Variant report

Variant	rs12880667
Chromosome Location	chr14:25315877-25315878
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10459539	0.93[CHB][hapmap]
rs11158950	0.81[CHB][hapmap]
rs12878320	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs12887071	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs12888023	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12889497	0.86[CEU][hapmap];0.88[EUR][1000 genomes]
rs12893848	0.88[EUR][1000 genomes]
rs17257465	0.93[CHB][hapmap]
rs2297061	0.86[CEU][hapmap];0.88[EUR][1000 genomes]
rs3783445	0.81[EUR][1000 genomes]
rs854329	0.85[CHB][hapmap]
rs854337	0.85[CHB][hapmap]
rs982467	0.92[CHB][hapmap]
rs982468	0.93[CHB][hapmap]

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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25288600-25322800	Weak transcription	Placenta	Placenta
2	chr14:25288800-25317400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:25306600-25321200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:25307200-25319400	Weak transcription	Fetal Muscle Leg	muscle
5	chr14:25308800-25316800	Weak transcription	Fetal Lung	lung
6	chr14:25309000-25328000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr14:25309600-25316800	Weak transcription	Fetal Brain Male	brain
8	chr14:25309800-25317000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:25309800-25323000	Weak transcription	Pancreas	Pancrea
10	chr14:25309800-25324400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:25310000-25321000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:25310200-25320800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr14:25313200-25319200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr14:25313600-25317400	Weak transcription	Right Ventricle	heart
15	chr14:25313800-25320800	Weak transcription	Left Ventricle	heart
16	chr14:25313800-25323400	Weak transcription	Small Intestine	intestine
17	chr14:25314000-25317400	Weak transcription	Fetal Heart	heart
18	chr14:25314400-25316200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:25314600-25316000	Enhancers	Fetal Intestine Small	intestine
20	chr14:25314600-25316000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr14:25314600-25333600	Weak transcription	Lung	lung
22	chr14:25315000-25316000	Enhancers	Brain Hippocampus Middle	brain
23	chr14:25315000-25317400	Enhancers	HSMMtube	muscle
24	chr14:25315000-25317600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr14:25315000-25319600	Enhancers	Brain Anterior Caudate	brain
26	chr14:25315200-25316800	Weak transcription	NH-A	brain
27	chr14:25315400-25316400	Weak transcription	HSMM	muscle
28	chr14:25315400-25316600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:25315400-25317400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr14:25315400-25319200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr14:25315400-25319400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr14:25315400-25320800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:25315600-25317400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr14:25315600-25320800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr14:25315600-25321000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr14:25315600-25321400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr14:25315600-25330400	Weak transcription	Brain Angular Gyrus	brain
38	chr14:25315800-25316800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:25315800-25317000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr14:25315800-25318000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr14:25315800-25320200	Weak transcription	Fetal Intestine Large	intestine
42	chr14:25315800-25320800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:25315800-25320800	Weak transcription	HepG2	liver
44	chr14:25315800-25324200	Weak transcription	Brain Cingulate Gyrus	brain

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