Variant report

Variant	rs1201387
Chromosome Location	chr14:56470525-56470526
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	chr14:56467248..56469891-chr14:56470182..56472447,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1188175	0.80[ASN][1000 genomes]
rs1188176	0.80[ASN][1000 genomes]
rs1188179	0.80[ASN][1000 genomes]
rs1188180	0.80[ASN][1000 genomes]
rs1188181	0.80[ASN][1000 genomes]
rs1188188	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1188194	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1188196	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1188198	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1188199	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1188200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1188203	0.96[CEU][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1188204	0.89[CEU][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1188206	0.83[ASN][1000 genomes]
rs1211177	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1211455	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1212200	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1212974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12432868	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1480657	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1480658	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1480659	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1623669	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1630156	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1679800	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1679801	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1679807	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1679809	0.85[EUR][1000 genomes]
rs1679810	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1679811	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1756622	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1756624	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1756625	0.87[EUR][1000 genomes]
rs1756628	0.89[EUR][1000 genomes]
rs1756630	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1756631	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1952892	0.84[EUR][1000 genomes]
rs60269373	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs922655	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901977	chr14:56213392-56492996	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv34106	chr14:56346245-56550642	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56466400-56471000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr14:56468200-56473000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr14:56468400-56471400	Enhancers	NH-A	brain
4	chr14:56468600-56472200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr14:56468800-56471000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:56468800-56471600	Enhancers	Brain Germinal Matrix	brain
7	chr14:56468800-56471800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr14:56468800-56472000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr14:56468800-56472400	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr14:56468800-56472600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
11	chr14:56468800-56472800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:56469000-56471600	Enhancers	Fetal Intestine Small	intestine
13	chr14:56469000-56472000	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr14:56469000-56472000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr14:56469000-56472200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr14:56469000-56472400	Enhancers	Fetal Brain Male	brain
17	chr14:56469000-56472600	Bivalent Enhancer	Fetal Thymus	thymus
18	chr14:56469200-56470800	Flanking Active TSS	Dnd41	blood
19	chr14:56469200-56471400	Enhancers	Fetal Brain Female	brain
20	chr14:56469400-56471400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:56469400-56471800	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr14:56469400-56471800	Enhancers	Fetal Intestine Large	intestine
23	chr14:56469600-56471000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:56469600-56471400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:56469600-56473200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr14:56469800-56470800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:56469800-56470800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:56469800-56470800	Weak transcription	Osteobl	bone
29	chr14:56469800-56471800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr14:56470000-56471200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:56470000-56472800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:56470200-56470600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr14:56470200-56470600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr14:56470200-56470800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr14:56470200-56471200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr14:56470200-56472400	Enhancers	GM12878-XiMat	blood
37	chr14:56470400-56470600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
38	chr14:56470400-56471200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr14:56470400-56471600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr14:56470400-56471600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr14:56470400-56472400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
42	chr14:56470400-56473000	Enhancers	Fetal Muscle Leg	muscle
43	chr14:56470400-56473000	Enhancers	Stomach Mucosa	stomach

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