Variant report

Variant	rs17617994
Chromosome Location	chr14:103959289-103959290
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17679127	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17679259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2296485	1.00[JPT][hapmap]
rs3759582	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014182	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
3	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	esv1835815	chr14:103942991-103989757	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers 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	29 gene(s)	inside rSNPs	diseases
5	nsv1044967	chr14:103954727-104007051	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	esv1807091	chr14:103956182-104020454	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	esv1835824	chr14:103956182-104020454	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv902297	chr14:103956182-104061646	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	nsv902298	chr14:103959289-104061646	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17617994	C14orf153	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103923200-103976800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:103923600-103967000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr14:103926800-103963400	Strong transcription	Fetal Intestine Large	intestine
4	chr14:103927800-103979800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:103939200-103966200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr14:103942800-103966400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:103943200-103969200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr14:103944400-103962200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:103945400-103962800	Strong transcription	Thymus	Thymus
10	chr14:103946400-103964400	Strong transcription	Fetal Thymus	thymus
11	chr14:103946800-103963800	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr14:103947200-103963800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr14:103947600-103966600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:103947600-103967400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:103947600-103972800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr14:103947600-103980000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr14:103947800-103966000	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr14:103948600-103961000	Weak transcription	A549	lung
19	chr14:103950400-103961400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:103950400-103962200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:103950400-103978800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:103950600-103966600	Strong transcription	Fetal Stomach	stomach
23	chr14:103950600-103979000	Strong transcription	Fetal Intestine Small	intestine
24	chr14:103951200-103966000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr14:103951600-103960000	Strong transcription	NHEK	skin
26	chr14:103951600-103972600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:103951600-103972800	Strong transcription	Dnd41	blood
28	chr14:103951600-103976600	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr14:103951800-103959800	Strong transcription	HSMM	muscle
30	chr14:103951800-103960000	Strong transcription	Hela-S3	cervix
31	chr14:103951800-103960000	Strong transcription	HMEC	breast
32	chr14:103951800-103962800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr14:103951800-103963000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr14:103952200-103962200	Strong transcription	Left Ventricle	heart
35	chr14:103952200-103966600	Weak transcription	Stomach Mucosa	stomach
36	chr14:103952400-103962600	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr14:103952400-103968600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr14:103953000-103972800	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr14:103953400-103962800	Strong transcription	Primary B cells from peripheral blood	blood
40	chr14:103953600-103959600	Strong transcription	Primary hematopoietic stem cells	blood
41	chr14:103953600-103959800	Strong transcription	GM12878-XiMat	blood
42	chr14:103953600-103962200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:103953600-103962400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr14:103953600-103962400	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr14:103953600-103962400	Strong transcription	Placenta	Placenta
46	chr14:103953600-103962400	Strong transcription	Placenta Amnion	Placenta Amnion
47	chr14:103953600-103962600	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr14:103953600-103963200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:103953600-103966600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr14:103953800-103959600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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