Variant report

Variant	rs72669342
Chromosome Location	chr8:104065470-104065471
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103876318..103877933-chr8:104065159..104067089,2	MCF-7	breast:
2	chr8:104065394..104066935-chr8:104066977..104068842,2	MCF-7	breast:
3	chr8:104032214..104034856-chr8:104064086..104065611,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254236	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000155097	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1512351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17199777	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17200931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3808549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808551	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55635754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55649874	0.86[EUR][1000 genomes]
rs55844983	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56224531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56249406	0.85[AMR][1000 genomes]
rs56370378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57059899	0.86[EUR][1000 genomes]
rs57205128	0.86[EUR][1000 genomes]
rs72667277	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72667278	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72667279	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72667281	0.86[EUR][1000 genomes]
rs72667282	0.86[EUR][1000 genomes]
rs72667289	0.86[EUR][1000 genomes]
rs72667290	0.86[EUR][1000 genomes]
rs72667292	0.86[EUR][1000 genomes]
rs72667301	0.90[EUR][1000 genomes]
rs72669305	0.90[EUR][1000 genomes]
rs72669319	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669327	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669337	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72669356	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73288580	0.86[EUR][1000 genomes]
rs7844885	0.90[EUR][1000 genomes]
rs7844974	0.93[EUR][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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72669342	ATP6V1C1	cis	Whole Blood	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104034200-104068800	Weak transcription	Small Intestine	intestine
2	chr8:104034400-104069400	Weak transcription	Esophagus	oesophagus
3	chr8:104034600-104068400	Weak transcription	Right Ventricle	heart
4	chr8:104034800-104065600	Weak transcription	Fetal Kidney	kidney
5	chr8:104034800-104074600	Weak transcription	NHEK	skin
6	chr8:104035400-104071200	Weak transcription	Brain Angular Gyrus	brain
7	chr8:104037200-104071400	Weak transcription	Fetal Brain Female	brain
8	chr8:104038000-104066800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:104039000-104069400	Weak transcription	Spleen	Spleen
10	chr8:104040200-104071400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:104040600-104071400	Weak transcription	Pancreas	Pancrea
12	chr8:104043800-104068200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:104044000-104066400	Weak transcription	HMEC	breast
14	chr8:104046000-104068000	Weak transcription	NHLF	lung
15	chr8:104050400-104069200	Weak transcription	Aorta	Aorta
16	chr8:104050400-104086000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr8:104050600-104066600	Weak transcription	Ovary	ovary
18	chr8:104050600-104089600	Weak transcription	Psoas Muscle	Psoas
19	chr8:104050800-104067800	Weak transcription	Brain Substantia Nigra	brain
20	chr8:104050800-104069800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:104051600-104087400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr8:104052600-104066600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr8:104052800-104082200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr8:104053000-104066800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:104053000-104067000	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr8:104053000-104068600	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr8:104053200-104073000	Weak transcription	Colonic Mucosa	Colon
28	chr8:104053200-104085600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:104053600-104083800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:104053800-104067600	Strong transcription	Primary B cells from cord blood	blood
31	chr8:104054000-104084400	Strong transcription	Fetal Thymus	thymus
32	chr8:104054200-104083400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:104054200-104083800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr8:104054200-104084400	Strong transcription	Primary B cells from peripheral blood	blood
35	chr8:104055200-104087000	Weak transcription	K562	blood
36	chr8:104055400-104069800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr8:104056200-104077000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:104056800-104066200	Weak transcription	Fetal Brain Male	brain
39	chr8:104056800-104069400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:104057000-104084200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:104058400-104067400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:104058400-104068000	Weak transcription	Fetal Heart	heart
43	chr8:104058800-104071600	Strong transcription	HSMM	muscle
44	chr8:104058800-104073600	Strong transcription	Dnd41	blood
45	chr8:104058800-104083400	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr8:104059000-104067800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr8:104059000-104072800	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr8:104059000-104083600	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr8:104059200-104072000	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr8:104059200-104083600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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