Variant report

Variant	rs56283627
Chromosome Location	chr8:58962933-58962934
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:58959136..58960793-chr8:58960961..58963378,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs16922983	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28638177	1.00[EUR][1000 genomes]
rs55808340	1.00[EUR][1000 genomes]
rs59980825	1.00[EUR][1000 genomes]
rs60729123	1.00[EUR][1000 genomes]
rs6471674	1.00[EUR][1000 genomes]
rs6471677	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6471678	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6991594	1.00[AMR][1000 genomes]
rs7003864	1.00[EUR][1000 genomes]
rs73681724	1.00[EUR][1000 genomes]
rs73681726	1.00[EUR][1000 genomes]
rs73681728	1.00[EUR][1000 genomes]
rs73681729	1.00[EUR][1000 genomes]
rs73681746	1.00[EUR][1000 genomes]
rs73681748	1.00[EUR][1000 genomes]
rs73681749	1.00[EUR][1000 genomes]
rs73681772	1.00[EUR][1000 genomes]
rs7835069	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831324	chr8:58844151-59045309	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer 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

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58935600-58988800	Weak transcription	Aorta	Aorta
2	chr8:58944600-58963000	Weak transcription	Stomach Mucosa	stomach
3	chr8:58949400-58966800	Weak transcription	Liver	Liver
4	chr8:58951800-58963000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:58951800-58963200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:58952000-58964200	Weak transcription	Osteobl	bone
7	chr8:58952200-58986400	Weak transcription	Adipose Nuclei	Adipose
8	chr8:58952800-58979600	Weak transcription	HSMMtube	muscle
9	chr8:58954400-58973200	Weak transcription	Psoas Muscle	Psoas
10	chr8:58955000-58963000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:58955200-58974400	Weak transcription	Fetal Brain Male	brain
12	chr8:58956000-58963000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:58956000-58969400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:58958000-58964000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:58958000-58969400	Weak transcription	HSMM	muscle
16	chr8:58958000-58979000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:58958200-58968000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:58959600-58964600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr8:58960000-58963800	Enhancers	Fetal Kidney	kidney
20	chr8:58960400-58963200	Enhancers	Colon Smooth Muscle	Colon
21	chr8:58960600-58963000	Enhancers	Fetal Stomach	stomach
22	chr8:58960800-58963000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:58960800-58963400	Weak transcription	NHLF	lung
24	chr8:58960800-58963800	Weak transcription	HepG2	liver
25	chr8:58960800-58964000	Enhancers	Fetal Heart	heart
26	chr8:58960800-58964200	Enhancers	Ovary	ovary
27	chr8:58961200-58963000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:58961200-58963000	Weak transcription	Placenta	Placenta
29	chr8:58961200-58963000	Weak transcription	Left Ventricle	heart
30	chr8:58961200-58963000	Weak transcription	Right Atrium	heart
31	chr8:58961200-58964000	Enhancers	Brain Anterior Caudate	brain
32	chr8:58961400-58963000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr8:58961400-58963000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr8:58961400-58963200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:58961400-58963200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:58961400-58963400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr8:58961400-58969400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr8:58961600-58963600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr8:58961800-58963200	Weak transcription	Brain Hippocampus Middle	brain
40	chr8:58962000-58968200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:58962200-58963600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:58962200-58964400	Weak transcription	NHDF-Ad	bronchial
43	chr8:58962200-58964600	Enhancers	Fetal Lung	lung
44	chr8:58962400-58964200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:58962600-58963200	Enhancers	Fetal Brain Female	brain
46	chr8:58962600-58963400	Enhancers	Spleen	Spleen
47	chr8:58962800-58963000	Enhancers	Fetal Muscle Leg	muscle
48	chr8:58962800-58963600	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr8:58962800-58963600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr8:58962800-58963800	Enhancers	Brain Cingulate Gyrus	brain

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