Variant report

Variant	rs1276120
Chromosome Location	chr14:70398892-70398893
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1276114	0.83[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs1276115	0.83[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs1276116	0.83[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs1276121	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1314983	0.83[CHB][hapmap];0.89[CHD][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs190133	0.95[CHB][hapmap];0.98[CHD][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs1951510	0.80[ASN][1000 genomes]
rs227388	0.95[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap];0.88[MEX][hapmap];0.88[ASN][1000 genomes]
rs227395	0.88[CHD][hapmap]
rs227396	0.88[CHD][hapmap];0.80[MEX][hapmap]
rs227397	0.86[CHD][hapmap]
rs227398	0.85[CHD][hapmap];0.83[MEX][hapmap]
rs927414	0.91[CHB][hapmap];0.93[CHD][hapmap]
rs962959	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1276120	C14orf162	cis	cerebellum	SCAN
rs1276120	FAM71D	cis	cerebellum	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70395000-70400800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:70395000-70402400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:70395200-70400200	Weak transcription	HepG2	liver
4	chr14:70395200-70404200	Weak transcription	Spleen	Spleen
5	chr14:70395600-70404400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr14:70396000-70404200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:70396400-70399600	Weak transcription	Hela-S3	cervix
8	chr14:70396600-70400800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:70396800-70399800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:70396800-70400400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr14:70397200-70399400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:70397200-70399800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr14:70397200-70400200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:70397400-70406400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:70397600-70399000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr14:70397800-70400000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:70398200-70402000	Weak transcription	Psoas Muscle	Psoas
18	chr14:70398400-70399000	Enhancers	Brain Germinal Matrix	brain
19	chr14:70398400-70399400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr14:70398400-70399600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:70398400-70409400	Enhancers	Liver	Liver
22	chr14:70398600-70399200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:70398600-70399600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:70398600-70399800	Enhancers	Fetal Brain Male	brain
25	chr14:70398800-70399000	Enhancers	Brain Hippocampus Middle	brain
26	chr14:70398800-70399000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr14:70398800-70399400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:70398800-70399400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:70398800-70399400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
30	chr14:70398800-70399400	Enhancers	Brain Substantia Nigra	brain
31	chr14:70398800-70399600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr14:70398800-70403000	Weak transcription	Placenta	Placenta

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