Variant report

Variant	rs1057605
Chromosome Location	chr14:20755287-20755288
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs1000608	0.88[ASN][1000 genomes]
rs1132644	0.87[CHD][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs11623318	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11845291	0.81[ASN][1000 genomes]
rs12589751	0.94[EUR][1000 genomes]
rs12888889	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12889262	0.87[CHD][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs12890140	0.88[ASN][1000 genomes]
rs1953549	0.87[ASN][1000 genomes]
rs1953552	0.81[CHB][hapmap];0.91[CHD][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs2001572	0.85[ASN][1000 genomes]
rs3784244	0.87[CHD][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs4451865	0.80[ASN][1000 genomes]
rs71410222	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[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	nsv901299	chr14:20191869-20756887	Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
4	nsv1043938	chr14:20427182-20776276	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv541971	chr14:20427182-20776276	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1037160	chr14:20517485-20901811	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
7	nsv541974	chr14:20517485-20901811	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
8	nsv869984	chr14:20732655-20776216	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv1806993	chr14:20743269-20841162	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1057605	OR5AU1	cis	parietal	SCAN
rs1057605	CCNB1IP1	cis	cerebellum	SCAN
rs1057605	PARP2	cis	parietal	SCAN
rs1057605	PARP2	cis	cerebellum	SCAN
rs1057605	CCNB1IP1	cis	parietal	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20731400-20755600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr14:20731400-20757000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:20741200-20756400	Weak transcription	Gastric	stomach
4	chr14:20741200-20757400	Weak transcription	Right Ventricle	heart
5	chr14:20741400-20755800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr14:20742400-20756600	Weak transcription	Spleen	Spleen
7	chr14:20742400-20759000	Weak transcription	Colon Smooth Muscle	Colon
8	chr14:20742600-20756400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:20742800-20755800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr14:20742800-20756600	Weak transcription	Colonic Mucosa	Colon
11	chr14:20742800-20756600	Weak transcription	Lung	lung
12	chr14:20743000-20756800	Weak transcription	Osteobl	bone
13	chr14:20743600-20761800	Weak transcription	Psoas Muscle	Psoas
14	chr14:20743800-20756400	Weak transcription	Thymus	Thymus
15	chr14:20744000-20755400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:20744000-20755400	Weak transcription	A549	lung
17	chr14:20744000-20757000	Weak transcription	Brain Substantia Nigra	brain
18	chr14:20744200-20756800	Weak transcription	HSMMtube	muscle
19	chr14:20745200-20755400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr14:20745200-20756800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr14:20745800-20755800	Weak transcription	NH-A	brain
22	chr14:20746200-20755600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:20746200-20763400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:20746400-20764000	Weak transcription	Fetal Brain Male	brain
25	chr14:20746600-20759000	Weak transcription	Brain Germinal Matrix	brain
26	chr14:20746600-20773200	Weak transcription	Stomach Mucosa	stomach
27	chr14:20747000-20755400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr14:20747000-20756800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:20747000-20757400	Weak transcription	NHEK	skin
30	chr14:20747200-20759400	Weak transcription	HMEC	breast
31	chr14:20747200-20761800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr14:20747200-20766800	Weak transcription	K562	blood
33	chr14:20748000-20766600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr14:20748600-20756800	Weak transcription	Placenta	Placenta
35	chr14:20748600-20757200	Weak transcription	Fetal Intestine Small	intestine
36	chr14:20748800-20757000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr14:20749000-20755400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr14:20749000-20755400	Weak transcription	Ovary	ovary
39	chr14:20749000-20756600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr14:20749000-20756800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr14:20749000-20757000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr14:20749000-20757000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr14:20749000-20757600	Weak transcription	Esophagus	oesophagus
44	chr14:20749000-20761400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr14:20749000-20763400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr14:20749000-20763400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr14:20749000-20766800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:20749200-20755400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr14:20749200-20755400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr14:20749200-20757000	Weak transcription	Fetal Muscle Leg	muscle

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