Variant report

Variant	rs550654248
Chromosome Location	chr8:67543798-67543799
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67538585..67542543-chr8:67543588..67545665,4	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv831346	chr8:67486555-67675324	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv972250	chr8:67542862-67555066	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67526400-67558000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:67526800-67546000	Weak transcription	NHDF-Ad	bronchial
3	chr8:67526800-67546800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:67527000-67545200	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:67527000-67554000	Weak transcription	NHEK	skin
6	chr8:67533200-67544200	Weak transcription	HMEC	breast
7	chr8:67533200-67545600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:67538200-67544600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr8:67538200-67545600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr8:67538400-67545400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:67538400-67546400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr8:67538600-67546600	Weak transcription	Psoas Muscle	Psoas
13	chr8:67538600-67546800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr8:67538800-67544000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:67538800-67545600	Weak transcription	Left Ventricle	heart
16	chr8:67539000-67545400	Weak transcription	Primary T cells from cord blood	blood
17	chr8:67539200-67551200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:67539400-67546400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:67539400-67574000	Weak transcription	Spleen	Spleen
20	chr8:67539800-67544600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:67540200-67545400	Weak transcription	Primary B cells from cord blood	blood
22	chr8:67540400-67546800	Weak transcription	Pancreas	Pancrea
23	chr8:67540600-67545000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:67540800-67545200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr8:67541200-67546800	Weak transcription	Aorta	Aorta
26	chr8:67541800-67546000	Weak transcription	Hela-S3	cervix
27	chr8:67541800-67546400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr8:67541800-67546600	Weak transcription	K562	blood
29	chr8:67542000-67543800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:67542000-67544400	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr8:67542000-67544600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr8:67542000-67544800	Weak transcription	GM12878-XiMat	blood
33	chr8:67542000-67545000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr8:67542000-67545000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:67542000-67545400	Weak transcription	Liver	Liver
36	chr8:67542000-67545600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:67542000-67546600	Weak transcription	Brain Hippocampus Middle	brain
38	chr8:67542200-67544600	Weak transcription	Dnd41	blood
39	chr8:67542200-67545600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:67542200-67546600	Weak transcription	Brain Anterior Caudate	brain
41	chr8:67542200-67546800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr8:67542400-67545400	Weak transcription	Fetal Intestine Large	intestine
43	chr8:67542400-67546200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:67542600-67546800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr8:67542600-67551000	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr8:67542800-67544600	Weak transcription	Adipose Nuclei	Adipose
47	chr8:67542800-67544600	Weak transcription	Placenta	Placenta
48	chr8:67542800-67545200	Weak transcription	Fetal Lung	lung
49	chr8:67543000-67544800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr8:67543000-67545200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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