Variant report

No.	Distal block	Cell Line	Cell type
1	chr19:44217861..44220552-chr19:44222419..44224143,2	MCF-7	breast:
2	chr19:44220970..44223411-chr19:44227786..44231306,3	K562	blood:
3	chr19:44221058..44223411-chr19:44229806..44231689,2	K562	blood:
4	chr19:44221170..44223273-chr19:44235703..44237579,2	K562	blood:
5	chr19:44221897..44223971-chr19:44228023..44231254,3	MCF-7	breast:
6	chr19:44221361..44223172-chr19:44251120..44252721,2	K562	blood:

Variant related genes	Relation type
ENSG00000124449	Chromatin interaction
ENSG00000105771	Chromatin interaction

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs168310	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976816	1.00[CHB][hapmap]
rs16976817	1.00[CHB][hapmap]
rs2307187	1.00[CHB][hapmap]
rs2682588	1.00[CHB][hapmap]
rs2854497	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2854510	1.00[CHB][hapmap]
rs3213293	1.00[CHB][hapmap]
rs3213316	1.00[ASN][1000 genomes]
rs3213321	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs3213322	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs3213348	1.00[ASN][1000 genomes]
rs34439296	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34471331	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346048	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs399300	1.00[ASN][1000 genomes]
rs4251895	1.00[ASN][1000 genomes]
rs4251915	1.00[ASN][1000 genomes]
rs4525602	1.00[CHB][hapmap]
rs56204051	1.00[ASN][1000 genomes]
rs57817750	1.00[ASN][1000 genomes]
rs60175550	1.00[ASN][1000 genomes]
rs60273962	1.00[ASN][1000 genomes]
rs60889018	1.00[ASN][1000 genomes]
rs7257640	1.00[ASN][1000 genomes]
rs73554667	1.00[ASN][1000 genomes]
rs73554679	1.00[ASN][1000 genomes]
rs73554696	1.00[ASN][1000 genomes]
rs73556565	1.00[ASN][1000 genomes]
rs73556581	1.00[ASN][1000 genomes]
rs8104645	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8110767	1.00[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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs346049	PRRG2	cis	cerebellum	SCAN
rs346049	GRIN2D	cis	parietal	SCAN
rs346049	DHDH	cis	parietal	SCAN
rs346049	NOVA2	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44216400-44223800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr19:44216800-44223800	Weak transcription	Hela-S3	cervix
3	chr19:44218200-44232600	Weak transcription	A549	lung
4	chr19:44219600-44231600	Weak transcription	Fetal Intestine Small	intestine
5	chr19:44220400-44223400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:44220400-44240400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:44222200-44224400	Enhancers	Placenta Amnion	Placenta Amnion
8	chr19:44222600-44223800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr19:44222800-44232800	Weak transcription	H9 Cell Line	embryonic stem cell

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