Variant report

Variant	rs72901320
Chromosome Location	chr18:39855541-39855542
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10502781	0.82[AMR][1000 genomes]
rs12457400	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12458223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17609320	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56145428	0.85[AMR][1000 genomes]
rs7228908	0.82[AMR][1000 genomes]
rs722959	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs722960	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72899316	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72899317	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72899323	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72899324	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72901312	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8088748	0.90[AMR][1000 genomes];0.96[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	nsv949609	chr18:39126941-40070286	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv34153	chr18:39398768-39872265	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1059409	chr18:39711099-40139446	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1063343	chr18:39760943-39898498	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
5	nsv1059553	chr18:39828781-39872695	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39852200-39857000	Weak transcription	Fetal Kidney	kidney
2	chr18:39854200-39855800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr18:39854400-39855800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr18:39854600-39855600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr18:39854600-39855600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr18:39854600-39855600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr18:39854600-39855600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr18:39854600-39855600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr18:39854600-39855800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr18:39854600-39855800	Enhancers	Brain Hippocampus Middle	brain
11	chr18:39854600-39857200	Enhancers	Fetal Intestine Small	intestine
12	chr18:39854800-39855600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr18:39854800-39855600	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr18:39854800-39855800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr18:39854800-39855800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr18:39854800-39855800	Enhancers	Brain Cingulate Gyrus	brain
17	chr18:39854800-39855800	Enhancers	Brain Substantia Nigra	brain
18	chr18:39854800-39855800	Enhancers	Ovary	ovary
19	chr18:39854800-39855800	Enhancers	Small Intestine	intestine
20	chr18:39854800-39856000	Enhancers	Adipose Nuclei	Adipose
21	chr18:39854800-39857000	Enhancers	Fetal Intestine Large	intestine
22	chr18:39855000-39855600	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr18:39855000-39855800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr18:39855000-39855800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr18:39855000-39856400	Enhancers	Fetal Heart	heart
26	chr18:39855000-39857200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr18:39855200-39855600	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr18:39855200-39855800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr18:39855200-39855800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr18:39855200-39855800	Enhancers	Right Atrium	heart
31	chr18:39855200-39856200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr18:39855200-39856600	Enhancers	Left Ventricle	heart
33	chr18:39855200-39866000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr18:39855400-39858800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr18:39855400-39859000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr18:39855400-39859000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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