Variant report

Variant	rs4833622
Chromosome Location	chr4:120546659-120546660
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10012485	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10021460	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10022664	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10518335	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12502511	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12503853	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12642735	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12646525	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12648259	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13115778	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1987179	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2248236	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2389863	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2389864	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2389866	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2389869	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2622499	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2622500	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28382361	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28412979	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28540362	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28564258	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28566610	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28610991	0.84[ASN][1000 genomes]
rs28625289	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28650385	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2892867	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2928993	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2928994	0.83[EUR][1000 genomes]
rs3733526	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3756154	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3756157	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4337718	0.82[EUR][1000 genomes]
rs4597811	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4626181	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4834784	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6534146	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6534147	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6822275	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6834347	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6842674	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6847164	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7659250	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7670921	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7672961	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7681796	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7684899	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9998919	0.89[EUR][1000 genomes];0.88[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4833622	RP11-33B1.1	cis	Thyroid	GTEx

Chromatin state (count:47 , 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	chr4:120526200-120546800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr4:120528400-120547400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:120528600-120547400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr4:120528600-120547600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:120532400-120547600	Weak transcription	Lung	lung
7	chr4:120533600-120547400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:120534000-120547400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:120537000-120547400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:120541400-120547600	Weak transcription	Left Ventricle	heart
11	chr4:120542600-120547800	Weak transcription	Small Intestine	intestine
12	chr4:120542800-120547600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr4:120543200-120547000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr4:120543200-120547600	Weak transcription	Pancreas	Pancrea
15	chr4:120544400-120550600	Active TSS	Aorta	Aorta
16	chr4:120544600-120547400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr4:120544600-120547600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:120544600-120547600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:120544800-120547000	Weak transcription	NH-A	brain
20	chr4:120544800-120550800	Active TSS	Stomach Smooth Muscle	stomach
21	chr4:120545000-120549000	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr4:120545200-120549000	Active TSS	Duodenum Mucosa	Duodenum
23	chr4:120545200-120550400	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr4:120545200-120550600	Active TSS	Colon Smooth Muscle	Colon
25	chr4:120545400-120547600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr4:120545600-120550600	Active TSS	Fetal Kidney	kidney
27	chr4:120545800-120546800	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr4:120545800-120547800	Active TSS	Adipose Nuclei	Adipose
29	chr4:120545800-120550600	Active TSS	Rectal Smooth Muscle	rectum
30	chr4:120546000-120547400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr4:120546000-120547400	Weak transcription	NHDF-Ad	bronchial
32	chr4:120546000-120547800	Weak transcription	Stomach Mucosa	stomach
33	chr4:120546000-120550600	Active TSS	Fetal Lung	lung
34	chr4:120546200-120546800	Weak transcription	Fetal Intestine Large	intestine
35	chr4:120546200-120547400	Weak transcription	Ovary	ovary
36	chr4:120546200-120547600	Active TSS	Fetal Intestine Small	intestine
37	chr4:120546200-120550600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:120546400-120546800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr4:120546400-120547000	Flanking Active TSS	Osteobl	bone
40	chr4:120546400-120550400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:120546600-120546800	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr4:120546600-120546800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:120546600-120547400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr4:120546600-120547600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr4:120546600-120548200	Active TSS	Fetal Stomach	stomach
46	chr4:120546600-120550800	Active TSS	Right Atrium	heart
47	chr4:120546600-120551000	Active TSS	NHLF	lung

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