Variant report

Variant	rs8050367
Chromosome Location	chr16:75313258-75313259
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75298632..75302231-chr16:75311221..75313993,4	K562	blood:
2	chr16:75305411..75308006-chr16:75310161..75314701,4	MCF-7	breast:
3	chr16:75311909..75314850-chr16:75324692..75326248,2	MCF-7	breast:
4	chr16:75312126..75313652-chr16:75315659..75317254,2	K562	blood:
5	chr16:75311251..75314643-chr16:75315165..75318311,4	K562	blood:

Variant related genes	Relation type
ENSG00000050820	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10438605	0.89[ASN][1000 genomes]
rs11149817	0.83[ASN][1000 genomes]
rs12149472	0.89[ASN][1000 genomes]
rs12149940	0.89[ASN][1000 genomes]
rs12444789	0.89[ASN][1000 genomes]
rs12445803	0.89[ASN][1000 genomes]
rs12716785	0.89[ASN][1000 genomes]
rs12919055	0.93[ASN][1000 genomes]
rs12921808	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12926447	0.89[ASN][1000 genomes]
rs12928461	0.90[ASN][1000 genomes]
rs12935491	0.89[ASN][1000 genomes]
rs13337069	0.82[ASN][1000 genomes]
rs13339257	0.86[ASN][1000 genomes]
rs17605695	0.89[ASN][1000 genomes]
rs17674216	0.89[ASN][1000 genomes]
rs2285221	0.89[ASN][1000 genomes]
rs2550325	0.89[ASN][1000 genomes]
rs2550916	0.89[ASN][1000 genomes]
rs2650408	0.89[ASN][1000 genomes]
rs2650409	0.89[ASN][1000 genomes]
rs28368934	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28510780	0.82[ASN][1000 genomes]
rs34532060	0.89[ASN][1000 genomes]
rs35255668	0.80[ASN][1000 genomes]
rs4081763	0.89[ASN][1000 genomes]
rs4383172	0.89[ASN][1000 genomes]
rs55715607	0.89[ASN][1000 genomes]
rs55719515	0.89[ASN][1000 genomes]
rs59800961	0.89[ASN][1000 genomes]
rs60544814	0.82[ASN][1000 genomes]
rs6625	0.89[ASN][1000 genomes]
rs71380715	0.96[ASN][1000 genomes]
rs7184596	0.82[ASN][1000 genomes]
rs7185880	0.82[ASN][1000 genomes]
rs7186825	0.82[ASN][1000 genomes]
rs7188111	0.89[ASN][1000 genomes]
rs7189037	0.96[ASN][1000 genomes]
rs7206589	0.89[ASN][1000 genomes]
rs7206780	0.82[ASN][1000 genomes]
rs729109	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8046261	0.89[ASN][1000 genomes]
rs8047983	0.82[ASN][1000 genomes]
rs8048683	0.89[ASN][1000 genomes]
rs8051151	0.89[ASN][1000 genomes]
rs8051238	0.89[ASN][1000 genomes]
rs8052405	0.89[ASN][1000 genomes]
rs8052555	0.89[ASN][1000 genomes]
rs8055098	0.86[ASN][1000 genomes]
rs8056345	0.89[ASN][1000 genomes]
rs8056473	0.89[ASN][1000 genomes]
rs8057652	0.82[ASN][1000 genomes]
rs8057925	0.89[ASN][1000 genomes]
rs8059427	0.82[ASN][1000 genomes]
rs8063733	0.89[ASN][1000 genomes]
rs9319483	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9319484	0.86[ASN][1000 genomes]
rs9745455	0.89[ASN][1000 genomes]
rs9921115	0.89[ASN][1000 genomes]
rs9921330	0.89[ASN][1000 genomes]
rs9923034	0.89[ASN][1000 genomes]
rs9923465	0.96[ASN][1000 genomes]
rs9923574	0.89[ASN][1000 genomes]
rs9924524	0.89[ASN][1000 genomes]
rs9927330	0.89[ASN][1000 genomes]
rs9928744	0.89[ASN][1000 genomes]
rs9928901	0.89[ASN][1000 genomes]
rs9930002	0.96[ASN][1000 genomes]
rs9932982	0.89[ASN][1000 genomes]
rs9935954	0.89[ASN][1000 genomes]
rs9935967	0.89[ASN][1000 genomes]
rs9936641	0.89[ASN][1000 genomes]
rs9936648	0.89[ASN][1000 genomes]
rs9936853	0.82[ASN][1000 genomes]
rs9937903	0.96[ASN][1000 genomes]
rs9938936	0.89[ASN][1000 genomes]
rs9939080	0.89[ASN][1000 genomes]
rs9939587	0.80[ASN][1000 genomes]
rs9940189	0.89[ASN][1000 genomes]
rs9940884	0.89[ASN][1000 genomes]
rs9941142	0.89[ASN][1000 genomes]
rs9972714	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv833282	chr16:75154171-75330634	Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv523405	chr16:75227969-75342846	Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv906909	chr16:75236154-75316074	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv906910	chr16:75251299-75316074	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv906912	chr16:75252526-75320827	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
10	nsv471095	chr16:75269533-75320827	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
11	nsv833283	chr16:75302175-75392308	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8050367	RP11-252K23.2	cis	Thyroid	GTEx

