipose Nuclei	Adipose
4	chr22:33156400-33161600	Enhancers	Spleen	Spleen
5	chr22:33158400-33171800	Weak transcription	HepG2	liver
6	chr22:33159200-33161800	Enhancers	Placenta	Placenta
7	chr22:33159600-33161800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr22:33159600-33161800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr22:33159600-33161800	Enhancers	Left Ventricle	heart
10	chr22:33159600-33162000	Enhancers	Fetal Thymus	thymus
11	chr22:33159800-33161800	Enhancers	Lung	lung
12	chr22:33159800-33162200	Enhancers	Fetal Stomach	stomach
13	chr22:33160000-33161800	Enhancers	Fetal Muscle Trunk	muscle
14	chr22:33160000-33162200	Enhancers	Fetal Muscle Leg	muscle
15	chr22:33160200-33161400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr22:33160200-33161400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr22:33160200-33161400	Enhancers	Hela-S3	cervix
18	chr22:33160200-33161400	Enhancers	Osteobl	bone
19	chr22:33160200-33161600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr22:33160200-33161600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr22:33160200-33161600	Enhancers	Primary hematopoietic stem cells	blood
22	chr22:33160200-33161800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr22:33160200-33161800	Enhancers	Fetal Kidney	kidney
24	chr22:33160200-33161800	Enhancers	Fetal Lung	lung
25	chr22:33160200-33162000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr22:33160200-33162000	Enhancers	Fetal Heart	heart
27	chr22:33160400-33161400	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr22:33160400-33161600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr22:33160400-33161600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr22:33160400-33161600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr22:33160400-33161600	Enhancers	H9 Cell Line	embryonic stem cell
32	chr22:33160400-33161600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr22:33160400-33161600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr22:33160400-33161600	Enhancers	HSMMtube	muscle
35	chr22:33160400-33161800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr22:33160400-33161800	Enhancers	NH-A	brain
37	chr22:33160400-33162000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr22:33160600-33161400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr22:33160600-33161600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr22:33160600-33161600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
41	chr22:33160800-33161400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr22:33160800-33161600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr22:33160800-33161600	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr22:33160800-33162000	Enhancers	Stomach Smooth Muscle	stomach
45	chr22:33161000-33161600	Weak transcription	Right Ventricle	heart

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