Variant report

Variant	rs72630546
Chromosome Location	chr8:39848019-39848020
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:39773539..39775669-chr8:39847101..39849137,2	K562	blood:

Variant related genes	Relation type
ENSG00000131203	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1421215	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888530	0.82[ASN][1000 genomes]
rs72630544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72630551	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72630553	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1033371	chr8:39749437-39899540	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39835200-39853600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:39843000-39853000	Weak transcription	Lung	lung
3	chr8:39845200-39848800	Weak transcription	Pancreas	Pancrea
4	chr8:39847000-39849800	Enhancers	Fetal Muscle Leg	muscle
5	chr8:39847200-39848200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:39847200-39848200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr8:39847200-39848400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr8:39847200-39848600	Enhancers	Adipose Nuclei	Adipose
9	chr8:39847200-39848800	Enhancers	Fetal Stomach	stomach
10	chr8:39847200-39849000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr8:39847200-39849000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:39847200-39851200	Enhancers	Rectal Smooth Muscle	rectum
13	chr8:39847400-39848400	Enhancers	Ovary	ovary
14	chr8:39847400-39849000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:39847400-39849000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr8:39847400-39849000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr8:39847400-39849800	Weak transcription	Right Ventricle	heart
18	chr8:39847600-39848600	Enhancers	Hela-S3	cervix
19	chr8:39847600-39848800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr8:39847600-39849000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr8:39847600-39849000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:39847600-39849000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr8:39847600-39849000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:39847600-39849600	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr8:39847600-39849800	Enhancers	Stomach Smooth Muscle	stomach
26	chr8:39847600-39850000	Enhancers	Liver	Liver
27	chr8:39847600-39851200	Enhancers	Fetal Heart	heart
28	chr8:39847600-39851400	Enhancers	Colon Smooth Muscle	Colon
29	chr8:39847600-39853600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr8:39847800-39848400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:39847800-39848400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr8:39847800-39848400	Flanking Active TSS	A549	lung
33	chr8:39847800-39848800	Weak transcription	Right Atrium	heart
34	chr8:39847800-39849000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:39847800-39849000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:39847800-39849600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:39847800-39851200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:39847800-39854800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr8:39848000-39848600	Enhancers	Duodenum Mucosa	Duodenum
40	chr8:39848000-39848600	Enhancers	Placenta Amnion	Placenta Amnion
41	chr8:39848000-39848600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr8:39848000-39849000	Enhancers	Fetal Lung	lung
43	chr8:39848000-39849000	Enhancers	HSMM	muscle
44	chr8:39848000-39849000	Enhancers	NHLF	lung

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