Variant report

Variant	rs12668621
Chromosome Location	chr7:50424981-50424982
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50244998..50245577-chr7:50424453..50425223,2	K562	blood:
2	chr7:50343181..50349424-chr7:50422122..50427943,10	K562	blood:
3	chr7:50342496..50349424-chr7:50420106..50425502,8	K562	blood:

Variant related genes	Relation type
ENSG00000185811	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12534526	0.81[AFR][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12668621	FIGNL1	cis	lung	GTEx

Chromatin state (count:41 , 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	chr7:50416400-50425800	Genic enhancers	Primary B cells from cord blood	blood
8	chr7:50416800-50430400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr7:50416800-50440000	Weak transcription	Gastric	stomach
10	chr7:50418400-50427200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr7:50419800-50427600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:50420000-50461800	Genic enhancers	Primary T cells fromperipheralblood	blood
13	chr7:50420200-50426000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr7:50420600-50453400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
15	chr7:50420800-50431800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
16	chr7:50421000-50425600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:50421200-50429800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr7:50421200-50431000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr7:50421400-50425800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:50421400-50427400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:50421400-50430600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr7:50421600-50425800	Genic enhancers	Primary T cells from cord blood	blood
23	chr7:50422800-50427400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr7:50423200-50425200	Weak transcription	Spleen	Spleen
25	chr7:50423200-50427200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:50423400-50425200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr7:50423400-50427400	Weak transcription	Esophagus	oesophagus
28	chr7:50423600-50425600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr7:50424000-50425000	Enhancers	Primary hematopoietic stem cells	blood
30	chr7:50424000-50426000	Strong transcription	GM12878-XiMat	blood
31	chr7:50424000-50427800	Weak transcription	Right Atrium	heart
32	chr7:50424400-50425400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr7:50424400-50425600	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr7:50424400-50427600	Genic enhancers	K562	blood
35	chr7:50424600-50425000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr7:50424600-50427200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:50424800-50425000	Enhancers	Colonic Mucosa	Colon
38	chr7:50424800-50425600	Enhancers	Adipose Nuclei	Adipose
39	chr7:50424800-50426000	Weak transcription	Lung	lung
40	chr7:50424800-50427200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr7:50424800-50427400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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