Variant report

Variant	rs1188201
Chromosome Location	chr14:56469604-56469605
allele	A/G
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	BHLHE40	chr14:56469594-56470188	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56467248..56469891-chr14:56470182..56472447,2	K562	blood:

Variant related genes	Relation type
ENSG00000213622	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11622704	0.87[ASN][1000 genomes]
rs1188164	0.86[ASN][1000 genomes]
rs1188165	0.88[ASN][1000 genomes]
rs1188167	0.89[ASN][1000 genomes]
rs1188168	0.89[ASN][1000 genomes]
rs1188169	0.88[ASN][1000 genomes]
rs1188170	0.88[ASN][1000 genomes]
rs1188171	0.84[ASN][1000 genomes]
rs1188172	0.84[ASN][1000 genomes]
rs1188173	0.88[ASN][1000 genomes]
rs1188177	0.88[ASN][1000 genomes]
rs1188178	0.84[ASN][1000 genomes]
rs1188182	0.88[ASN][1000 genomes]
rs1188183	0.88[ASN][1000 genomes]
rs1188189	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1188195	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1188202	0.96[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1188205	0.84[CEU][hapmap];0.82[CHB][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8015854	0.82[ASN][1000 genomes]
rs922653	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs922654	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs922656	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs966880	0.89[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:33 , 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	chr14:56468600-56469800	Enhancers	Osteobl	bone
5	chr14:56468600-56470400	Enhancers	Primary T cells fromperipheralblood	blood
6	chr14:56468600-56472200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr14:56468800-56469800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr14:56468800-56470000	Enhancers	Primary T cells from cord blood	blood
9	chr14:56468800-56470200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr14:56468800-56471000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr14:56468800-56471600	Enhancers	Brain Germinal Matrix	brain
12	chr14:56468800-56471800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr14:56468800-56472000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr14:56468800-56472400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr14:56468800-56472600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
16	chr14:56468800-56472800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:56469000-56471600	Enhancers	Fetal Intestine Small	intestine
18	chr14:56469000-56472000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr14:56469000-56472000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr14:56469000-56472200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr14:56469000-56472400	Enhancers	Fetal Brain Male	brain
22	chr14:56469000-56472600	Bivalent Enhancer	Fetal Thymus	thymus
23	chr14:56469200-56470200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr14:56469200-56470800	Flanking Active TSS	Dnd41	blood
25	chr14:56469200-56471400	Enhancers	Fetal Brain Female	brain
26	chr14:56469400-56471400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:56469400-56471800	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr14:56469400-56471800	Enhancers	Fetal Intestine Large	intestine
29	chr14:56469600-56469800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:56469600-56469800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:56469600-56471000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:56469600-56471400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:56469600-56473200	Enhancers	HUES48 Cell Line	embryonic stem cell

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