Variant report

Variant	rs8137653
Chromosome Location	chr22:33026129-33026130
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:33024320..33026626-chr22:33029132..33033030,5	MCF-7	breast:
2	chr22:32955831..32960274-chr22:33021346..33026373,8	MCF-7	breast:
3	chr22:33015941..33022634-chr22:33022783..33027992,6	MCF-7	breast:
4	chr22:32953953..32955561-chr22:33025472..33027182,2	MCF-7	breast:
5	22:32920308-32927723..22:33024278-33030812	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000251890	Chromatin interaction
ENSG00000185666	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16985304	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs16990851	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16990852	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3788466	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56678072	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs57696440	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57751077	1.00[ASN][1000 genomes]
rs57835387	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59218864	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59354128	1.00[ASN][1000 genomes]
rs59683873	0.92[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs59972896	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7511209	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs8136931	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9621514	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055541	chr22:33006967-33101138	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2762119	chr22:33006967-33101150	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1061824	chr22:33013014-33101138	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv459875	chr22:33025180-33097662	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv588896	chr22:33025180-33097662	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33017000-33027200	Enhancers	Placenta	Placenta
2	chr22:33020600-33030200	Weak transcription	Colon Smooth Muscle	Colon
3	chr22:33022200-33027000	Enhancers	Fetal Stomach	stomach
4	chr22:33023600-33028800	Enhancers	Primary hematopoietic stem cells	blood
5	chr22:33023800-33026400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr22:33023800-33026600	Weak transcription	Thymus	Thymus
7	chr22:33023800-33026800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr22:33025000-33027200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr22:33025000-33028400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr22:33025000-33028800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr22:33025200-33030200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr22:33025200-33030200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr22:33025400-33033200	Weak transcription	Fetal Kidney	kidney
14	chr22:33025600-33026600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr22:33025600-33027800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr22:33025600-33028000	Weak transcription	Lung	lung
17	chr22:33025600-33030200	Weak transcription	Right Atrium	heart
18	chr22:33025800-33026800	Weak transcription	Fetal Lung	lung
19	chr22:33025800-33027600	Weak transcription	HepG2	liver
20	chr22:33025800-33027800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr22:33025800-33028000	Weak transcription	Adipose Nuclei	Adipose
22	chr22:33025800-33028000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr22:33025800-33028000	Weak transcription	Left Ventricle	heart
24	chr22:33025800-33028200	Weak transcription	Fetal Muscle Leg	muscle
25	chr22:33025800-33028200	Weak transcription	Spleen	Spleen
26	chr22:33026000-33029400	Enhancers	Fetal Thymus	thymus

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