Variant report

Variant	rs72713846
Chromosome Location	chr1:162061443-162061444
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs16849381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6427653	0.84[ASN][1000 genomes]
rs72713841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72713842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72713843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72713844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72713857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72713901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72713902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72715906	0.86[EUR][1000 genomes]
rs72715962	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72715963	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv464206	chr1:161798239-162067447	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv470744	chr1:161798239-162067447	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv548077	chr1:161798239-162067447	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv831747	chr1:161926367-162103311	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv1821140	chr1:162047541-162389040	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	esv1818566	chr1:162061209-162430009	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:162041400-162063600	Weak transcription	Fetal Stomach	stomach
2	chr1:162051200-162061600	Weak transcription	Brain Germinal Matrix	brain
3	chr1:162052200-162062000	Weak transcription	Fetal Kidney	kidney
4	chr1:162057000-162062800	Weak transcription	Aorta	Aorta
5	chr1:162058200-162062000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:162058600-162061600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:162058800-162061600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:162058800-162063000	Weak transcription	Gastric	stomach
9	chr1:162059000-162061600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:162059000-162061600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:162059000-162063800	Weak transcription	Stomach Mucosa	stomach
12	chr1:162059200-162061600	Weak transcription	Hela-S3	cervix
13	chr1:162060600-162063000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:162060800-162061600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr1:162060800-162063000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr1:162060800-162063200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:162060800-162063200	Enhancers	Liver	Liver
18	chr1:162060800-162064800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr1:162061000-162061600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr1:162061000-162061800	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
21	chr1:162061000-162061800	Enhancers	Fetal Brain Male	brain
22	chr1:162061000-162061800	Flanking Active TSS	HepG2	liver
23	chr1:162061000-162062600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:162061000-162062600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:162061000-162062600	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr1:162061000-162062800	Enhancers	Colon Smooth Muscle	Colon
27	chr1:162061000-162063000	Enhancers	Brain Hippocampus Middle	brain
28	chr1:162061200-162061600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:162061200-162061800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
30	chr1:162061200-162062200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr1:162061400-162061600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:162061400-162061600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
33	chr1:162061400-162061600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr1:162061400-162061800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr1:162061400-162061800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:162061400-162061800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:162061400-162062200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr1:162061400-162062200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:162061400-162062200	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr1:162061400-162062400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:162061400-162062600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr1:162061400-162062600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:162061400-162062600	Enhancers	Rectal Smooth Muscle	rectum
44	chr1:162061400-162063200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:162061400-162063600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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