Variant report

Variant	rs554371412
Chromosome Location	chr8:121501867-121501868
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv470235	chr8:121437222-121526747	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv519152	chr8:121458457-121571266	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1021757	chr8:121501179-121620441	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv539740	chr8:121501179-121620441	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121458000-121510400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:121458200-121505200	Weak transcription	Placenta	Placenta
3	chr8:121458600-121504200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr8:121458600-121516400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr8:121458800-121504000	Weak transcription	Fetal Heart	heart
6	chr8:121458800-121510200	Weak transcription	Brain Germinal Matrix	brain
7	chr8:121458800-121510400	Weak transcription	NHLF	lung
8	chr8:121458800-121539000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:121459000-121528600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:121469200-121515200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:121470000-121502400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:121474600-121553600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr8:121477800-121503800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:121482600-121503800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:121484400-121541800	Weak transcription	Left Ventricle	heart
16	chr8:121487600-121512200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:121488400-121539200	Weak transcription	HSMM	muscle
18	chr8:121491400-121541800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:121493600-121502200	Weak transcription	Gastric	stomach
20	chr8:121493600-121506400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr8:121497200-121534200	Weak transcription	Small Intestine	intestine
22	chr8:121498000-121507400	Weak transcription	Psoas Muscle	Psoas
23	chr8:121498200-121503800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr8:121498200-121552400	Weak transcription	Pancreas	Pancrea
25	chr8:121498400-121502000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:121498600-121509800	Weak transcription	Right Ventricle	heart
27	chr8:121498600-121533200	Weak transcription	HMEC	breast
28	chr8:121498800-121503600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr8:121498800-121505400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:121498800-121506000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr8:121498800-121510200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:121498800-121530200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:121499000-121504400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr8:121499400-121503200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:121499400-121503200	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr8:121499400-121503800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr8:121499400-121504000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr8:121499400-121504000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr8:121499400-121530600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:121499400-121550600	Weak transcription	Fetal Kidney	kidney
41	chr8:121499600-121507400	Weak transcription	Fetal Intestine Small	intestine
42	chr8:121499800-121502400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:121499800-121550600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr8:121500000-121504200	Weak transcription	Fetal Lung	lung
45	chr8:121500000-121507200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:121500000-121530800	Weak transcription	Primary B cells from peripheral blood	blood
47	chr8:121500000-121550800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr8:121500200-121503200	Weak transcription	Aorta	Aorta
49	chr8:121500200-121504600	Weak transcription	Brain Hippocampus Middle	brain
50	chr8:121500400-121502400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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