Variant report

Variant	rs11671185
Chromosome Location	chr19:41665044-41665045
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	chr19:41664966..41667782-chr19:41768471..41770752,2	K562	blood:

Variant related genes	Relation type
ENSG00000105323	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1645685	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1645686	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1709116	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1709124	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1709125	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2432221	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2458634	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs305954	0.80[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs305955	0.83[ASN][1000 genomes]
rs305956	0.83[ASN][1000 genomes]
rs305960	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs305961	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs305962	0.81[AMR][1000 genomes];0.96[EUR][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	esv3391909	chr19:41632754-41688263	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11671185	LTBP4	cis	lymphoblastoid	seeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41662600-41678200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr19:41663400-41668000	Enhancers	Fetal Intestine Large	intestine
3	chr19:41663800-41666600	Enhancers	Fetal Intestine Small	intestine
4	chr19:41664200-41675600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:41664400-41666000	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr19:41664600-41666600	Enhancers	Stomach Mucosa	stomach
7	chr19:41664800-41665800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr19:41665000-41665200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
9	chr19:41665000-41665200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr19:41665000-41665200	Enhancers	Gastric	stomach
11	chr19:41665000-41665200	Flanking Active TSS	Hela-S3	cervix
12	chr19:41665000-41665400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr19:41665000-41665400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr19:41665000-41665400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr19:41665000-41665400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr19:41665000-41665400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr19:41665000-41665400	Enhancers	Placenta	Placenta
18	chr19:41665000-41665400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr19:41665000-41665400	Flanking Active TSS	A549	lung
20	chr19:41665000-41665400	Flanking Active TSS	HepG2	liver
21	chr19:41665000-41665400	Flanking Active TSS	K562	blood
22	chr19:41665000-41665800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr19:41665000-41666400	Enhancers	Rectal Mucosa Donor 31	rectum

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