Variant report

Variant	rs111743993
Chromosome Location	chr14:70352158-70352159
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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	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
4	nsv976351	chr14:70349344-70353065	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	esv3335532	chr14:70351055-70356429	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a
6	esv3530187	chr14:70351090-70356419	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a
7	esv3530188	chr14:70351121-70356378	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a
8	esv3530189	chr14:70351121-70356378	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70348000-70354200	Weak transcription	Psoas Muscle	Psoas
2	chr14:70348400-70353400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:70349000-70353000	Weak transcription	Brain Substantia Nigra	brain
4	chr14:70349200-70353000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr14:70349400-70353000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:70349400-70353400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:70349400-70354000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr14:70349600-70352800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:70349600-70353200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:70349600-70353400	Weak transcription	Fetal Brain Male	brain
11	chr14:70349600-70354800	Weak transcription	Fetal Brain Female	brain
12	chr14:70349600-70356000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:70349800-70352800	Weak transcription	Fetal Stomach	stomach
14	chr14:70350000-70353000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr14:70350000-70355000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:70350200-70361600	Weak transcription	Brain Germinal Matrix	brain
17	chr14:70350600-70353000	Weak transcription	Liver	Liver
18	chr14:70351200-70352600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:70351200-70352800	Weak transcription	Hela-S3	cervix
20	chr14:70351200-70353000	Weak transcription	HepG2	liver
21	chr14:70351600-70354000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:70351800-70353000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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