Variant report

Variant	rs1381318
Chromosome Location	chr14:25322599-25322600
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10133078	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10136693	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10138734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12433081	0.85[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1381319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1887935	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2282034	0.85[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2297059	0.82[CEU][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2877685	0.85[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3759642	0.85[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3759643	0.85[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.82[GIH][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55951119	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6574019	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6574033	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs749595	0.85[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs766668	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8014742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016612	0.85[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs872978	0.85[CEU][hapmap];0.84[CHB][hapmap];0.96[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs872979	0.85[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9319	0.85[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901504	chr14:25184210-25646203	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv901505	chr14:25237268-25360584	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv901506	chr14:25295551-25377188	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25288600-25322800	Weak transcription	Placenta	Placenta
2	chr14:25309000-25328000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr14:25309800-25323000	Weak transcription	Pancreas	Pancrea
4	chr14:25309800-25324400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:25313800-25323400	Weak transcription	Small Intestine	intestine
6	chr14:25314600-25333600	Weak transcription	Lung	lung
7	chr14:25315600-25330400	Weak transcription	Brain Angular Gyrus	brain
8	chr14:25315800-25324200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr14:25316000-25330400	Weak transcription	Brain Hippocampus Middle	brain
10	chr14:25317800-25323000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr14:25317800-25344000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:25318000-25328400	Weak transcription	Right Ventricle	heart
13	chr14:25318200-25330200	Weak transcription	Fetal Heart	heart
14	chr14:25319000-25330400	Weak transcription	Adipose Nuclei	Adipose
15	chr14:25319600-25344600	Weak transcription	NHDF-Ad	bronchial
16	chr14:25320000-25326000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr14:25320000-25330200	Weak transcription	HSMMtube	muscle
18	chr14:25320200-25323400	Enhancers	Fetal Intestine Large	intestine
19	chr14:25320600-25322600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr14:25320800-25322600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr14:25320800-25322800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr14:25320800-25323000	Strong transcription	Left Ventricle	heart
23	chr14:25320800-25323000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr14:25320800-25323400	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr14:25320800-25323600	Enhancers	Fetal Intestine Small	intestine
26	chr14:25320800-25323800	Enhancers	Duodenum Mucosa	Duodenum
27	chr14:25320800-25323800	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr14:25320800-25324200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr14:25321000-25322600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr14:25321000-25322600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr14:25321000-25322800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr14:25321000-25322800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr14:25321000-25328200	Weak transcription	NH-A	brain
34	chr14:25321200-25322600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr14:25321200-25325200	Strong transcription	Placenta Amnion	Placenta Amnion
36	chr14:25321400-25330200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:25321600-25324000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:25321600-25325400	Strong transcription	HepG2	liver
39	chr14:25321600-25328200	Weak transcription	Brain Anterior Caudate	brain
40	chr14:25321600-25333600	Weak transcription	Fetal Muscle Leg	muscle
41	chr14:25321800-25322800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr14:25321800-25323000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:25321800-25323000	Weak transcription	Fetal Lung	lung
44	chr14:25321800-25323400	Weak transcription	HSMM	muscle
45	chr14:25321800-25326200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:25321800-25327000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr14:25322000-25330400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr14:25322400-25322600	Enhancers	Colonic Mucosa	Colon
49	chr14:25322400-25326200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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