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75301000-75325000	Weak transcription	Liver	Liver
2	chr16:75301800-75321800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr16:75302000-75315800	Weak transcription	Fetal Brain Female	brain
4	chr16:75302000-75324000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr16:75302400-75313400	Weak transcription	HSMM	muscle
6	chr16:75302400-75314600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr16:75302600-75313400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr16:75306000-75313400	Weak transcription	Pancreas	Pancrea
9	chr16:75306200-75325000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr16:75306200-75325200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr16:75306400-75314200	Weak transcription	Fetal Lung	lung
12	chr16:75306400-75321600	Weak transcription	Right Atrium	heart
13	chr16:75307600-75316400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:75307600-75316800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr16:75307600-75321600	Weak transcription	Lung	lung
16	chr16:75307800-75313400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr16:75307800-75318600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr16:75307800-75320400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr16:75307800-75323000	Weak transcription	NHLF	lung
20	chr16:75307800-75325400	Weak transcription	Osteobl	bone
21	chr16:75311600-75321200	Weak transcription	Spleen	Spleen
22	chr16:75312000-75316000	Weak transcription	Fetal Intestine Small	intestine
23	chr16:75312000-75324400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr16:75312400-75315000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr16:75312400-75317000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr16:75312400-75317000	Enhancers	HMEC	breast
27	chr16:75312400-75317200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr16:75312600-75316400	Enhancers	NHEK	skin
29	chr16:75312600-75316800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr16:75312800-75313600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr16:75312800-75314800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr16:75312800-75315200	Enhancers	Fetal Muscle Trunk	muscle
33	chr16:75313000-75313400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr16:75313000-75313600	Enhancers	HUVEC	blood vessel
35	chr16:75313000-75314600	Enhancers	Fetal Heart	heart
36	chr16:75313000-75315400	Enhancers	Fetal Muscle Leg	muscle
37	chr16:75313200-75313400	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr16:75313200-75313400	Enhancers	Brain Anterior Caudate	brain
39	chr16:75313200-75313400	Enhancers	Brain Hippocampus Middle	brain
40	chr16:75313200-75313400	Weak transcription	Fetal Stomach	stomach
41	chr16:75313200-75313400	Enhancers	Stomach Smooth Muscle	stomach
42	chr16:75313200-75313600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr16:75313200-75313600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr16:75313200-75313600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr16:75313200-75313600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr16:75313200-75313600	Enhancers	Gastric	stomach
47	chr16:75313200-75313600	Enhancers	Left Ventricle	heart
48	chr16:75313200-75313600	Enhancers	Ovary	ovary
49	chr16:75313200-75313600	Enhancers	HepG2	liver
50	chr16:75313200-75313800	Enhancers	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links