Variant report

Variant	rs980042
Chromosome Location	chr1:175864147-175864148
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:175863119..175864741-chr1:175868624..175870668,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10494494	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11589284	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11801399	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57854154	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59730493	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60798496	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6681342	0.82[JPT][hapmap]
rs72711161	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713224	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73046259	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73046262	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73046263	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73046265	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73046266	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33328	chr1:175446583-175910001	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv872560	chr1:175648631-175869554	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175855000-175870600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:175855200-175879400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:175855400-175869200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:175855400-175879400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:175857200-175875800	Weak transcription	Brain Germinal Matrix	brain
6	chr1:175857600-175879400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:175858200-175879400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:175858600-175864600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:175858800-175876800	Weak transcription	HSMM	muscle
10	chr1:175858800-175879400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:175858800-175879400	Weak transcription	HSMMtube	muscle
12	chr1:175859200-175879400	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:175861200-175864600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:175862400-175864800	Enhancers	Fetal Intestine Large	intestine
15	chr1:175862400-175879400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:175862600-175864400	Enhancers	Fetal Intestine Small	intestine
17	chr1:175863000-175871600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:175863200-175906400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:175863400-175879400	Weak transcription	Primary T cells from cord blood	blood
20	chr1:175863800-175864400	Weak transcription	Fetal Brain Female	brain

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