Variant report

Variant	rs551998859
Chromosome Location	chr8:130214718-130214719
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130183706..130186415-chr8:130213861..130215962,2	K562	blood:
2	chr8:130203532..130206316-chr8:130213311..130214939,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891443	chr8:130016499-130220746	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv891445	chr8:130152109-130224721	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv831460	chr8:130185680-130366217	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv612229	chr8:130213203-130252229	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130208200-130241600	Weak transcription	Thymus	Thymus
2	chr8:130210000-130215000	Genic enhancers	Dnd41	blood
3	chr8:130210000-130216600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:130211400-130215400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr8:130213400-130215000	Enhancers	K562	blood
6	chr8:130213600-130215600	Enhancers	Fetal Muscle Leg	muscle
7	chr8:130213800-130215600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:130213800-130215600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr8:130214000-130215400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:130214000-130216800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr8:130214200-130215200	Enhancers	Fetal Thymus	thymus
12	chr8:130214200-130215200	Enhancers	HUVEC	blood vessel
13	chr8:130214200-130216800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:130214400-130214800	Enhancers	Adipose Nuclei	Adipose
15	chr8:130214400-130215200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:130214400-130215400	Enhancers	Fetal Lung	lung
17	chr8:130214400-130215400	Enhancers	NH-A	brain
18	chr8:130214400-130215400	Enhancers	NHDF-Ad	bronchial
19	chr8:130214400-130215600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr8:130214400-130215600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr8:130214400-130215600	Enhancers	Osteobl	bone
22	chr8:130214400-130216800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:130214600-130214800	Enhancers	Fetal Heart	heart
24	chr8:130214600-130215000	Enhancers	Colon Smooth Muscle	Colon
25	chr8:130214600-130215000	Enhancers	Ovary	ovary
26	chr8:130214600-130215200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr8:130214600-130215200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr8:130214600-130215200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:130214600-130215200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:130214600-130215200	Enhancers	Rectal Smooth Muscle	rectum
31	chr8:130214600-130215400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr8:130214600-130215400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr8:130214600-130215400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr8:130214600-130215400	Enhancers	HSMMtube	muscle
35	chr8:130214600-130215400	Enhancers	NHEK	skin
36	chr8:130214600-130215600	Enhancers	HMEC	breast
37	chr8:130214600-130216400	Enhancers	Fetal Stomach	stomach

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