Variant report

Variant	rs17361004
Chromosome Location	chr8:125268800-125268801
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125261519..125263579-chr8:125267585..125270166,2	K562	blood:
2	chr8:125265421..125269715-chr8:125283208..125285335,3	MCF-7	breast:
3	chr8:125266902..125269878-chr8:125272603..125275281,2	MCF-7	breast:
4	chr8:125262127..125264204-chr8:125266153..125270131,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206724	Chromatin interaction
ENSG00000253227	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10087001	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10089870	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13439443	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16899475	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs17360690	1.00[CEU][hapmap];0.88[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17360711	1.00[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28371029	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4871483	0.81[CEU][hapmap];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55764180	0.88[EUR][1000 genomes]
rs55932688	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56218959	0.93[EUR][1000 genomes]
rs56234976	0.91[EUR][1000 genomes]
rs56245645	0.89[EUR][1000 genomes]
rs6983392	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6988141	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7003238	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73330303	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73330304	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73345110	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73345113	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73345158	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73345172	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73345176	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73345185	0.92[EUR][1000 genomes]
rs9297691	0.81[CHB][hapmap];0.89[JPT][hapmap]

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	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17361004	RP11-383J24.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125258400-125282800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:125259600-125273800	Weak transcription	Left Ventricle	heart
3	chr8:125260000-125269400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr8:125263600-125270800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:125264200-125272600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr8:125264200-125273000	Weak transcription	Primary T cells from cord blood	blood
7	chr8:125264400-125272200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr8:125264400-125272600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr8:125265400-125268800	Enhancers	Adipose Nuclei	Adipose
10	chr8:125266200-125269800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:125266200-125270000	Enhancers	Primary B cells from cord blood	blood
12	chr8:125266200-125271000	Enhancers	Primary B cells from peripheral blood	blood
13	chr8:125266600-125268800	Enhancers	Fetal Intestine Small	intestine
14	chr8:125266800-125269000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr8:125267000-125269800	Enhancers	GM12878-XiMat	blood
16	chr8:125267200-125269800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:125267600-125268800	Enhancers	Spleen	Spleen
18	chr8:125267600-125269400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:125268000-125270000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr8:125268000-125273400	Weak transcription	Fetal Intestine Large	intestine
21	chr8:125268200-125271200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr8:125268200-125272200	Weak transcription	Hela-S3	cervix
23	chr8:125268200-125273400	Weak transcription	A549	lung
24	chr8:125268400-125269000	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr8:125268400-125269400	Weak transcription	Gastric	stomach
26	chr8:125268400-125270200	Weak transcription	Pancreas	Pancrea
27	chr8:125268400-125273600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:125268400-125273800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:125268400-125273800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr8:125268600-125268800	Enhancers	Fetal Muscle Trunk	muscle
31	chr8:125268600-125269400	Enhancers	Placenta	Placenta
32	chr8:125268600-125273400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr8:125268600-125273400	Weak transcription	HUVEC	blood vessel
34	chr8:125268800-125269400	Enhancers	Fetal Brain Male	brain
35	chr8:125268800-125273400	Weak transcription	Fetal Intestine Small	intestine
36	chr8:125268800-125273800	Weak transcription	Spleen	Spleen

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