Variant report

Variant	rs7149727
Chromosome Location	chr14:67957126-67957127
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	MYC	chr14:67956956-67957249	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr14:67957009-67957196	MCF10A-Er-Src	breast:	n/a	n/a
3	NR3C1	chr14:67956971-67957344	A549	lung:	n/a	chr14:67957113-67957127 chr14:67957109-67957130 chr14:67957113-67957127 chr14:67957112-67957128 chr14:67957112-67957128 chr14:67957112-67957128 chr14:67957112-67957129 chr14:67957112-67957128
4	NR3C1	chr14:67956792-67957347	A549	lung:	n/a	chr14:67957113-67957127 chr14:67957109-67957130 chr14:67957113-67957127 chr14:67957112-67957128 chr14:67957112-67957128 chr14:67957112-67957128 chr14:67957112-67957129 chr14:67957112-67957128
5	CEBPB	chr14:67956934-67957172	HepG2	liver:	n/a	chr14:67957015-67957026 chr14:67957062-67957073

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:67955748..67958630-chr14:67960758..67962478,3	MCF-7	breast:
2	chr14:67945105..67947990-chr14:67956817..67958766,2	MCF-7	breast:

Variant related genes	Relation type
TMEM229B	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10129316	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]

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	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1048046	chr14:67932876-67958467	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1035855	chr14:67935684-67964355	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv1320	chr14:67938724-67984157	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7149727	FNTB	cis	cerebellum	SCAN
rs7149727	ACTN1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67935000-67977200	Weak transcription	Brain Angular Gyrus	brain
2	chr14:67947000-67958200	Weak transcription	Pancreas	Pancrea
3	chr14:67947200-67958400	Weak transcription	Brain Germinal Matrix	brain
4	chr14:67949800-67958200	Weak transcription	Fetal Brain Male	brain
5	chr14:67952400-67958600	Weak transcription	Fetal Brain Female	brain
6	chr14:67952800-67957600	Weak transcription	Fetal Stomach	stomach
7	chr14:67953800-67958800	Weak transcription	Fetal Intestine Large	intestine
8	chr14:67954800-67959000	Weak transcription	Fetal Intestine Small	intestine
9	chr14:67955400-67958600	Weak transcription	Gastric	stomach
10	chr14:67955600-67957200	Enhancers	Primary hematopoietic stem cells	blood
11	chr14:67955600-67958000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:67955600-67958800	Weak transcription	Left Ventricle	heart
13	chr14:67955800-67957200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr14:67955800-67957600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr14:67955800-67957800	Enhancers	Fetal Thymus	thymus
16	chr14:67955800-67957800	Enhancers	Thymus	Thymus
17	chr14:67955800-67958000	Enhancers	Primary T cells fromperipheralblood	blood
18	chr14:67955800-67958200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr14:67955800-67958800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:67955800-67959600	Enhancers	Primary B cells from peripheral blood	blood
21	chr14:67955800-67959600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr14:67956000-67957200	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr14:67956000-67959600	Enhancers	Primary B cells from cord blood	blood
24	chr14:67956000-67978000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr14:67956200-67957400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr14:67956200-67957400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr14:67956200-67958200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:67956200-67958400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr14:67956200-67958800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr14:67956200-67959200	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr14:67956200-67959400	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr14:67956200-67960200	Weak transcription	Primary T cells from cord blood	blood
33	chr14:67956200-67981000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr14:67956400-67959200	Weak transcription	Dnd41	blood
35	chr14:67956400-67960400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr14:67956800-67957200	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr14:67956800-67961000	ZNF genes & repeats	GM12878-XiMat	blood
38	chr14:67957000-67957200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr14:67957000-67957200	Enhancers	Spleen	Spleen
40	chr14:67957000-67959200	Enhancers	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links