Variant report

Variant	rs8101529
Chromosome Location	chr19:19146004-19146005
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19143657..19146284-chr19:19174594..19176382,2	MCF-7	breast:
2	chr19:19028019..19031021-chr19:19142402..19146031,5	K562	blood:

Variant related genes	Relation type
ENSG00000105669	Chromatin interaction
ENSG00000181035	Chromatin interaction
ENSG00000105671	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10221504	0.91[ASN][1000 genomes]
rs10403222	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10403322	0.84[EUR][1000 genomes]
rs10404627	0.91[ASN][1000 genomes]
rs10405189	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10405635	0.91[ASN][1000 genomes]
rs10409164	0.91[ASN][1000 genomes]
rs10410451	0.91[ASN][1000 genomes]
rs10410568	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10416783	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10422335	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10422906	0.91[ASN][1000 genomes]
rs10423742	0.91[ASN][1000 genomes]
rs10423815	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1079543	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10854005	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1124921	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11666120	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11666340	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11666627	0.91[ASN][1000 genomes]
rs11670204	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11670239	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11878368	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12016	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12975676	0.91[ASN][1000 genomes]
rs12975754	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12976302	0.88[ASN][1000 genomes]
rs12978822	0.85[ASN][1000 genomes]
rs12979565	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12985799	0.91[ASN][1000 genomes]
rs1859267	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2012318	0.91[ASN][1000 genomes]
rs2107263	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2158320	0.96[ASN][1000 genomes]
rs2240094	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2240095	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2269806	0.96[ASN][1000 genomes]
rs2285851	0.96[ASN][1000 genomes]
rs2313736	0.93[ASN][1000 genomes]
rs2872394	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3180770	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4808179	0.96[ASN][1000 genomes]
rs4808184	0.91[ASN][1000 genomes]
rs4808902	0.93[ASN][1000 genomes]
rs4808904	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4808905	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4808906	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4808907	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4808911	0.96[ASN][1000 genomes]
rs4808913	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4808916	0.91[ASN][1000 genomes]
rs6511010	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6511011	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6511014	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6511015	0.96[ASN][1000 genomes]
rs6511017	0.96[ASN][1000 genomes]
rs6511018	0.91[ASN][1000 genomes]
rs7248771	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7250131	0.91[ASN][1000 genomes]
rs7253244	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7255937	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7256648	0.90[ASN][1000 genomes]
rs7257635	0.87[ASN][1000 genomes]
rs7258637	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7259510	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7259609	0.91[ASN][1000 genomes]
rs8103431	0.91[ASN][1000 genomes]
rs8104754	0.82[EUR][1000 genomes]
rs8104799	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8106146	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8107710	0.86[ASN][1000 genomes]
rs8109654	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8110629	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8111634	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8111635	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8112566	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs916898	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs929215	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9304959	0.96[ASN][1000 genomes]
rs9676917	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833778	chr19:19012669-19201487	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv1059305	chr19:19131310-19209999	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8101529	TMEM161A	cis	Muscle Skeletal	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19145000-19154800	Weak transcription	Aorta	Aorta
2	chr19:19145000-19174000	Weak transcription	Small Intestine	intestine
3	chr19:19145200-19153600	Weak transcription	Ovary	ovary
4	chr19:19145400-19146200	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr19:19145400-19146200	Enhancers	Left Ventricle	heart
6	chr19:19145400-19146400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr19:19145400-19146400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
8	chr19:19145400-19146400	Enhancers	Fetal Brain Male	brain
9	chr19:19145400-19146600	Enhancers	Liver	Liver
10	chr19:19145400-19146600	Enhancers	Lung	lung
11	chr19:19145400-19146600	Enhancers	Thymus	Thymus
12	chr19:19145400-19147400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr19:19145400-19148600	Weak transcription	Esophagus	oesophagus
14	chr19:19145400-19153400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr19:19145400-19165600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr19:19145400-19171800	Weak transcription	Right Atrium	heart
17	chr19:19145600-19146200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr19:19145600-19146200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr19:19145600-19146200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr19:19145600-19146200	Enhancers	Primary T cells fromperipheralblood	blood
21	chr19:19145600-19146200	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr19:19145600-19146200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr19:19145600-19146200	Enhancers	Adipose Nuclei	Adipose
24	chr19:19145600-19146200	Enhancers	Brain Germinal Matrix	brain
25	chr19:19145600-19146200	Enhancers	Fetal Thymus	thymus
26	chr19:19145600-19146200	Enhancers	Right Ventricle	heart
27	chr19:19145600-19146200	Weak transcription	NHEK	skin
28	chr19:19145600-19146400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr19:19145600-19146400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr19:19145600-19146400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr19:19145600-19146400	Enhancers	HepG2	liver
32	chr19:19145600-19146600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr19:19145600-19146600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr19:19145600-19146600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr19:19145600-19146600	Enhancers	Psoas Muscle	Psoas
36	chr19:19145600-19146600	Weak transcription	GM12878-XiMat	blood
37	chr19:19145600-19146600	Enhancers	Hela-S3	cervix
38	chr19:19145600-19146600	Weak transcription	HSMM	muscle
39	chr19:19145600-19146600	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr19:19145600-19146800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr19:19145600-19146800	Enhancers	Muscle Satellite Cultured Cells	--
42	chr19:19145600-19147000	Weak transcription	Fetal Intestine Small	intestine
43	chr19:19145600-19147200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr19:19145600-19147200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:19145600-19147200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr19:19145600-19147200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr19:19145600-19147200	Weak transcription	Fetal Intestine Large	intestine
48	chr19:19145600-19147200	Weak transcription	Fetal Muscle Leg	muscle
49	chr19:19145600-19147400	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr19:19145600-19147400	Weak transcription	A549	lung

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