Variant report

No.	Distal block	Cell Line	Cell type
1	chr7:19731763..19733279-chr7:19737270..19738844,2	K562	blood:
2	chr7:19731441..19734937-chr7:19746529..19749489,4	K562	blood:
3	chr7:19731093..19733268-chr7:19747397..19749038,2	K562	blood:

Variant related genes	Relation type
ENSG00000105849	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11543308	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17141796	0.84[ASN][1000 genomes]
rs2390154	0.81[ASN][1000 genomes]
rs3735616	0.88[ASN][1000 genomes]
rs58056591	0.88[ASN][1000 genomes]
rs60873763	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60983452	0.84[ASN][1000 genomes]
rs61052896	0.88[ASN][1000 genomes]
rs73271979	0.84[ASN][1000 genomes]
rs73272001	0.88[ASN][1000 genomes]
rs73274010	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs73274011	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs73274016	0.88[ASN][1000 genomes]
rs73274017	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs73274019	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs73274023	0.93[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs73274029	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73274032	0.84[ASN][1000 genomes]
rs73274033	0.84[ASN][1000 genomes]
rs73274035	0.84[ASN][1000 genomes]
rs73274039	0.84[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:18 , 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	chr7:19731400-19732200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:19731600-19746400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:19731800-19732400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
18	chr7:19731800-19732400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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