Variant report

Variant	rs3018952
Chromosome Location	chr8:103815498-103815499
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	SPI1	chr8:103815192-103815636	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:103420136..103427906-chr8:103815410..103825210,22	MCF-7	breast:
2	chr8:103813514..103815799-chr8:103818279..103820014,2	K562	blood:
3	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253669	TF binding region
ENSG00000104517	Chromatin interaction
ENSG00000253669	Chromatin interaction
ENSG00000155090	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2436867	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	esv1814245	chr8:103735804-103824566	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3018952	KB-1732A1.1	cis	Skin Sun Exposed Lower leg	GTEx
rs3018952	AZIN1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103803800-103816400	Weak transcription	Small Intestine	intestine
2	chr8:103803800-103817000	Weak transcription	Aorta	Aorta
3	chr8:103808000-103816200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:103808000-103816600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:103808000-103816800	Weak transcription	Fetal Heart	heart
6	chr8:103808000-103817000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:103808000-103817200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:103808200-103816200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr8:103809400-103816800	Weak transcription	Psoas Muscle	Psoas
10	chr8:103809600-103819400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr8:103810000-103816200	Weak transcription	Lung	lung
12	chr8:103810000-103816800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr8:103810000-103818200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:103810200-103816800	Weak transcription	Thymus	Thymus
15	chr8:103810400-103816600	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr8:103810800-103816000	Weak transcription	Placenta	Placenta
17	chr8:103810800-103816800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:103811200-103815600	Weak transcription	Primary T cells from cord blood	blood
19	chr8:103811800-103816800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr8:103812000-103817000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr8:103813000-103816400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:103814200-103816800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr8:103814200-103818000	Enhancers	HepG2	liver
24	chr8:103814400-103816200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr8:103814600-103816000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:103814800-103816800	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr8:103814800-103818400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr8:103815000-103816400	Weak transcription	A549	lung
29	chr8:103815400-103815800	Weak transcription	Liver	Liver
30	chr8:103815400-103816400	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr8:103815400-103816800	Enhancers	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links