Variant report

Variant	rs61809270
Chromosome Location	chr1:180543027-180543028
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180542566..180545271-chr1:180548780..180551129,2	K562	blood:
2	chr1:180470660..180473288-chr1:180541631..180543834,2	MCF-7	breast:
3	chr1:180530185..180532877-chr1:180542986..180545564,3	K562	blood:
4	chr1:180541054..180543559-chr1:180545286..180546828,2	K562	blood:
5	chr1:180535652..180538329-chr1:180539867..180543816,3	K562	blood:

Variant related genes	Relation type
ENSG00000135847	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12565152	0.84[AMR][1000 genomes]
rs1556938	0.85[AMR][1000 genomes]
rs2153327	0.84[AMR][1000 genomes]
rs2331742	0.84[AMR][1000 genomes]
rs41267628	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41267632	1.00[AFR][1000 genomes]
rs41267634	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4652510	0.84[AMR][1000 genomes]
rs61809269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61809271	1.00[AFR][1000 genomes]
rs61809273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61809274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61809275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61809276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61811627	0.84[AMR][1000 genomes]
rs61811628	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61811630	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61811631	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61811635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6425647	0.84[AMR][1000 genomes]
rs6665615	0.84[AMR][1000 genomes]
rs946634	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180536200-180543200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:180538600-180543400	Weak transcription	Fetal Brain Female	brain
3	chr1:180539600-180546200	Weak transcription	Left Ventricle	heart
4	chr1:180540600-180543400	Weak transcription	Fetal Heart	heart
5	chr1:180540600-180543400	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr1:180540800-180543400	Enhancers	Pancreas	Pancrea
7	chr1:180540800-180543600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:180541200-180544000	Enhancers	HepG2	liver
9	chr1:180541600-180543600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:180541600-180549600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:180541800-180543400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:180541800-180544600	Enhancers	Fetal Intestine Small	intestine
13	chr1:180541800-180544800	Weak transcription	Right Ventricle	heart
14	chr1:180542000-180543600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:180542000-180543800	Enhancers	Fetal Brain Male	brain
16	chr1:180542200-180543200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:180542200-180543200	Weak transcription	Stomach Mucosa	stomach
18	chr1:180542200-180543200	Weak transcription	K562	blood
19	chr1:180542200-180543400	Weak transcription	HMEC	breast
20	chr1:180542200-180543600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:180542200-180543600	Weak transcription	NHEK	skin
22	chr1:180542800-180543200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr1:180542800-180544400	Enhancers	Fetal Intestine Large	intestine
24	chr1:180543000-180543200	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr1:180543000-180543600	Enhancers	Rectal Mucosa Donor 31	rectum

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