Variant report

Variant	rs12534526
Chromosome Location	chr7:50426097-50426098
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	chr7:50343181..50349424-chr7:50422122..50427943,10	K562	blood:
2	chr7:50425673..50428002-chr7:50857921..50860124,2	K562	blood:

Variant related genes	Relation type
ENSG00000185811	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12668621	0.81[AFR][1000 genomes]
rs12669559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12718597	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12718730	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12718731	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12718785	0.87[ASN][1000 genomes]
rs7385935	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464444	chr7:49671882-50454736	Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv606897	chr7:49671883-50454736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv498090	chr7:49708644-50427714	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1020869	chr7:49712860-50457544	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12534526	FIGNL1	cis	Thyroid	GTEx
rs12534526	FIGNL1	cis	lung	GTEx

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50410600-50426800	Genic enhancers	Primary B cells from peripheral blood	blood
2	chr7:50410800-50427400	Genic enhancers	Dnd41	blood
3	chr7:50411000-50427600	Genic enhancers	Fetal Thymus	thymus
4	chr7:50411000-50433000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:50411200-50433000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:50413000-50427400	Genic enhancers	Thymus	Thymus
7	chr7:50416800-50430400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr7:50416800-50440000	Weak transcription	Gastric	stomach
9	chr7:50418400-50427200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr7:50419800-50427600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:50420000-50461800	Genic enhancers	Primary T cells fromperipheralblood	blood
12	chr7:50420600-50453400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
13	chr7:50420800-50431800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
14	chr7:50421200-50429800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr7:50421200-50431000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr7:50421400-50427400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:50421400-50430600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr7:50422800-50427400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr7:50423200-50427200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:50423400-50427400	Weak transcription	Esophagus	oesophagus
21	chr7:50424000-50427800	Weak transcription	Right Atrium	heart
22	chr7:50424400-50427600	Genic enhancers	K562	blood
23	chr7:50424600-50427200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:50424800-50427200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr7:50424800-50427400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:50425000-50432400	Genic enhancers	Primary hematopoietic stem cells	blood
27	chr7:50425200-50426400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
28	chr7:50425400-50426400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr7:50425600-50426400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:50425600-50426600	Weak transcription	Spleen	Spleen
31	chr7:50425600-50427200	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr7:50425600-50427400	Weak transcription	Adipose Nuclei	Adipose
33	chr7:50425800-50426200	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr7:50425800-50426200	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr7:50425800-50426400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr7:50425800-50427000	Strong transcription	Primary B cells from cord blood	blood
37	chr7:50426000-50426200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr7:50426000-50426400	Enhancers	Lung	lung
39	chr7:50426000-50427000	Weak transcription	GM12878-XiMat	blood
40	chr7:50426000-50430600	Genic enhancers	Primary monocytes fromperipheralblood	blood

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