Variant report

Variant	rs17131522
Chromosome Location	chr1:92151273-92151274
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92148164..92151549-chr1:92152320..92156969,4	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs41522844	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6669888	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs913060	0.83[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv2763581	chr1:92068967-92203803	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1014990	chr1:92084142-92206674	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17131522	GFI1	cis	cerebellum	SCAN

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92143800-92152200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:92143800-92154200	Weak transcription	Aorta	Aorta
3	chr1:92145200-92159000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:92146600-92157000	Weak transcription	Fetal Brain Male	brain
5	chr1:92146800-92163000	Weak transcription	Hela-S3	cervix
6	chr1:92147200-92151600	Weak transcription	Psoas Muscle	Psoas
7	chr1:92147400-92164600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:92148000-92151400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:92148200-92151800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr1:92148400-92154800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:92148600-92151800	Enhancers	Fetal Thymus	thymus
12	chr1:92148600-92152800	Enhancers	Fetal Heart	heart
13	chr1:92148600-92154400	Genic enhancers	NHDF-Ad	bronchial
14	chr1:92148600-92154600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr1:92148600-92155000	Enhancers	Duodenum Mucosa	Duodenum
16	chr1:92149000-92151800	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr1:92149000-92170000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:92149200-92151400	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr1:92149200-92151400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr1:92149200-92152000	Enhancers	Adipose Nuclei	Adipose
21	chr1:92149200-92155400	Enhancers	Fetal Lung	lung
22	chr1:92149400-92151600	Enhancers	Fetal Stomach	stomach
23	chr1:92149400-92151600	Enhancers	Stomach Smooth Muscle	stomach
24	chr1:92149400-92151800	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr1:92149400-92151800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:92149400-92153400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:92149400-92155600	Weak transcription	Pancreas	Pancrea
28	chr1:92149400-92159000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:92149400-92172800	Weak transcription	Esophagus	oesophagus
30	chr1:92149600-92151400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:92149600-92151600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:92149600-92151800	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr1:92149600-92151800	Enhancers	Placenta	Placenta
34	chr1:92149600-92152000	Enhancers	Colon Smooth Muscle	Colon
35	chr1:92149600-92152200	Enhancers	Fetal Muscle Leg	muscle
36	chr1:92149600-92152400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr1:92149600-92152600	Enhancers	Primary T cells fromperipheralblood	blood
38	chr1:92149600-92153400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:92149600-92166000	Weak transcription	NHEK	skin
40	chr1:92149800-92151400	Enhancers	Primary hematopoietic stem cells	blood
41	chr1:92149800-92151400	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr1:92149800-92151600	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr1:92149800-92151600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr1:92149800-92151600	Enhancers	NHLF	lung
45	chr1:92149800-92152000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:92150000-92152800	Enhancers	Left Ventricle	heart
47	chr1:92150000-92152800	Enhancers	Spleen	Spleen
48	chr1:92150000-92153200	Enhancers	Ovary	ovary
49	chr1:92150000-92153600	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr1:92150200-92152200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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