Variant report

Variant	rs73710949
Chromosome Location	chr8:130853162-130853163
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	chr8:130852434..130855409-chr8:130857919..130860602,3	K562	blood:
2	chr8:130852731..130855092-chr8:130855258..130857778,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153310	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs16904165	0.90[AMR][1000 genomes]
rs16904167	1.00[AMR][1000 genomes]
rs16904172	0.81[AMR][1000 genomes]
rs16904177	1.00[AMR][1000 genomes]
rs60106676	0.90[AMR][1000 genomes]
rs60814482	1.00[AFR][1000 genomes]
rs73710951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73710953	1.00[AFR][1000 genomes]
rs73710959	1.00[AMR][1000 genomes]
rs73710960	1.00[AMR][1000 genomes]
rs73710970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73710971	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428524	chr8:130731660-130894467	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130839000-130860200	Weak transcription	Fetal Intestine Small	intestine
2	chr8:130839200-130882000	Weak transcription	Right Ventricle	heart
3	chr8:130845600-130882000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:130846000-130882000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:130846400-130881800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:130846600-130854000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr8:130847600-130855200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:130847800-130854200	Weak transcription	K562	blood
9	chr8:130847800-130855600	Weak transcription	Pancreas	Pancrea
10	chr8:130847800-130863800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:130848400-130854600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr8:130849200-130853600	Weak transcription	HepG2	liver
13	chr8:130850000-130861200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr8:130850200-130860800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:130850200-130862200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr8:130850200-130863600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:130850200-130864200	Weak transcription	Small Intestine	intestine
18	chr8:130850400-130853200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr8:130850600-130855200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:130850600-130855400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr8:130850800-130854600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr8:130850800-130884000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:130851000-130883800	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr8:130851200-130855200	Weak transcription	Dnd41	blood
25	chr8:130851200-130855600	Weak transcription	Gastric	stomach
26	chr8:130851200-130855600	Weak transcription	Right Atrium	heart
27	chr8:130851200-130856200	Strong transcription	Primary T cells from cord blood	blood
28	chr8:130851200-130878600	Weak transcription	Ovary	ovary
29	chr8:130851400-130853200	Strong transcription	Thymus	Thymus
30	chr8:130851400-130859600	Strong transcription	A549	lung
31	chr8:130851400-130868000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr8:130851600-130854200	Weak transcription	HSMMtube	muscle
33	chr8:130851600-130860600	Weak transcription	Fetal Stomach	stomach
34	chr8:130851600-130884600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr8:130851800-130855600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr8:130851800-130859400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:130851800-130860800	Weak transcription	NHDF-Ad	bronchial
38	chr8:130851800-130861800	Weak transcription	Colon Smooth Muscle	Colon
39	chr8:130851800-130875400	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr8:130852000-130853200	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr8:130852000-130853200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:130852000-130853200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:130852000-130853200	Strong transcription	Lung	lung
44	chr8:130852000-130853400	Strong transcription	Fetal Muscle Leg	muscle
45	chr8:130852000-130853400	Enhancers	Spleen	Spleen
46	chr8:130852000-130853400	Enhancers	HUVEC	blood vessel
47	chr8:130852000-130855400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:130852000-130856600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr8:130852000-130856800	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr8:130852000-130857800	Strong transcription	NHEK	skin

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