Variant report

Variant	rs72669337
Chromosome Location	chr8:104059641-104059642
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr8:104059522-104059826	K562	blood:	n/a	n/a
2	CEBPB	chr8:104059499-104059732	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103873846..103876788-chr8:104058991..104062713,4	MCF-7	breast:
2	chr8:104059291..104063011-chr8:104063018..104066980,5	K562	blood:
3	chr8:104059266..104060791-chr8:104062781..104065186,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KB-1507C5.2.1-2	chr8:104058991-104060359	l_3662_chr8:104011570-104059274_thyroid

No data

Variant related genes	Relation type
ATP6V1C1	TF binding region
ENSG00000253320	Chromatin interaction
ENSG00000155097	Chromatin interaction
ENSG00000155096	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1512351	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17199777	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17200931	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3808549	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808551	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55635754	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55649874	0.83[EUR][1000 genomes]
rs55844983	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56224531	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56370378	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57059899	0.83[EUR][1000 genomes]
rs57205128	0.83[EUR][1000 genomes]
rs72667277	0.83[EUR][1000 genomes]
rs72667278	0.83[EUR][1000 genomes]
rs72667279	0.83[EUR][1000 genomes]
rs72667281	0.83[EUR][1000 genomes]
rs72667282	0.83[EUR][1000 genomes]
rs72667289	0.83[EUR][1000 genomes]
rs72667290	0.83[EUR][1000 genomes]
rs72667292	0.83[EUR][1000 genomes]
rs72667301	0.87[EUR][1000 genomes]
rs72669305	0.87[EUR][1000 genomes]
rs72669319	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669327	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669334	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669342	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669349	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669351	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669354	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72669356	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73288580	0.83[EUR][1000 genomes]
rs7844885	0.87[EUR][1000 genomes]
rs7844974	0.90[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
rs72669337	ATP6V1C1	cis	Whole Blood	GTEx

Chromatin state (count:124 , 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	chr8:104034600-104059800	Weak transcription	A549	lung
4	chr8:104034600-104063600	Weak transcription	HSMMtube	muscle
5	chr8:104034600-104068400	Weak transcription	Right Ventricle	heart
6	chr8:104034800-104065600	Weak transcription	Fetal Kidney	kidney
7	chr8:104034800-104074600	Weak transcription	NHEK	skin
8	chr8:104035400-104061800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:104035400-104071200	Weak transcription	Brain Angular Gyrus	brain
10	chr8:104035800-104061800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:104036200-104065200	Weak transcription	Colon Smooth Muscle	Colon
12	chr8:104036800-104061200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:104037200-104063400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr8:104037200-104071400	Weak transcription	Fetal Brain Female	brain
15	chr8:104038000-104066800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:104039000-104069400	Weak transcription	Spleen	Spleen
17	chr8:104039800-104061200	Weak transcription	GM12878-XiMat	blood
18	chr8:104040200-104071400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:104040600-104071400	Weak transcription	Pancreas	Pancrea
20	chr8:104043800-104068200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr8:104044000-104066400	Weak transcription	HMEC	breast
22	chr8:104046000-104068000	Weak transcription	NHLF	lung
23	chr8:104048400-104063800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:104050400-104069200	Weak transcription	Aorta	Aorta
25	chr8:104050400-104086000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr8:104050600-104066600	Weak transcription	Ovary	ovary
27	chr8:104050600-104089600	Weak transcription	Psoas Muscle	Psoas
28	chr8:104050800-104061400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:104050800-104062400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr8:104050800-104067800	Weak transcription	Brain Substantia Nigra	brain
31	chr8:104050800-104069800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:104051600-104087400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr8:104052600-104065400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:104052600-104066600	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr8:104052800-104082200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr8:104053000-104059800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:104053000-104066800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:104053000-104067000	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr8:104053000-104068600	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr8:104053200-104064000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:104053200-104073000	Weak transcription	Colonic Mucosa	Colon
42	chr8:104053200-104085600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:104053600-104063400	Strong transcription	Liver	Liver
44	chr8:104053600-104083800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:104053800-104067600	Strong transcription	Primary B cells from cord blood	blood
46	chr8:104054000-104084400	Strong transcription	Fetal Thymus	thymus
47	chr8:104054200-104083400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:104054200-104083800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr8:104054200-104084400	Strong transcription	Primary B cells from peripheral blood	blood
50	chr8:104054400-104059800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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