Variant report

Variant	rs28647788
Chromosome Location	chr7:79850476-79850477
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10234223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10241877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10247757	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10248135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10276981	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10278243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12706718	0.87[ASN][1000 genomes]
rs12721455	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17245731	0.89[ASN][1000 genomes]
rs3801357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4731273	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67096317	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73151419	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1024312	chr7:79832637-80004812	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1029180	chr7:79832637-80017560	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79815200-79859600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:79816400-79854800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:79817000-79851200	Weak transcription	Aorta	Aorta
4	chr7:79820600-79853800	Weak transcription	Left Ventricle	heart
5	chr7:79825400-79856600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:79829200-79853000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr7:79831000-79853800	Weak transcription	Gastric	stomach
8	chr7:79831600-79850800	Weak transcription	Fetal Stomach	stomach
9	chr7:79831800-79861200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:79832400-79855000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:79834000-79850600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr7:79836000-79859600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:79836600-79861000	Weak transcription	HSMMtube	muscle
14	chr7:79840000-79853800	Weak transcription	Brain Anterior Caudate	brain
15	chr7:79840400-79851600	Weak transcription	Small Intestine	intestine
16	chr7:79841200-79853800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr7:79841200-79854000	Weak transcription	Fetal Intestine Small	intestine
18	chr7:79842800-79853600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:79843000-79852600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:79843000-79862800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:79843400-79850800	Weak transcription	Fetal Intestine Large	intestine
22	chr7:79843400-79853200	Weak transcription	Brain Substantia Nigra	brain
23	chr7:79843400-79853800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr7:79843800-79853200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:79843800-79853600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:79844400-79853200	Weak transcription	Brain Germinal Matrix	brain
27	chr7:79844400-79853600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr7:79845800-79850800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr7:79845800-79851400	Weak transcription	Fetal Muscle Leg	muscle
30	chr7:79845800-79853600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr7:79845800-79853800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:79846200-79850600	Weak transcription	Liver	Liver
33	chr7:79846800-79850800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr7:79846800-79861000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:79847000-79853600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr7:79847000-79853800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr7:79847200-79853800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr7:79847200-79853800	Weak transcription	Brain Hippocampus Middle	brain
39	chr7:79847200-79854800	Weak transcription	Fetal Kidney	kidney
40	chr7:79847400-79854400	Weak transcription	NHDF-Ad	bronchial
41	chr7:79847600-79852000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:79848200-79852200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:79848600-79850800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:79848600-79854400	Weak transcription	Osteobl	bone
45	chr7:79848800-79860600	Weak transcription	NHEK	skin
46	chr7:79849000-79851200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:79849000-79853800	Weak transcription	Brain Angular Gyrus	brain
48	chr7:79849000-79854400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr7:79849200-79853600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr7:79849200-79853600	Weak transcription	Placenta	Placenta

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