Variant report

Variant	rs2116082
Chromosome Location	chr8:125714397-125714398
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125672966..125675048-chr8:125714283..125716564,2	K562	blood:
2	chr8:125712421..125715090-chr8:125719227..125721768,2	K562	blood:
3	chr8:125713266..125715229-chr8:125826242..125828033,2	K562	blood:
4	chr8:125709363..125711180-chr8:125714341..125716125,2	K562	blood:

Variant related genes	Relation type
ENSG00000255491	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10090511	0.88[EUR][1000 genomes]
rs10956195	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956197	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12543812	0.87[ASN][1000 genomes]
rs3857954	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62530739	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6985856	0.86[ASN][1000 genomes]
rs6986014	0.90[JPT][hapmap]
rs6998715	0.94[AMR][1000 genomes];0.95[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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125701000-125721400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:125701600-125717000	Weak transcription	Thymus	Thymus
3	chr8:125701800-125714800	Weak transcription	NHEK	skin
4	chr8:125702600-125730800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:125702800-125714800	Weak transcription	Fetal Kidney	kidney
6	chr8:125702800-125721400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:125702800-125721400	Weak transcription	Fetal Lung	lung
8	chr8:125703000-125720600	Weak transcription	Fetal Thymus	thymus
9	chr8:125704800-125716600	Strong transcription	Primary B cells from peripheral blood	blood
10	chr8:125705000-125722200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:125705600-125720000	Weak transcription	Lung	lung
12	chr8:125706000-125719000	Weak transcription	Esophagus	oesophagus
13	chr8:125706600-125720800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:125706800-125715600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:125706800-125720400	Weak transcription	Stomach Mucosa	stomach
16	chr8:125707400-125721200	Weak transcription	Primary T cells from cord blood	blood
17	chr8:125708000-125716400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:125708000-125716400	Strong transcription	Liver	Liver
19	chr8:125710200-125716600	Strong transcription	Fetal Intestine Large	intestine
20	chr8:125710400-125714800	Enhancers	Brain Substantia Nigra	brain
21	chr8:125710400-125716600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:125710400-125716800	Strong transcription	HepG2	liver
23	chr8:125710800-125714400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:125710800-125716600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:125711200-125714400	Enhancers	Brain Cingulate Gyrus	brain
26	chr8:125711200-125716400	Strong transcription	Placenta	Placenta
27	chr8:125711600-125714400	Enhancers	Brain Germinal Matrix	brain
28	chr8:125711600-125715000	Enhancers	Psoas Muscle	Psoas
29	chr8:125711600-125718400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr8:125711800-125714600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:125711800-125714600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:125711800-125714600	Enhancers	Brain Hippocampus Middle	brain
33	chr8:125711800-125720200	Weak transcription	K562	blood
34	chr8:125711800-125721400	Weak transcription	Osteobl	bone
35	chr8:125712000-125716000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:125712000-125716200	Weak transcription	NHLF	lung
37	chr8:125712000-125716800	Weak transcription	Fetal Heart	heart
38	chr8:125712000-125717000	Weak transcription	Spleen	Spleen
39	chr8:125712000-125720200	Weak transcription	HSMMtube	muscle
40	chr8:125712000-125720800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr8:125712200-125714400	Weak transcription	Fetal Muscle Leg	muscle
42	chr8:125712200-125714600	Weak transcription	Small Intestine	intestine
43	chr8:125712200-125714800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr8:125712200-125716200	Weak transcription	Right Atrium	heart
45	chr8:125712200-125718000	Weak transcription	Fetal Brain Male	brain
46	chr8:125712200-125718800	Weak transcription	Fetal Stomach	stomach
47	chr8:125712200-125720000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:125712200-125721200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:125712200-125721400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr8:125712400-125716600	Weak transcription	Ovary	ovary

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