Variant report

Variant	rs12647259
Chromosome Location	chr4:74481279-74481280
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:74475388..74478250-chr4:74479848..74483850,3	K562	blood:
2	chr4:74475388..74478250-chr4:74479848..74482817,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10009599	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10030350	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10213182	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1074084	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1247602	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1247604	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12641279	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12648230	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1528919	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28489750	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28825382	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28829089	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28831192	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57165686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60755652	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6833774	0.80[ASN][1000 genomes]
rs6842636	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7655717	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs998234	0.96[EUR][1000 genomes];0.89[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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1008104	chr4:74468434-74621952	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74465400-74483000	Weak transcription	Esophagus	oesophagus
2	chr4:74472200-74485600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr4:74472800-74483000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:74474400-74481400	Genic enhancers	Fetal Thymus	thymus
5	chr4:74474800-74483200	Weak transcription	Small Intestine	intestine
6	chr4:74475600-74482600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:74476200-74484400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr4:74476400-74484600	Weak transcription	Fetal Intestine Large	intestine
9	chr4:74476800-74482400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:74477200-74481400	Weak transcription	Fetal Intestine Small	intestine
11	chr4:74477200-74481600	Weak transcription	HepG2	liver
12	chr4:74477400-74482400	Enhancers	HMEC	breast
13	chr4:74477400-74485000	Weak transcription	A549	lung
14	chr4:74478600-74485800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr4:74479400-74485000	Weak transcription	Placenta	Placenta
16	chr4:74480200-74481400	Weak transcription	Pancreas	Pancrea
17	chr4:74480200-74482800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr4:74480200-74485000	Weak transcription	Gastric	stomach
19	chr4:74480400-74481400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:74480600-74481400	Active TSS	Thymus	Thymus
21	chr4:74481000-74481600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr4:74481200-74481400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr4:74481200-74481600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr4:74481200-74481600	Enhancers	Fetal Kidney	kidney
25	chr4:74481200-74481800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:74481200-74481800	Enhancers	Stomach Mucosa	stomach
27	chr4:74481200-74482000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:74481200-74482000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:74481200-74482400	Enhancers	NHEK	skin

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