Variant report

Variant	rs1274762
Chromosome Location	chr14:69155627-69155628
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	RAD21	chr14:69155587-69156156	SK-N-SH_RA	brain:	n/a	chr14:69155734-69155748
2	RUNX3	chr14:69155604-69156137	GM12878	blood:	n/a	n/a
3	RAD21	chr14:69155540-69156105	H1-hESC	embryonic stem cell:	n/a	chr14:69155734-69155748
4	ZBTB7A	chr14:69155422-69155819	ECC-1	luminal epithelium:	n/a	n/a
5	RAD21	chr14:69155627-69156042	SK-N-SH_RA	brain:	n/a	chr14:69155734-69155748
6	PAX5	chr14:69155483-69155944	GM12878	blood:	n/a	chr14:69155669-69155687
7	POLR2A	chr14:69155624-69156047	SK-N-SH	brain:	n/a	n/a
8	TCF12	chr14:69155388-69156305	SK-N-SH	brain:	n/a	n/a
9	EP300	chr14:69155567-69155992	SK-N-SH_RA	brain:	n/a	n/a
10	PAX5	chr14:69155500-69155815	GM12878	blood:	n/a	chr14:69155669-69155687
11	RUNX3	chr14:69155585-69156125	GM12878	blood:	n/a	n/a
12	TCF12	chr14:69155381-69156189	SK-N-SH	brain:	n/a	n/a
13	EP300	chr14:69155521-69156114	SK-N-SH_RA	brain:	n/a	n/a
14	RAD21	chr14:69155626-69156202	ECC-1	luminal epithelium:	n/a	chr14:69155734-69155748

No.	Distal block	Cell Line	Cell type
1	chr14:69154565..69157494-chr14:69268927..69270470,2	MCF-7	breast:
2	chr14:69150326..69151907-chr14:69154699..69156604,2	MCF-7	breast:
3	chr14:69151881..69156000-chr14:69158463..69160812,4	MCF-7	breast:
4	chr14:69154642..69156519-chr14:69158526..69160084,2	K562	blood:
5	chr14:69149664..69152870-chr14:69154292..69157271,3	K562	blood:

Variant related genes	Relation type
ENSG00000242941	TF binding region
ENSG00000258623	TF binding region
ENSG00000242941	Chromatin interaction
ENSG00000258623	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1274761	1.00[CHB][hapmap]
rs17756914	1.00[CHB][hapmap]
rs957258	1.00[CHB][hapmap];0.90[CHD][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	nsv1329	chr14:69142476-69176987	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1274762	ZBTB25	cis	parietal	SCAN
rs1274762	SLC39A9	cis	cerebellum	SCAN

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69141400-69156800	Enhancers	Placenta	Placenta
2	chr14:69146600-69157400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:69147000-69157400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:69147200-69157600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr14:69148000-69157200	Enhancers	HMEC	breast
6	chr14:69149200-69157600	Enhancers	HSMM	muscle
7	chr14:69149800-69156200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:69150200-69157600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr14:69150400-69155800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr14:69150600-69157800	Enhancers	HSMMtube	muscle
11	chr14:69151600-69157000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr14:69152200-69155800	Weak transcription	Spleen	Spleen
13	chr14:69152400-69159600	Weak transcription	Gastric	stomach
14	chr14:69153000-69156000	Weak transcription	Primary T cells from cord blood	blood
15	chr14:69153000-69156200	Weak transcription	Stomach Mucosa	stomach
16	chr14:69153000-69157200	Enhancers	NHEK	skin
17	chr14:69153000-69171400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr14:69153200-69155800	Weak transcription	Pancreas	Pancrea
19	chr14:69153200-69155800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr14:69153200-69162200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr14:69153400-69159600	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr14:69153800-69155800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr14:69154000-69157400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:69154000-69157400	Enhancers	Fetal Muscle Trunk	muscle
25	chr14:69154200-69157400	Enhancers	NH-A	brain
26	chr14:69154200-69157400	Enhancers	NHDF-Ad	bronchial
27	chr14:69154200-69157400	Enhancers	NHLF	lung
28	chr14:69154200-69160600	Enhancers	Fetal Thymus	thymus
29	chr14:69154200-69161800	Enhancers	Fetal Muscle Leg	muscle
30	chr14:69154400-69156000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:69154400-69157200	Enhancers	Brain Germinal Matrix	brain
32	chr14:69154400-69157200	Enhancers	A549	lung
33	chr14:69154400-69159200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:69154400-69161800	Enhancers	Fetal Stomach	stomach
35	chr14:69154600-69157400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:69154600-69159600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr14:69154800-69156200	Enhancers	Hela-S3	cervix
38	chr14:69154800-69159800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:69155000-69156000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr14:69155000-69156200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr14:69155000-69156200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr14:69155000-69158800	Enhancers	Fetal Brain Male	brain
43	chr14:69155000-69159200	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr14:69155200-69156600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr14:69155200-69156600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr14:69155200-69157400	Enhancers	Fetal Kidney	kidney
47	chr14:69155200-69158800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr14:69155200-69158800	Enhancers	Primary B cells from peripheral blood	blood
49	chr14:69155400-69155800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr14:69155400-69155800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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