Variant report

Variant	rs8030500
Chromosome Location	chr15:77448542-77448543
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	chr15:77447640..77449355-chr15:77793706..77796059,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11630837	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11630843	0.91[ASN][1000 genomes]
rs11631909	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11632999	1.00[ASN][1000 genomes]
rs11634056	0.91[ASN][1000 genomes]
rs11636803	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11637488	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11638220	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11639079	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11639197	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12904384	0.80[ASN][1000 genomes]
rs12909704	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12910419	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17382798	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17383727	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17383984	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17384406	0.91[ASN][1000 genomes]
rs17466989	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17468792	0.83[AMR][1000 genomes]
rs2100054	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2864082	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34672572	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34870981	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35598964	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4450362	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56060493	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62008430	0.85[ASN][1000 genomes]
rs62008432	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62008434	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6495233	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs66715204	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71405237	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7166293	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7176254	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7181345	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7182880	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8032925	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	esv3440794	chr15:76764595-77571114	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1045376	chr15:77354671-77801487	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv542443	chr15:77354671-77801487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8030500	RP11-797A18.4	cis	Whole Blood	GTEx
rs8030500	RP11-797A18.4	cis	Adipose Subcutaneous	GTEx
rs8030500	RP11-797A18.4	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77401600-77449600	Weak transcription	Colonic Mucosa	Colon
2	chr15:77411800-77449400	Weak transcription	Colon Smooth Muscle	Colon
3	chr15:77419600-77449400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr15:77420400-77449800	Weak transcription	Psoas Muscle	Psoas
5	chr15:77426000-77449600	Weak transcription	Brain Angular Gyrus	brain
6	chr15:77426000-77452400	Weak transcription	Pancreas	Pancrea
7	chr15:77426200-77453200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr15:77427600-77460600	Weak transcription	Right Ventricle	heart
9	chr15:77428000-77449600	Weak transcription	Primary T cells from cord blood	blood
10	chr15:77433200-77449200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr15:77433400-77449400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr15:77433400-77449400	Weak transcription	Brain Hippocampus Middle	brain
13	chr15:77433400-77449600	Weak transcription	Left Ventricle	heart
14	chr15:77434200-77460400	Weak transcription	Fetal Brain Male	brain
15	chr15:77434800-77449200	Weak transcription	Brain Anterior Caudate	brain
16	chr15:77434800-77449200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr15:77434800-77449400	Weak transcription	Liver	Liver
18	chr15:77435000-77448600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr15:77435000-77449200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr15:77436000-77457800	Weak transcription	Spleen	Spleen
21	chr15:77436200-77449000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr15:77436200-77449400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr15:77436800-77449400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr15:77437000-77448800	Weak transcription	Fetal Lung	lung
25	chr15:77437000-77449600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr15:77437000-77451600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr15:77437000-77451800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr15:77437000-77471200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr15:77437400-77448600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr15:77437400-77449400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr15:77437600-77449200	Weak transcription	HUVEC	blood vessel
32	chr15:77437600-77449600	Weak transcription	Fetal Muscle Leg	muscle
33	chr15:77437600-77453400	Weak transcription	HMEC	breast
34	chr15:77437800-77448600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:77437800-77449400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr15:77438000-77448600	Weak transcription	Adipose Nuclei	Adipose
37	chr15:77438000-77449200	Weak transcription	Primary B cells from cord blood	blood
38	chr15:77438000-77453200	Weak transcription	Fetal Heart	heart
39	chr15:77438000-77453400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr15:77438200-77449000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr15:77438200-77449600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr15:77438400-77461000	Weak transcription	NH-A	brain
43	chr15:77438600-77449200	Weak transcription	Brain Substantia Nigra	brain
44	chr15:77438600-77449600	Weak transcription	Ovary	ovary
45	chr15:77438600-77457600	Weak transcription	Gastric	stomach
46	chr15:77438600-77461400	Weak transcription	Aorta	Aorta
47	chr15:77438600-77469000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr15:77438600-77470800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr15:77438800-77449600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr15:77439400-77449600	Weak transcription	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links