Variant report

Variant	rs10958392
Chromosome Location	chr8:54754824-54754825
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr8:54754734-54755008	H1-hESC	embryonic stem cell:	n/a	chr8:54754894-54754904
2	CHD1	chr8:54754583-54755521	H1-hESC	embryonic stem cell:	n/a	chr8:54755370-54755380
3	ZNF143	chr8:54754699-54754852	K562	blood:	n/a	n/a
4	MXI1	chr8:54754729-54756650	SK-N-SH	brain:	n/a	chr8:54755843-54755852 chr8:54756015-54756024
5	SIN3AK20	chr8:54754778-54756454	MCF-7	breast:	n/a	n/a
6	HCFC1	chr8:54754599-54756396	Hela-S3	cervix:	n/a	n/a
7	JUN	chr8:54754805-54756507	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:54651332..54653261-chr8:54754407..54756402,2	MCF-7	breast:
2	chr8:54754073..54757431-chr8:54763114..54767534,4	K562	blood:
3	chr8:54749963..54753631-chr8:54753914..54756219,5	MCF-7	breast:
4	chr8:54733544..54735901-chr8:54752993..54755423,2	MCF-7	breast:
5	chr8:53624816..53627483-chr8:54753343..54757526,4	K562	blood:

Variant related genes	Relation type
ATP6V1H	TF binding region
ENSG00000147509	Chromatin interaction
ENSG00000047249	Chromatin interaction
ENSG00000023287	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs13275279	1.00[LWK][hapmap]
rs3757953	0.96[AFR][1000 genomes];0.87[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	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10958392	ATP6V1H	cis	lymphoblastoid	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54710200-54755000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:54738800-54755000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:54750600-54755000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:54752400-54755000	Weak transcription	Left Ventricle	heart
5	chr8:54752600-54755000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:54752800-54755000	Weak transcription	Aorta	Aorta
7	chr8:54753400-54755000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:54753400-54755200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:54753400-54756600	Active TSS	Brain Anterior Caudate	brain
10	chr8:54753600-54755000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr8:54753600-54755400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:54753600-54755400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr8:54753600-54756600	Active TSS	NHLF	lung
14	chr8:54753800-54755000	Enhancers	Primary B cells from peripheral blood	blood
15	chr8:54753800-54756600	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr8:54754000-54755000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:54754000-54755000	Weak transcription	Lung	lung
18	chr8:54754000-54756400	Active TSS	Stomach Smooth Muscle	stomach
19	chr8:54754000-54756600	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr8:54754000-54756600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:54754000-54756600	Active TSS	Colonic Mucosa	Colon
22	chr8:54754000-54756600	Active TSS	Fetal Intestine Small	intestine
23	chr8:54754200-54755000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:54754200-54755000	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr8:54754200-54755000	Weak transcription	Esophagus	oesophagus
26	chr8:54754200-54755000	Weak transcription	Gastric	stomach
27	chr8:54754200-54755000	Weak transcription	Pancreas	Pancrea
28	chr8:54754200-54755200	Weak transcription	Spleen	Spleen
29	chr8:54754200-54755200	Flanking Active TSS	Dnd41	blood
30	chr8:54754200-54756400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:54754200-54756400	Active TSS	Brain Angular Gyrus	brain
32	chr8:54754200-54756400	Active TSS	Brain Hippocampus Middle	brain
33	chr8:54754200-54756400	Active TSS	NHDF-Ad	bronchial
34	chr8:54754200-54756600	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr8:54754200-54756600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:54754200-54756600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:54754200-54756600	Active TSS	Fetal Intestine Large	intestine
38	chr8:54754200-54756600	Active TSS	K562	blood
39	chr8:54754200-54756800	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr8:54754400-54755000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:54754400-54755000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr8:54754400-54755000	Weak transcription	Placenta	Placenta
43	chr8:54754400-54755200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr8:54754400-54755200	Flanking Active TSS	HUVEC	blood vessel
45	chr8:54754400-54755400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:54754400-54756200	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr8:54754400-54756200	Active TSS	GM12878-XiMat	blood
48	chr8:54754400-54756400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:54754400-54756400	Active TSS	HMEC	breast
50	chr8:54754400-54756400	Active TSS	NHEK	skin

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