Variant report

Variant	rs1255957
Chromosome Location	chr14:64546757-64546758
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10132638	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10136783	0.84[MEX][hapmap]
rs10138253	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10145787	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10151127	0.84[CEU][hapmap];0.82[TSI][hapmap]
rs11621129	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1255949	0.85[CEU][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1255953	0.85[CEU][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1255954	1.00[CEU][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1255956	0.95[AFR][1000 genomes]
rs1255959	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1255960	0.84[GIH][hapmap]
rs1255961	0.84[GIH][hapmap]
rs1255962	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1255963	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1255965	0.92[CEU][hapmap];0.81[GIH][hapmap];0.96[TSI][hapmap];0.80[EUR][1000 genomes]
rs1255966	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1255967	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1255969	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1255970	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1255971	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1255972	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1255974	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1255975	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1262240	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];0.83[MKK][hapmap];0.96[TSI][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1266925	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17101637	0.84[MEX][hapmap]
rs17101640	0.84[MEX][hapmap]
rs17101651	0.84[MEX][hapmap]
rs1890908	0.84[GIH][hapmap]
rs1954051	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2153476	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2185453	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2357342	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2357343	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2357344	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2357345	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28607037	0.80[ASN][1000 genomes]
rs28669707	0.82[EUR][1000 genomes]
rs2884158	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3829767	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4027402	0.92[CEU][hapmap];0.92[CHB][hapmap];0.93[MEX][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4027403	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4027404	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap]
rs4027405	0.84[CEU][hapmap];0.82[TSI][hapmap]
rs4566057	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4617770	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4899132	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4902264	0.92[CEU][hapmap];0.89[TSI][hapmap];0.80[EUR][1000 genomes]
rs6573543	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7158401	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7158815	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8010699	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8010911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8011969	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8016043	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs963289	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9783605	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64466600-64593200	Weak transcription	Colon Smooth Muscle	Colon
2	chr14:64481400-64574000	Weak transcription	Stomach Mucosa	stomach
3	chr14:64489400-64568600	Weak transcription	Small Intestine	intestine
4	chr14:64491200-64565200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr14:64492200-64547400	Weak transcription	Colonic Mucosa	Colon
6	chr14:64519400-64592000	Weak transcription	Fetal Brain Male	brain
7	chr14:64525400-64566600	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr14:64526000-64552200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr14:64526800-64577000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr14:64527000-64547200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr14:64527600-64551800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:64527800-64549000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr14:64527800-64552000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:64527800-64556600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:64528000-64557000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr14:64528000-64567400	Weak transcription	Fetal Heart	heart
17	chr14:64528400-64547000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr14:64529000-64553200	Strong transcription	Dnd41	blood
19	chr14:64529400-64566800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr14:64536800-64552200	Strong transcription	Placenta	Placenta
21	chr14:64539600-64549400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:64539600-64552400	Weak transcription	Brain Anterior Caudate	brain
23	chr14:64541200-64547400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:64541200-64547400	Weak transcription	Right Ventricle	heart
25	chr14:64541400-64547200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:64541400-64549200	Weak transcription	Psoas Muscle	Psoas
27	chr14:64541600-64546800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr14:64541600-64547000	Weak transcription	Spleen	Spleen
29	chr14:64541600-64547200	Weak transcription	Esophagus	oesophagus
30	chr14:64541600-64547400	Weak transcription	Aorta	Aorta
31	chr14:64541600-64547400	Weak transcription	Gastric	stomach
32	chr14:64541600-64547600	Weak transcription	Pancreas	Pancrea
33	chr14:64541600-64549200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:64541800-64546800	Weak transcription	Liver	Liver
35	chr14:64541800-64547000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr14:64541800-64547200	Weak transcription	Lung	lung
37	chr14:64541800-64547400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr14:64542000-64547200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr14:64542200-64546800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr14:64542200-64548000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:64542200-64557800	Weak transcription	HMEC	breast
42	chr14:64542400-64548000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr14:64542600-64547200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr14:64542600-64547200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr14:64542600-64549000	Weak transcription	HSMM	muscle
46	chr14:64542600-64550600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr14:64542600-64552000	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr14:64542800-64547000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr14:64542800-64547000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr14:64542800-64547000	Weak transcription	Placenta Amnion	Placenta Amnion

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