Variant report

Variant	rs7672519
Chromosome Location	chr4:120544112-120544113
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10518336	0.82[ASN][1000 genomes]
rs10518337	0.86[EUR][1000 genomes]
rs1155577	0.86[EUR][1000 genomes]
rs12648182	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13104219	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1480933	0.85[EUR][1000 genomes]
rs2389873	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2389875	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2622503	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2715016	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2892869	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36173322	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3775842	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41464847	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4834792	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55661135	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56173225	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56843000	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59516282	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59590064	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66887589	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6817317	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72920701	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7678973	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7681980	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1010753	chr4:120429028-120684310	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv537233	chr4:120429028-120684310	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1006572	chr4:120432494-120694243	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7672519	LOC645513	Cis_1M	lymphoblastoid	RTeQTL
rs7672519	FLJ14186///LOC284701///LOC441124///LOC728624	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120518800-120547200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr4:120521000-120544800	Weak transcription	Fetal Intestine Large	intestine
3	chr4:120526200-120546800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr4:120526400-120544200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr4:120528400-120547400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr4:120528600-120547400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr4:120528600-120547600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:120528800-120544200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr4:120528800-120545400	Weak transcription	Fetal Stomach	stomach
10	chr4:120529000-120546600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:120532400-120547600	Weak transcription	Lung	lung
12	chr4:120533000-120544200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr4:120533600-120547400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:120534000-120547400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:120537000-120547400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:120539600-120545000	Weak transcription	Fetal Intestine Small	intestine
17	chr4:120540000-120544600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr4:120540200-120544200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:120540600-120544200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr4:120540600-120544800	Weak transcription	NHDF-Ad	bronchial
21	chr4:120541200-120544400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:120541400-120547600	Weak transcription	Left Ventricle	heart
23	chr4:120541800-120544400	Weak transcription	Aorta	Aorta
24	chr4:120542600-120544200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr4:120542600-120545200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr4:120542600-120547800	Weak transcription	Small Intestine	intestine
27	chr4:120542800-120544200	Weak transcription	Colon Smooth Muscle	Colon
28	chr4:120542800-120544200	Weak transcription	Fetal Lung	lung
29	chr4:120542800-120544200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr4:120542800-120545000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:120542800-120546600	Weak transcription	Right Atrium	heart
32	chr4:120542800-120547600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr4:120543200-120547000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr4:120543200-120547600	Weak transcription	Pancreas	Pancrea
35	chr4:120544000-120544200	Active TSS	NHLF	lung
36	chr4:120544000-120544400	Enhancers	Osteobl	bone
37	chr4:120544000-120544800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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