Variant report

Variant	rs72591428
Chromosome Location	chr7:19733379-19733380
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:19733366..19735226-chr7:19735376..19737263,2	K562	blood:
2	chr7:19733161..19734687-chr7:19743842..19746576,2	K562	blood:
3	chr7:19733161..19736088-chr7:19743842..19746226,2	K562	blood:
4	chr7:19731441..19734937-chr7:19746529..19749489,4	K562	blood:

Variant related genes	Relation type
ENSG00000105849	Chromatin interaction
ENSG00000265932	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11771348	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12532153	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12534757	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12536835	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12667862	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17141738	0.86[EUR][1000 genomes]
rs4620176	0.89[EUR][1000 genomes]
rs59113291	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61223965	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67568939	0.80[ASN][1000 genomes]
rs67733453	0.80[ASN][1000 genomes]
rs6962595	0.82[ASN][1000 genomes]
rs72591413	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72591414	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72591424	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72591425	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72591431	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7803245	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9690344	0.91[EUR][1000 genomes];0.80[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	nsv1018601	chr7:19272360-20008881	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1033223	chr7:19682192-20461375	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv538795	chr7:19682192-20461375	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv524807	chr7:19714156-19803925	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19729400-19737000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr7:19729400-19739800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr7:19729600-19736000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:19729800-19737000	Weak transcription	K562	blood
5	chr7:19729800-19745000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:19730400-19735400	Weak transcription	HSMM	muscle
7	chr7:19730400-19736600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:19730400-19738000	Weak transcription	Left Ventricle	heart
9	chr7:19730400-19747400	Weak transcription	HSMMtube	muscle
10	chr7:19730600-19733400	Weak transcription	NHDF-Ad	bronchial
11	chr7:19730600-19736600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:19730600-19736800	Weak transcription	Hela-S3	cervix
13	chr7:19731000-19736800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:19731000-19746000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:19731600-19746400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:19732200-19743400	Weak transcription	Esophagus	oesophagus
17	chr7:19732400-19737600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:19732400-19737600	Weak transcription	Placenta	Placenta
19	chr7:19732400-19745400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:19732600-19736400	Weak transcription	Fetal Thymus	thymus
21	chr7:19732600-19736600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr7:19732600-19737000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:19732600-19747000	Weak transcription	Pancreas	Pancrea
24	chr7:19733000-19745600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:19733000-19747400	Weak transcription	Spleen	Spleen
26	chr7:19733200-19735000	Weak transcription	Dnd41	blood
27	chr7:19733200-19735600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr7:19733200-19736400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr7:19733200-19736600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr7:19733200-19737600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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