Variant report

Variant	rs1188196
Chromosome Location	chr14:56471705-56471706
allele	A/C
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: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1188188	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1188194	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1188198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1188199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1188200	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1188203	0.88[EUR][1000 genomes]
rs1188204	0.88[EUR][1000 genomes]
rs1201387	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1211177	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1211455	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1212200	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1212974	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12432868	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1480657	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1480658	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1480659	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1623669	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1630156	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1679800	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1679801	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1679807	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1679809	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1679810	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1679811	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1756622	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1756624	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1756625	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1756628	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1756630	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1756631	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1952892	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60269373	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs922655	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56468200-56473000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr14:56468600-56472200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr14:56468800-56471800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr14:56468800-56472000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr14:56468800-56472400	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr14:56468800-56472600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
7	chr14:56468800-56472800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:56469000-56472000	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr14:56469000-56472000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr14:56469000-56472200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr14:56469000-56472400	Enhancers	Fetal Brain Male	brain
12	chr14:56469000-56472600	Bivalent Enhancer	Fetal Thymus	thymus
13	chr14:56469400-56471800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr14:56469400-56471800	Enhancers	Fetal Intestine Large	intestine
15	chr14:56469600-56473200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr14:56469800-56471800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr14:56470000-56472800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:56470200-56472400	Enhancers	GM12878-XiMat	blood
19	chr14:56470400-56472400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr14:56470400-56473000	Enhancers	Fetal Muscle Leg	muscle
21	chr14:56470400-56473000	Enhancers	Stomach Mucosa	stomach
22	chr14:56470600-56472600	Enhancers	Primary hematopoietic stem cells	blood
23	chr14:56470800-56471800	Enhancers	Adipose Nuclei	Adipose
24	chr14:56470800-56472600	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr14:56470800-56472800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:56470800-56473000	Enhancers	Dnd41	blood
27	chr14:56470800-56473200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr14:56471000-56471800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
29	chr14:56471000-56471800	Enhancers	Duodenum Mucosa	Duodenum
30	chr14:56471000-56472000	Active TSS	Brain Cingulate Gyrus	brain
31	chr14:56471000-56472400	Active TSS	Brain Anterior Caudate	brain
32	chr14:56471000-56472400	Enhancers	Fetal Kidney	kidney
33	chr14:56471000-56472800	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr14:56471000-56473000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr14:56471000-56473000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr14:56471000-56473200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr14:56471200-56472000	Enhancers	Small Intestine	intestine
38	chr14:56471200-56472200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr14:56471200-56472200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:56471200-56472400	Enhancers	Primary B cells from cord blood	blood
41	chr14:56471200-56472600	Flanking Active TSS	Osteobl	bone
42	chr14:56471200-56473000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr14:56471400-56471800	Active TSS	Fetal Brain Female	brain
44	chr14:56471400-56472000	Active TSS	Aorta	Aorta
45	chr14:56471400-56472200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr14:56471400-56472200	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr14:56471400-56472200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr14:56471400-56472200	Enhancers	HSMM	muscle
49	chr14:56471400-56472400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:56471400-56472400	Active TSS	Ovary	ovary

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