Variant report

Variant	rs1255886
Chromosome Location	chr14:64429947-64429948
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11624124	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11844554	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11850427	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1255855	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1255858	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1255859	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1255860	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1255861	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1255862	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1255863	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1255864	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1255865	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255866	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255868	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1255870	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1255889	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1255893	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1255894	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1255895	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1255897	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1255899	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1255904	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1255906	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1255907	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1255909	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1255911	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1255912	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1262234	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1262236	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1273191	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1273193	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2094834	0.83[AMR][1000 genomes]
rs2275019	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2775000	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2775001	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2775004	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2781426	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2781427	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2792207	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2884112	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2884113	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4027383	0.93[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4027384	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4902253	0.81[CEU][hapmap]
rs61984086	0.82[EUR][1000 genomes]
rs7142401	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7156778	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7159878	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7161272	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8010312	0.92[CEU][hapmap]
rs8022079	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8022635	0.85[EUR][1000 genomes]
rs945025	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs945029	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs946916	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1037140	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv542119	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv1793389	chr14:64346190-64457224	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64365000-64430200	Weak transcription	Fetal Brain Male	brain
2	chr14:64395000-64491000	Weak transcription	Psoas Muscle	Psoas
3	chr14:64401400-64430200	Weak transcription	Stomach Mucosa	stomach
4	chr14:64403600-64432800	Weak transcription	Lung	lung
5	chr14:64406200-64434400	Weak transcription	Hela-S3	cervix
6	chr14:64408200-64432000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:64408400-64430200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr14:64414400-64439600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:64415400-64435800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:64415600-64439000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr14:64416800-64458600	Weak transcription	Gastric	stomach
12	chr14:64417000-64430800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr14:64417000-64459200	Weak transcription	NHEK	skin
14	chr14:64417000-64466000	Weak transcription	Colon Smooth Muscle	Colon
15	chr14:64417200-64458600	Weak transcription	Esophagus	oesophagus
16	chr14:64417400-64466200	Weak transcription	Right Ventricle	heart
17	chr14:64417600-64459200	Weak transcription	Pancreas	Pancrea
18	chr14:64418000-64435000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr14:64418000-64463000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:64418200-64450800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr14:64418400-64458600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:64419000-64432200	Weak transcription	Fetal Thymus	thymus
23	chr14:64419000-64432800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr14:64419000-64433000	Weak transcription	Fetal Intestine Small	intestine
25	chr14:64419000-64463000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr14:64419200-64432000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:64419200-64438800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr14:64419200-64489000	Weak transcription	Small Intestine	intestine
29	chr14:64419400-64448200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr14:64419400-64459000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:64419400-64459200	Weak transcription	HMEC	breast
32	chr14:64420000-64458000	Weak transcription	Colonic Mucosa	Colon
33	chr14:64420200-64430200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr14:64420200-64432200	Weak transcription	Spleen	Spleen
35	chr14:64420200-64432200	Weak transcription	GM12878-XiMat	blood
36	chr14:64420200-64433800	Weak transcription	Brain Germinal Matrix	brain
37	chr14:64420200-64442400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:64420200-64459000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:64420600-64432000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr14:64420600-64462600	Weak transcription	HUVEC	blood vessel
41	chr14:64420800-64430200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr14:64421200-64430200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr14:64421600-64466000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr14:64421800-64430000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr14:64423400-64430200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr14:64423400-64444400	Weak transcription	Liver	Liver
47	chr14:64423600-64431800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:64423600-64431800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr14:64423600-64434000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr14:64423800-64444400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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