Variant report

Variant	rs1276119
Chromosome Location	chr14:70396881-70396882
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70390089..70391707-chr14:70394877..70397493,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs7142820	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs7148010	0.83[CHD][hapmap];0.82[JPT][hapmap]
rs7158965	0.80[ASN][1000 genomes]
rs8016072	0.83[CHD][hapmap];0.82[JPT][hapmap]

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
rs1276119	FAM71D	cis	parietal	SCAN
rs1276119	FAM71D	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70391000-70397400	Weak transcription	Brain Substantia Nigra	brain
2	chr14:70393200-70398000	Weak transcription	Liver	Liver
3	chr14:70394800-70398400	Weak transcription	Brain Germinal Matrix	brain
4	chr14:70394800-70398600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:70395000-70397000	Weak transcription	Brain Hippocampus Middle	brain
6	chr14:70395000-70398800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:70395000-70400800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:70395000-70402400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:70395200-70398600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:70395200-70400200	Weak transcription	HepG2	liver
11	chr14:70395200-70404200	Weak transcription	Spleen	Spleen
12	chr14:70395600-70397200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:70395600-70404400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:70395800-70397000	Weak transcription	Placenta	Placenta
15	chr14:70396000-70404200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:70396400-70399600	Weak transcription	Hela-S3	cervix
17	chr14:70396600-70398200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:70396600-70400800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:70396800-70397800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:70396800-70398200	Enhancers	Psoas Muscle	Psoas
21	chr14:70396800-70398200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr14:70396800-70399800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:70396800-70400400	Enhancers	Cortex derived primary cultured neurospheres	brain

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