Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44173113..44175808-chr19:44190401..44192454,2	MCF-7	breast:
2	chr19:44172814..44174554-chr19:44190309..44192012,2	K562	blood:

Variant related genes	Relation type
ENSG00000011422	Chromatin interaction

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12976220	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1468720	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1966376	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62114134	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73046624	0.87[EUR][1000 genomes]
rs740586	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8107296	0.94[EUR][1000 genomes];0.83[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	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv833839	chr19:44099813-44272299	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44180400-44191000	Weak transcription	Gastric	stomach
2	chr19:44180600-44194200	Weak transcription	Spleen	Spleen
3	chr19:44187600-44192000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr19:44187800-44191000	Weak transcription	A549	lung
5	chr19:44188400-44191000	Weak transcription	Stomach Mucosa	stomach
6	chr19:44189000-44191600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr19:44189000-44191600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr19:44189400-44191200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr19:44190400-44192400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr19:44190400-44192600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr19:44190600-44191000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:44190600-44192000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:44190600-44192200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr19:44190600-44192200	Enhancers	NHEK	skin
15	chr19:44190800-44191000	Enhancers	Hela-S3	cervix
16	chr19:44190800-44191800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr19:44190800-44192000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr19:44190800-44192000	Enhancers	NH-A	brain
19	chr19:44190800-44192200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr19:44190800-44192200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr19:44190800-44192200	Enhancers	HMEC	breast

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