Variant report

Variant	rs34222054
Chromosome Location	chr8:61897510-61897511
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs28716868	1.00[EUR][1000 genomes]
rs67910121	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73264745	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7845108	0.83[AMR][1000 genomes];1.00[EUR][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	nsv429919	chr8:61771472-61979873	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS 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	11 gene(s)	inside rSNPs	diseases
2	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv890948	chr8:61844766-61954970	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61891000-61897600	Enhancers	Primary B cells from peripheral blood	blood
2	chr8:61891400-61897800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr8:61891600-61898000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr8:61892600-61897600	Enhancers	Primary B cells from cord blood	blood
5	chr8:61893000-61897600	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr8:61893400-61898200	Enhancers	Brain Substantia Nigra	brain
7	chr8:61893400-61899800	Enhancers	Brain Hippocampus Middle	brain
8	chr8:61893400-61900200	Enhancers	Brain Anterior Caudate	brain
9	chr8:61895400-61898000	Enhancers	Adipose Nuclei	Adipose
10	chr8:61895400-61905400	Weak transcription	Fetal Thymus	thymus
11	chr8:61895600-61898600	Enhancers	Liver	Liver
12	chr8:61895800-61898200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:61896000-61897600	Enhancers	Duodenum Mucosa	Duodenum
14	chr8:61896000-61898000	Enhancers	Fetal Muscle Trunk	muscle
15	chr8:61896200-61898800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr8:61896400-61897600	Enhancers	Small Intestine	intestine
17	chr8:61896400-61898400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:61896400-61898600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr8:61896400-61909800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:61896600-61897800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:61896600-61898200	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr8:61896800-61897800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:61896800-61897800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:61896800-61897800	Weak transcription	Esophagus	oesophagus
25	chr8:61896800-61897800	Weak transcription	Left Ventricle	heart
26	chr8:61896800-61897800	Weak transcription	Pancreas	Pancrea
27	chr8:61896800-61897800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr8:61896800-61899000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:61896800-61899400	Weak transcription	Brain Angular Gyrus	brain
30	chr8:61896800-61899600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:61896800-61908800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:61896800-61909200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr8:61896800-61909200	Weak transcription	Fetal Brain Male	brain
34	chr8:61897200-61898400	Enhancers	HepG2	liver
35	chr8:61897200-61900600	Weak transcription	Fetal Muscle Leg	muscle
36	chr8:61897400-61897600	Enhancers	Stomach Mucosa	stomach
37	chr8:61897400-61898400	Enhancers	Fetal Intestine Small	intestine
38	chr8:61897400-61899200	Enhancers	Fetal Intestine Large	intestine

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