Variant report

Variant	rs927387
Chromosome Location	chr14:70053127-70053128
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70051891..70054400-chr14:70161480..70163976,2	K562	blood:
2	chr14:70052822..70055653-chr17:57919010..57921977,2	MCF-7	breast:
3	chr14:70050809..70053734-chr14:70194375..70196806,2	K562	blood:
4	chr14:70050885..70055359-chr14:70192126..70194708,6	MCF-7	breast:
5	chr14:70053058..70053596-chr14:70193303..70194031,2	K562	blood:

Variant related genes	Relation type
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10145804	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17764280	0.86[CEU][hapmap];0.84[CHB][hapmap]
rs2025132	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2025133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2332094	0.92[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs4899300	0.83[ASN][1000 genomes]
rs4899301	0.93[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4899303	0.90[EUR][1000 genomes]
rs4899304	0.93[CEU][hapmap];0.81[CHB][hapmap];0.90[EUR][1000 genomes]
rs4899305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4902730	0.83[ASN][1000 genomes]
rs4902733	0.83[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs4902734	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4902738	0.94[CEU][hapmap];0.80[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4902739	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6573892	0.90[EUR][1000 genomes]
rs6573893	0.93[CEU][hapmap];0.89[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6573894	0.93[CEU][hapmap];0.89[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7140978	0.87[CEU][hapmap];0.89[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7142221	0.82[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs7143193	0.86[ASN][1000 genomes]
rs7147881	0.87[CEU][hapmap];0.89[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7494244	0.94[CEU][hapmap];0.80[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8006991	0.92[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs9323528	0.85[ASN][1000 genomes]
rs9788506	0.91[EUR][1000 genomes];0.88[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	nsv1335	chr14:70036126-70062584	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr14:70041600-70060400	Weak transcription	Esophagus	oesophagus
2	chr14:70043800-70067200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:70047400-70053600	Weak transcription	Stomach Mucosa	stomach
4	chr14:70048600-70053400	Weak transcription	Left Ventricle	heart
5	chr14:70049800-70053400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr14:70049800-70055600	Weak transcription	Hela-S3	cervix
7	chr14:70051600-70058000	Weak transcription	Fetal Brain Female	brain
8	chr14:70052200-70053400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr14:70052200-70054200	Weak transcription	Pancreas	Pancrea
10	chr14:70052200-70054600	Enhancers	HUVEC	blood vessel
11	chr14:70052400-70053400	Weak transcription	Lung	lung
12	chr14:70052400-70054400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr14:70052600-70053200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr14:70052600-70053400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:70052600-70054400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr14:70052800-70053400	Weak transcription	Right Atrium	heart
17	chr14:70052800-70054000	Enhancers	Adipose Nuclei	Adipose
18	chr14:70053000-70053600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:70053000-70054400	Enhancers	Fetal Muscle Leg	muscle
20	chr14:70053000-70054600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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