Variant report

Variant	rs6534147
Chromosome Location	chr4:120543285-120543286
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10012485	0.82[EUR][1000 genomes]
rs10021460	0.81[EUR][1000 genomes]
rs10022664	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10518335	0.82[EUR][1000 genomes]
rs12502511	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12503853	0.80[EUR][1000 genomes]
rs12642735	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12646525	0.81[EUR][1000 genomes]
rs12648259	0.81[EUR][1000 genomes]
rs13115778	0.82[EUR][1000 genomes]
rs1987179	0.82[EUR][1000 genomes]
rs2389863	0.81[EUR][1000 genomes]
rs2389864	0.82[EUR][1000 genomes]
rs2389866	0.82[EUR][1000 genomes]
rs2389869	0.82[EUR][1000 genomes]
rs28382361	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28412979	0.82[EUR][1000 genomes]
rs28564258	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28566610	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28625289	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28650385	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2892867	0.82[EUR][1000 genomes]
rs2928993	0.80[EUR][1000 genomes]
rs3733526	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3756154	0.82[EUR][1000 genomes]
rs3756157	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4597811	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4626181	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4833622	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4834784	0.81[EUR][1000 genomes]
rs6534146	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6834347	0.81[EUR][1000 genomes]
rs6842674	0.82[EUR][1000 genomes]
rs6847164	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7659250	0.82[EUR][1000 genomes]
rs7670921	0.82[EUR][1000 genomes]
rs7672961	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7681796	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7684899	0.82[EUR][1000 genomes]
rs9998919	0.82[EUR][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

No data

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	chr4:120542600-120543600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:120542600-120543600	Strong transcription	Osteobl	bone
26	chr4:120542600-120544000	Weak transcription	NHLF	lung
27	chr4:120542600-120544200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr4:120542600-120545200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr4:120542600-120547800	Weak transcription	Small Intestine	intestine
30	chr4:120542800-120544200	Weak transcription	Colon Smooth Muscle	Colon
31	chr4:120542800-120544200	Weak transcription	Fetal Lung	lung
32	chr4:120542800-120544200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr4:120542800-120545000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:120542800-120546600	Weak transcription	Right Atrium	heart
35	chr4:120542800-120547600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr4:120543200-120547000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr4:120543200-120547600	Weak transcription	Pancreas	Pancrea

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