Variant report

Variant	rs13344919
Chromosome Location	chr19:44207318-44207319
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44171751..44174773-chr19:44205887..44208800,3	K562	blood:
2	chr19:44205707..44208496-chr19:44209820..44212458,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000011422	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13344768	0.85[ASN][1000 genomes]
rs28468406	0.87[ASN][1000 genomes]
rs28677840	0.85[ASN][1000 genomes]
rs4802190	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4802191	0.87[ASN][1000 genomes]
rs4802192	0.87[ASN][1000 genomes]
rs4802193	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs520130	0.85[ASN][1000 genomes]
rs59684608	0.87[ASN][1000 genomes]
rs73560528	0.93[ASN][1000 genomes]
rs740590	0.85[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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44204200-44220200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:44205800-44208400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr19:44205800-44210200	Weak transcription	Thymus	Thymus
4	chr19:44206000-44207400	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr19:44206000-44208400	Weak transcription	Colonic Mucosa	Colon
6	chr19:44206000-44208400	Weak transcription	HUVEC	blood vessel
7	chr19:44206000-44209400	Weak transcription	Right Atrium	heart
8	chr19:44206400-44207600	Flanking Active TSS	A549	lung
9	chr19:44206600-44207800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr19:44206800-44207400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr19:44206800-44207600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr19:44206800-44207800	Flanking Active TSS	Hela-S3	cervix
13	chr19:44207000-44207400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:44207000-44207600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr19:44207000-44207600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr19:44207200-44207400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr19:44207200-44207400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr19:44207200-44207400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr19:44207200-44207400	Enhancers	HSMM	muscle
20	chr19:44207200-44207400	Enhancers	Osteobl	bone
21	chr19:44207200-44207600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr19:44207200-44207600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr19:44207200-44207600	Enhancers	HSMMtube	muscle
24	chr19:44207200-44208400	Enhancers	HepG2	liver

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