Variant report

Variant	rs135584
Chromosome Location	chr22:32979273-32979274
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr22:32979180-32979330	MCF-7	breast:	n/a	n/a
2	CTCF	chr22:32979213-32979301	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr22:32979140-32979290	HepG2	liver:	n/a	n/a
4	CTCF	chr22:32979200-32979350	RPTEC	kidney:	n/a	n/a
5	CTCF	chr22:32979026-32979488	MCF-7	breast:	n/a	n/a
6	CTCF	chr22:32979160-32979310	HMEC	breast:	n/a	n/a
7	CTCF	chr22:32979147-32979353	MCF-7	breast:	n/a	n/a
8	CTCF	chr22:32979131-32979365	MCF-7	breast:	n/a	n/a
9	CTCF	chr22:32979140-32979290	NHEK	skin:	n/a	n/a
10	RAD21	chr22:32979049-32979521	MCF-7	breast:	n/a	n/a
11	CTCF	chr22:32979138-32979389	MCF-7	breast:	n/a	n/a
12	RAD21	chr22:32978905-32979364	HepG2	liver:	n/a	n/a
13	RAD21	chr22:32979040-32979318	HepG2	liver:	n/a	n/a
14	CTCF	chr22:32979171-32979328	MCF-7	breast:	n/a	n/a
15	CTCF	chr22:32979119-32979360	HepG2	liver:	n/a	n/a
16	SMC3	chr22:32978997-32979413	HepG2	liver:	n/a	n/a
17	RCOR1	chr22:32979096-32979329	HepG2	liver:	n/a	n/a
18	CTCF	chr22:32979200-32979350	HEEpiC	esophagus:	n/a	n/a
19	CTCF	chr22:32979200-32979350	MCF-7	breast:	n/a	n/a
20	STAT1	chr22:32978950-32979640	Hela-S3	cervix:	n/a	chr22:32979215-32979224 chr22:32979216-32979225 chr22:32979314-32979325
21	CTCF	chr22:32979160-32979343	MCF-7	breast:	n/a	n/a
22	CTCF	chr22:32979180-32979330	NHEK	skin:	n/a	n/a
23	CTCF	chr22:32979220-32979370	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr22:32979180-32979330	HRPEpiC	eye:	n/a	n/a
25	CTCF	chr22:32979180-32979330	HepG2	liver:	n/a	n/a
26	CTCF	chr22:32979180-32979330	HMEC	breast:	n/a	n/a
27	RAD21	chr22:32978997-32979499	MCF-7	breast:	n/a	n/a
28	CTCF	chr22:32979216-32979309	HepG2	liver:	n/a	n/a
29	CTCF	chr22:32979135-32979330	NHEK	skin:	n/a	n/a
30	CTCF	chr22:32979220-32979370	HVMF	connective:	n/a	n/a
31	CTCF	chr22:32979175-32979301	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:32977838..32980005-chr22:33196741..33198694,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236054	TF binding region
ENSG00000100234	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs131047	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs135583	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820083	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4821076	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73154334	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73154335	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73154336	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs739104	0.81[CEU][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32971000-32980000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr22:32973000-32979600	Weak transcription	Fetal Heart	heart
3	chr22:32973600-32979400	Weak transcription	Fetal Lung	lung
4	chr22:32974000-32980800	Weak transcription	Left Ventricle	heart
5	chr22:32976400-32979400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr22:32978200-32979400	Enhancers	HepG2	liver
7	chr22:32978600-32979400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr22:32978600-32979400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr22:32978600-32979400	Enhancers	Lung	lung
10	chr22:32978600-32979600	Enhancers	Fetal Muscle Trunk	muscle
11	chr22:32978600-32979600	Enhancers	Spleen	Spleen
12	chr22:32978600-32979800	Enhancers	Fetal Muscle Leg	muscle
13	chr22:32978600-32981400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr22:32978600-32981600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr22:32978600-32981800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr22:32978800-32979400	Enhancers	HSMMtube	muscle
17	chr22:32978800-32981600	Enhancers	Adipose Nuclei	Adipose
18	chr22:32978800-32981800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr22:32978800-32981800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr22:32979000-32979400	Enhancers	Brain Germinal Matrix	brain
21	chr22:32979000-32979800	Enhancers	Fetal Brain Male	brain
22	chr22:32979000-32980400	Enhancers	Liver	Liver
23	chr22:32979000-32981600	Enhancers	Hela-S3	cervix
24	chr22:32979200-32979400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr22:32979200-32979400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr22:32979200-32979600	Enhancers	Right Atrium	heart
27	chr22:32979200-32979600	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr22:32979200-32981000	Weak transcription	Right Ventricle	heart
29	chr22:32979200-32981400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr22:32979200-32981400	Enhancers	NHLF	lung
31	chr22:32979200-32981600	Enhancers	Osteobl	bone

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