Variant report

Variant	rs1255909
Chromosome Location	chr14:64459295-64459296
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11624124	0.83[EUR][1000 genomes]
rs11844554	0.86[EUR][1000 genomes]
rs11850427	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1255855	0.85[EUR][1000 genomes]
rs1255858	0.88[EUR][1000 genomes]
rs1255859	0.88[EUR][1000 genomes]
rs1255860	0.88[EUR][1000 genomes]
rs1255861	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1255862	0.92[EUR][1000 genomes]
rs1255863	0.92[EUR][1000 genomes]
rs1255864	0.92[EUR][1000 genomes]
rs1255865	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1255866	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1255868	0.85[EUR][1000 genomes]
rs1255870	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1255886	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1255889	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1255893	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1255894	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1255895	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1255897	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1255898	0.81[EUR][1000 genomes]
rs1255899	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1255904	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1255906	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1255907	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1255911	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1255912	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1262234	0.87[EUR][1000 genomes]
rs1262236	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1273193	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2275019	0.87[EUR][1000 genomes]
rs2775000	0.88[EUR][1000 genomes]
rs2775001	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2775004	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2781426	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2781427	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2792207	0.88[EUR][1000 genomes]
rs2884113	0.87[EUR][1000 genomes]
rs4027383	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4027384	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7142401	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7156778	0.88[EUR][1000 genomes]
rs7159878	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7161272	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8022079	0.83[EUR][1000 genomes]
rs8022635	0.89[EUR][1000 genomes]
rs945025	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs945029	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs946916	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1038825	chr14:64109441-64491720	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv902020	chr14:64434288-64506541	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64395000-64491000	Weak transcription	Psoas Muscle	Psoas
2	chr14:64417000-64466000	Weak transcription	Colon Smooth Muscle	Colon
3	chr14:64417400-64466200	Weak transcription	Right Ventricle	heart
4	chr14:64418000-64463000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:64419000-64463000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr14:64419200-64489000	Weak transcription	Small Intestine	intestine
7	chr14:64420600-64462600	Weak transcription	HUVEC	blood vessel
8	chr14:64421600-64466000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:64423800-64463000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:64428400-64459400	Weak transcription	Aorta	Aorta
11	chr14:64431200-64463800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr14:64431200-64464800	Weak transcription	Stomach Mucosa	stomach
13	chr14:64433400-64465800	Weak transcription	Fetal Heart	heart
14	chr14:64435200-64471800	Weak transcription	Hela-S3	cervix
15	chr14:64435400-64463600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr14:64439200-64465600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr14:64439600-64462800	Weak transcription	Fetal Brain Male	brain
18	chr14:64439800-64467800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr14:64440800-64466000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr14:64440800-64480400	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr14:64441600-64467600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr14:64442400-64491000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr14:64445200-64459600	Weak transcription	Ovary	ovary
24	chr14:64445800-64463800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr14:64449200-64466200	Weak transcription	Spleen	Spleen
26	chr14:64449600-64459400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr14:64450000-64465800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr14:64452400-64480600	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr14:64452600-64479200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr14:64454000-64459400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr14:64456600-64462800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:64456600-64468200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr14:64456800-64461000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr14:64456800-64466000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:64457000-64470600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr14:64457000-64474600	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr14:64457000-64480000	Strong transcription	Dnd41	blood
38	chr14:64457000-64502000	Strong transcription	Placenta	Placenta
39	chr14:64457000-64519200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr14:64457200-64459400	Strong transcription	Fetal Intestine Large	intestine
41	chr14:64457200-64460000	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr14:64457200-64460800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr14:64457200-64461200	Strong transcription	Left Ventricle	heart
44	chr14:64457200-64465600	Strong transcription	Thymus	Thymus
45	chr14:64457200-64470600	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr14:64457200-64476000	Strong transcription	Fetal Brain Female	brain
47	chr14:64457200-64480200	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr14:64457400-64460200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr14:64457400-64460400	Strong transcription	Fetal Stomach	stomach
50	chr14:64457600-64459600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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