Variant report

Variant	rs4513554
Chromosome Location	chr4:120491588-120491589
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10027627	0.85[AFR][1000 genomes]
rs10028249	0.81[AFR][1000 genomes]
rs12331968	0.97[AFR][1000 genomes]
rs13119104	0.85[AFR][1000 genomes]
rs13122502	1.00[AFR][1000 genomes]
rs13125819	0.85[AFR][1000 genomes]
rs2257018	0.92[AFR][1000 genomes]
rs2389865	1.00[AFR][1000 genomes]
rs2389867	1.00[AFR][1000 genomes]
rs2389884	0.85[AFR][1000 genomes]
rs2715018	0.92[AFR][1000 genomes]
rs2715020	1.00[AFR][1000 genomes]
rs2715021	0.95[AFR][1000 genomes]
rs2715022	1.00[AFR][1000 genomes]
rs2928991	0.85[AFR][1000 genomes]
rs2953292	1.00[AFR][1000 genomes]
rs4146266	0.85[AFR][1000 genomes]
rs4264816	1.00[AFR][1000 genomes]
rs4834786	0.89[AFR][1000 genomes]
rs4834787	0.81[AFR][1000 genomes]
rs6817738	0.85[AFR][1000 genomes]
rs7439678	0.85[AFR][1000 genomes]
rs7675276	0.86[AFR][1000 genomes]
rs7697823	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv427694	chr4:120250511-120501728	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv879843	chr4:120326323-120502461	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv879846	chr4:120341296-120491714	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv879845	chr4:120341296-120502461	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120377600-120501200	Weak transcription	Pancreas	Pancrea
2	chr4:120459400-120491600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:120478600-120501000	Weak transcription	Fetal Stomach	stomach
4	chr4:120485000-120493000	Weak transcription	Left Ventricle	heart
5	chr4:120485600-120494600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:120485800-120503800	Weak transcription	Aorta	Aorta
7	chr4:120485800-120520000	Weak transcription	Small Intestine	intestine
8	chr4:120486200-120491600	Weak transcription	Fetal Kidney	kidney
9	chr4:120486200-120503800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr4:120486200-120504800	Weak transcription	NH-A	brain
11	chr4:120486400-120491600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr4:120486400-120491800	Weak transcription	Fetal Intestine Large	intestine
13	chr4:120486600-120502800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:120486600-120516600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr4:120486800-120503600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:120486800-120515800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr4:120486800-120516400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr4:120486800-120527600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:120488000-120501000	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:120488200-120492200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr4:120488200-120501200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr4:120488200-120510200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr4:120488400-120504200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:120489200-120492400	Enhancers	Colon Smooth Muscle	Colon
25	chr4:120490200-120492800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:120490800-120492000	Enhancers	Stomach Smooth Muscle	stomach
27	chr4:120490800-120492200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:120490800-120493200	Enhancers	NHDF-Ad	bronchial
29	chr4:120490800-120493400	Enhancers	Osteobl	bone
30	chr4:120491000-120492200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:120491000-120492400	Enhancers	Fetal Lung	lung
32	chr4:120491200-120491600	Enhancers	HSMM	muscle
33	chr4:120491200-120491600	Flanking Active TSS	NHLF	lung
34	chr4:120491200-120492000	Enhancers	Muscle Satellite Cultured Cells	--
35	chr4:120491200-120492000	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr4:120491200-120492200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:120491200-120492400	Enhancers	Rectal Smooth Muscle	rectum
38	chr4:120491400-120491600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:120491400-120491600	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr4:120491400-120491800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:120491400-120491800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:120491400-120491800	Flanking Active TSS	HSMMtube	muscle
43	chr4:120491400-120492000	Enhancers	Ovary	ovary

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