Variant report

Variant	rs72915054
Chromosome Location	chr2:54747003-54747004
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs60282658	1.00[AMR][1000 genomes]
rs6709549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6728822	1.00[AMR][1000 genomes]
rs6743400	1.00[AMR][1000 genomes]
rs6743902	1.00[AMR][1000 genomes]
rs72913043	1.00[AMR][1000 genomes]
rs72915014	1.00[AMR][1000 genomes]
rs72915019	1.00[AMR][1000 genomes]
rs72915028	1.00[AMR][1000 genomes]
rs72915040	1.00[AMR][1000 genomes]
rs72918739	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874150	chr2:54684557-54755229	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv874151	chr2:54684557-54761329	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1002611	chr2:54718022-54752839	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv518406	chr2:54723271-54761329	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv2731	chr2:54745069-54790057	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54719000-54751800	Weak transcription	Aorta	Aorta
2	chr2:54730400-54747600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:54732800-54754800	Weak transcription	Fetal Intestine Small	intestine
4	chr2:54737000-54751400	Weak transcription	HUVEC	blood vessel
5	chr2:54737600-54753800	Weak transcription	Fetal Brain Male	brain
6	chr2:54738200-54748200	Weak transcription	Fetal Stomach	stomach
7	chr2:54738200-54751600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:54738400-54751400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:54740400-54747800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:54740400-54751600	Weak transcription	Placenta	Placenta
11	chr2:54740400-54770200	Weak transcription	Esophagus	oesophagus
12	chr2:54740600-54749800	Weak transcription	HepG2	liver
13	chr2:54740600-54753400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:54740600-54761800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:54741000-54748000	Weak transcription	Adipose Nuclei	Adipose
16	chr2:54742400-54747400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:54742400-54748000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:54742600-54747800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:54742800-54750600	Weak transcription	Brain Germinal Matrix	brain
20	chr2:54743400-54748200	Enhancers	Fetal Heart	heart
21	chr2:54743600-54751600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:54744000-54747200	Weak transcription	HSMMtube	muscle
23	chr2:54744000-54777600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:54744400-54748000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:54744400-54751400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr2:54744400-54753400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:54744400-54753400	Weak transcription	Ovary	ovary
28	chr2:54744400-54769600	Weak transcription	Spleen	Spleen
29	chr2:54744600-54748000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:54744600-54753400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:54745000-54748000	Weak transcription	Lung	lung
32	chr2:54745200-54747400	Enhancers	Brain Hippocampus Middle	brain
33	chr2:54745600-54748600	Enhancers	HMEC	breast
34	chr2:54745800-54747400	Enhancers	Brain Angular Gyrus	brain
35	chr2:54746000-54747600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr2:54746000-54748600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:54746200-54747200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:54746200-54747200	Enhancers	H9 Cell Line	embryonic stem cell
39	chr2:54746200-54747200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:54746200-54747200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:54746200-54747200	Enhancers	Fetal Muscle Leg	muscle
42	chr2:54746200-54747400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:54746200-54747400	Enhancers	Right Atrium	heart
44	chr2:54746200-54747800	Enhancers	Right Ventricle	heart
45	chr2:54746200-54748400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr2:54746200-54748800	Enhancers	Left Ventricle	heart
47	chr2:54746200-54749400	Enhancers	NHDF-Ad	bronchial
48	chr2:54746200-54750200	Weak transcription	Fetal Kidney	kidney
49	chr2:54746400-54747200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:54746400-54747400	Enhancers	HUES64 Cell Line	embryonic stem cell

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