Variant report

Variant	rs17106672
Chromosome Location	chr14:69455505-69455506
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11846184	1.00[ASN][1000 genomes]
rs12888526	1.00[ASN][1000 genomes]
rs17106508	1.00[ASN][1000 genomes]
rs17106536	1.00[ASN][1000 genomes]
rs17106678	0.93[GIH][hapmap];1.00[ASN][1000 genomes]
rs2013734	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61180170	1.00[ASN][1000 genomes]
rs7152086	1.00[ASN][1000 genomes]
rs72733553	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72733556	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73284973	1.00[ASN][1000 genomes]
rs73284974	1.00[ASN][1000 genomes]
rs8009211	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17106672	SRSF5	cis	cerebellum	SCAN
rs17106672	ADAM21	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69447000-69471400	Weak transcription	Esophagus	oesophagus
2	chr14:69449200-69458400	Weak transcription	HUVEC	blood vessel
3	chr14:69453200-69456400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:69453400-69460600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr14:69454000-69455600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:69454400-69455600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:69454400-69455600	Enhancers	HMEC	breast
8	chr14:69454400-69455800	Enhancers	HepG2	liver
9	chr14:69454400-69456000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:69454400-69456000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:69454400-69456200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:69454400-69456400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr14:69454600-69455800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:69454600-69456000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr14:69454800-69455600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr14:69454800-69455800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr14:69454800-69456200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:69454800-69456200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr14:69454800-69457400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr14:69454800-69461200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr14:69455000-69456000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:69455200-69455600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:69455400-69456200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:69455400-69456400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:69455400-69456600	Enhancers	HUES64 Cell Line	embryonic stem cell

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