Variant report

Variant	rs4144522
Chromosome Location	chr5:15550687-15550688
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10065073	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10085170	0.84[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10474717	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs10475067	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12516651	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13185365	0.89[CHB][hapmap];0.90[CHD][hapmap];0.87[JPT][hapmap];0.95[ASN][1000 genomes]
rs6861983	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6862606	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6879834	0.92[CEU][hapmap];0.89[CHB][hapmap];0.87[CHD][hapmap];0.80[GIH][hapmap];0.87[JPT][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6889573	0.88[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7732619	0.91[CEU][hapmap]
rs9312891	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9312892	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9312896	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516929	chr5:15087791-15870300	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1023068	chr5:15095221-15863583	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv869040	chr5:15097602-15866117	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv530222	chr5:15151662-15851485	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15512200-15571200	Weak transcription	HUVEC	blood vessel
2	chr5:15524000-15558600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:15536400-15561400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:15539800-15551200	Weak transcription	Fetal Brain Female	brain
5	chr5:15540600-15555000	Weak transcription	HSMMtube	muscle
6	chr5:15540800-15554600	Weak transcription	HSMM	muscle
7	chr5:15541000-15558600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr5:15541400-15550800	Weak transcription	Fetal Brain Male	brain
9	chr5:15544600-15563400	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:15545000-15550800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:15545000-15550800	Weak transcription	Brain Anterior Caudate	brain
12	chr5:15545200-15557600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:15547600-15550800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr5:15547800-15554000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:15547800-15557600	Weak transcription	Right Ventricle	heart
16	chr5:15548000-15550800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr5:15548000-15553800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:15548200-15554000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:15548200-15557800	Weak transcription	Left Ventricle	heart
20	chr5:15548600-15557600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:15549000-15550800	Enhancers	Fetal Heart	heart
22	chr5:15549400-15551800	Enhancers	Ovary	ovary
23	chr5:15549600-15551400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr5:15549600-15551400	Enhancers	Aorta	Aorta
25	chr5:15549800-15551400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr5:15549800-15551400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr5:15549800-15551600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr5:15549800-15551600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr5:15549800-15551600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:15549800-15551600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr5:15549800-15552000	Enhancers	Fetal Stomach	stomach
32	chr5:15550000-15551400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr5:15550000-15551400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr5:15550000-15551400	Enhancers	Right Atrium	heart
35	chr5:15550000-15551600	Enhancers	Esophagus	oesophagus
36	chr5:15550000-15551600	Enhancers	Fetal Lung	lung
37	chr5:15550200-15551000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr5:15550200-15551400	Enhancers	H9 Cell Line	embryonic stem cell
39	chr5:15550200-15551600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:15550400-15550800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:15550400-15551200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:15550400-15551400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr5:15550400-15551400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:15550400-15551400	Enhancers	Brain Hippocampus Middle	brain
45	chr5:15550400-15551400	Enhancers	Fetal Muscle Leg	muscle
46	chr5:15550400-15552200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:15550600-15550800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:15550600-15551200	Weak transcription	Adipose Nuclei	Adipose
49	chr5:15550600-15551200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr5:15550600-15551400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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