Variant report

Variant	rs4802193
Chromosome Location	chr19:44206291-44206292
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44171751..44174773-chr19:44205887..44208800,3	K562	blood:
2	chr19:44197205..44200210-chr19:44204292..44207162,3	MCF-7	breast:
3	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]
rs13344919	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28468406	0.87[ASN][1000 genomes]
rs28677840	0.85[ASN][1000 genomes]
rs4802190	0.85[ASN][1000 genomes]
rs4802191	0.87[ASN][1000 genomes]
rs4802192	0.87[ASN][1000 genomes]
rs520130	0.85[ASN][1000 genomes]
rs59684608	0.87[ASN][1000 genomes]
rs73560528	0.87[EUR][1000 genomes];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:25 , 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	chr19:44204400-44207000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:44204600-44207200	Weak transcription	HSMMtube	muscle
4	chr19:44205000-44207000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:44205000-44207200	Weak transcription	HSMM	muscle
6	chr19:44205200-44206800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:44205200-44206800	Weak transcription	Gastric	stomach
8	chr19:44205200-44207200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr19:44205800-44207000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr19:44205800-44207200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr19:44205800-44207200	Weak transcription	HepG2	liver
12	chr19:44205800-44208400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr19:44205800-44210200	Weak transcription	Thymus	Thymus
14	chr19:44206000-44206400	Enhancers	A549	lung
15	chr19:44206000-44206600	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr19:44206000-44206800	Enhancers	Hela-S3	cervix
17	chr19:44206000-44206800	Enhancers	K562	blood
18	chr19:44206000-44207200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr19:44206000-44207200	Weak transcription	Lung	lung
20	chr19:44206000-44207200	Weak transcription	Osteobl	bone
21	chr19:44206000-44207400	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr19:44206000-44208400	Weak transcription	Colonic Mucosa	Colon
23	chr19:44206000-44208400	Weak transcription	HUVEC	blood vessel
24	chr19:44206000-44209400	Weak transcription	Right Atrium	heart
25	chr19:44206200-44206600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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