Variant report

Variant	rs10914047
Chromosome Location	chr1:180554526-180554527
allele	C/G
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180553221..180556764-chr1:180577641..180580493,4	K562	blood:
2	chr1:180553413..180555386-chr1:180560751..180563747,2	K562	blood:
3	chr1:180551712..180554824-chr1:180555012..180557601,3	K562	blood:
4	chr1:180552648..180554926-chr1:180634516..180636719,2	K562	blood:
5	chr1:180553894..180556357-chr1:181120952..181123883,2	K562	blood:
6	chr1:180530904..180533469-chr1:180554025..180555581,2	MCF-7	breast:
7	chr1:180548462..180550838-chr1:180552772..180555647,2	K562	blood:
8	chr1:180550860..180552393-chr1:180552818..180555669,2	MCF-7	breast:
9	chr1:180550479..180555497-chr1:180560043..180567544,7	K562	blood:
10	chr1:180490294..180492192-chr1:180552011..180554702,2	MCF-7	breast:
11	chr1:180553661..180556688-chr1:180599992..180601805,3	MCF-7	breast:
12	chr1:180552650..180554961-chr1:180564277..180566227,2	K562	blood:
13	chr1:180547494..180549201-chr1:180553238..180555932,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143324	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10798778	0.82[ASN][1000 genomes]
rs10914042	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10914043	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10914046	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2331545	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34569745	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4083947	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6678305	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7527034	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7532437	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7542168	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9943120	0.80[EUR][1000 genomes];0.84[ASN][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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180549200-180555600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:180549400-180554800	Weak transcription	Stomach Mucosa	stomach
3	chr1:180549800-180554800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:180550400-180554800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:180550600-180555800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:180551000-180554600	Weak transcription	HSMMtube	muscle
7	chr1:180551000-180555800	Weak transcription	HSMM	muscle
8	chr1:180551200-180554600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:180551400-180554800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:180553400-180556600	Enhancers	Placenta	Placenta
11	chr1:180553600-180557000	Enhancers	HepG2	liver
12	chr1:180554000-180555200	Flanking Active TSS	Dnd41	blood
13	chr1:180554000-180556000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr1:180554000-180556200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:180554000-180556600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:180554000-180556600	Enhancers	Pancreas	Pancrea
17	chr1:180554000-180557000	Enhancers	HMEC	breast
18	chr1:180554000-180557200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:180554200-180554600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:180554200-180555000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:180554200-180555200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:180554200-180555400	Enhancers	Fetal Thymus	thymus
23	chr1:180554200-180555800	Weak transcription	Esophagus	oesophagus
24	chr1:180554200-180556000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:180554200-180556000	Enhancers	NH-A	brain
26	chr1:180554200-180556600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:180554200-180556800	Enhancers	Osteobl	bone
28	chr1:180554400-180554800	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr1:180554400-180554800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:180554400-180554800	Active TSS	K562	blood
31	chr1:180554400-180554800	Active TSS	NHEK	skin
32	chr1:180554400-180555600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:180554400-180556600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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