Variant report

Variant	rs73259475
Chromosome Location	chr8:61476193-61476194
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61471508..61475092-chr8:61475799..61479657,3	K562	blood:
2	chr8:61427866..61430946-chr8:61475959..61479177,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251396	Chromatin interaction
ENSG00000104388	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs7003660	0.85[AMR][1000 genomes]
rs7014033	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73259460	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73259501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7831316	1.00[AFR][1000 genomes];1.00[AMR][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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active 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	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv3384611	chr8:61461615-61480346	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61434800-61480600	Weak transcription	HMEC	breast
2	chr8:61438000-61488600	Weak transcription	Fetal Brain Female	brain
3	chr8:61439400-61494600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:61440800-61480000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:61448600-61505400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:61451400-61482200	Weak transcription	Right Ventricle	heart
7	chr8:61458200-61480600	Weak transcription	Gastric	stomach
8	chr8:61458200-61497000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:61459400-61495800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:61463600-61482200	Weak transcription	Esophagus	oesophagus
11	chr8:61466400-61516800	Weak transcription	Stomach Mucosa	stomach
12	chr8:61467200-61515400	Weak transcription	Fetal Brain Male	brain
13	chr8:61468000-61482200	Weak transcription	Aorta	Aorta
14	chr8:61468800-61488600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr8:61469000-61495000	Weak transcription	Brain Germinal Matrix	brain
16	chr8:61469400-61488600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr8:61470000-61477200	Strong transcription	Primary T cells from cord blood	blood
18	chr8:61470200-61478000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:61470400-61476800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr8:61470800-61476400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:61470800-61477000	Strong transcription	Primary hematopoietic stem cells	blood
22	chr8:61470800-61478000	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr8:61471400-61476200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr8:61471400-61477800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:61471400-61477800	Strong transcription	Dnd41	blood
26	chr8:61471600-61477800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:61471800-61476600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:61471800-61477800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:61472000-61476400	Strong transcription	Primary B cells from peripheral blood	blood
30	chr8:61472000-61478000	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr8:61472000-61488800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:61472400-61476600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:61472400-61477800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr8:61472400-61478000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr8:61472400-61478000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:61472400-61479200	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr8:61472600-61477600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:61472600-61477800	Strong transcription	Primary B cells from cord blood	blood
39	chr8:61472600-61478000	Strong transcription	Placenta	Placenta
40	chr8:61473000-61476800	Strong transcription	Adipose Nuclei	Adipose
41	chr8:61473000-61480600	Weak transcription	Pancreas	Pancrea
42	chr8:61473200-61489200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:61473600-61476800	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr8:61473600-61480600	Weak transcription	NHEK	skin
45	chr8:61473600-61493800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr8:61473600-61495000	Weak transcription	Spleen	Spleen
47	chr8:61473600-61497800	Weak transcription	Lung	lung
48	chr8:61474000-61476200	Strong transcription	Hela-S3	cervix
49	chr8:61474000-61476600	Genic enhancers	Osteobl	bone
50	chr8:61474000-61480600	Weak transcription	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links