Variant report

Variant	rs10914044
Chromosome Location	chr1:180544227-180544228
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180542566..180545271-chr1:180548780..180551129,2	K562	blood:
2	chr1:180530185..180532877-chr1:180542986..180545564,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10798778	0.82[ASN][1000 genomes]
rs10914042	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10914043	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10914046	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2331545	0.82[ASN][1000 genomes]
rs34569745	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4083947	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6678305	0.84[ASN][1000 genomes]
rs7527034	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7542168	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9943120	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv3395059	chr1:180544210-180544268	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180539600-180546200	Weak transcription	Left Ventricle	heart
2	chr1:180541600-180549600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:180541800-180544600	Enhancers	Fetal Intestine Small	intestine
4	chr1:180541800-180544800	Weak transcription	Right Ventricle	heart
5	chr1:180542800-180544400	Enhancers	Fetal Intestine Large	intestine
6	chr1:180543200-180545800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:180543200-180547400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:180543400-180544400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:180543400-180545000	Enhancers	Fetal Heart	heart
10	chr1:180543400-180546400	Weak transcription	Pancreas	Pancrea
11	chr1:180543600-180545200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:180543600-180545200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:180543600-180545200	Enhancers	NHEK	skin
14	chr1:180543800-180544600	Weak transcription	Fetal Brain Male	brain
15	chr1:180543800-180548800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:180544000-180544600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:180544000-180544600	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr1:180544000-180549000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:180544000-180549000	Weak transcription	Stomach Mucosa	stomach
20	chr1:180544200-180544600	Weak transcription	Fetal Lung	lung
21	chr1:180544200-180545000	Weak transcription	K562	blood
22	chr1:180544200-180546000	Weak transcription	Osteobl	bone
23	chr1:180544200-180546200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:180544200-180548800	Weak transcription	HMEC	breast

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