Variant report

Variant	rs338582
Chromosome Location	chr19:41715586-41715587
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:41710579..41716236-chr19:41767651..41773158,11	K562	blood:
2	chr19:41708734..41715779-chr19:41765259..41771124,12	K562	blood:

Variant related genes	Relation type
ENSG00000105323	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10403675	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10419231	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs168109	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1709138	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs338580	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs338581	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7254545	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[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	nsv911767	chr19:41649516-41716271	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv911768	chr19:41680424-41748753	Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41699600-41724400	Weak transcription	Right Atrium	heart
2	chr19:41700000-41722200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr19:41700000-41724400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr19:41700200-41724200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:41702000-41722400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr19:41707800-41723600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr19:41710200-41716800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:41710400-41722400	Weak transcription	HepG2	liver
9	chr19:41713000-41716800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr19:41713000-41722800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr19:41713200-41724800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr19:41713400-41719400	Weak transcription	NHEK	skin
13	chr19:41713400-41723800	Weak transcription	Esophagus	oesophagus
14	chr19:41713600-41716000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr19:41713600-41716400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr19:41713600-41718800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr19:41713600-41723800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr19:41713800-41716600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr19:41713800-41719400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr19:41713800-41719800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr19:41713800-41722000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr19:41713800-41722400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr19:41713800-41722400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr19:41713800-41722400	Weak transcription	Fetal Intestine Large	intestine
25	chr19:41713800-41722400	Weak transcription	Fetal Muscle Leg	muscle
26	chr19:41713800-41722600	Weak transcription	A549	lung
27	chr19:41713800-41723800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr19:41713800-41723800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr19:41713800-41724200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr19:41713800-41724400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr19:41713800-41724400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr19:41714000-41724400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr19:41714400-41722800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr19:41714600-41722800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr19:41714600-41723600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr19:41714600-41724400	Weak transcription	Fetal Intestine Small	intestine
37	chr19:41714800-41724200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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