Variant report

Variant	rs12891546
Chromosome Location	chr14:64405794-64405795
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11158519	0.86[MEX][hapmap]
rs12588807	1.00[CEU][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12589453	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12878037	1.00[CEU][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12881815	0.85[CEU][hapmap]
rs12881942	0.84[EUR][1000 genomes]
rs12882429	1.00[CEU][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12884607	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12891564	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12894963	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17751301	1.00[CEU][hapmap];0.87[TSI][hapmap];0.86[EUR][1000 genomes]
rs17824172	0.86[EUR][1000 genomes]
rs17824268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs28361911	0.81[AFR][1000 genomes]
rs33976862	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34029894	0.86[EUR][1000 genomes]
rs34215796	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34753731	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34846154	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34902500	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35009554	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35581544	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3818774	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3866736	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4459477	0.87[CEU][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap]
rs4899120	0.87[CEU][hapmap];0.85[JPT][hapmap]
rs60417638	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6573539	0.81[EUR][1000 genomes]
rs8015210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8023195	0.86[JPT][hapmap]
rs9796357	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1038825	chr14:64109441-64491720	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037140	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv542119	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv564904	chr14:64346190-64416898	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv1793389	chr14:64346190-64457224	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12891546	C14orf50	cis	lymphoblastoid	seeQTL

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64365000-64430200	Weak transcription	Fetal Brain Male	brain
2	chr14:64376000-64416200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr14:64378000-64416200	Weak transcription	Fetal Lung	lung
4	chr14:64378400-64416000	Weak transcription	Primary B cells from cord blood	blood
5	chr14:64379800-64409000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr14:64387000-64416400	Weak transcription	Aorta	Aorta
7	chr14:64390200-64416400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr14:64390600-64418800	Weak transcription	HepG2	liver
9	chr14:64390800-64408600	Weak transcription	Fetal Intestine Large	intestine
10	chr14:64392000-64409000	Weak transcription	Fetal Intestine Small	intestine
11	chr14:64393200-64419800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:64393800-64414800	Weak transcription	Fetal Muscle Leg	muscle
13	chr14:64395000-64491000	Weak transcription	Psoas Muscle	Psoas
14	chr14:64395600-64408000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:64396000-64408400	Weak transcription	Fetal Kidney	kidney
16	chr14:64396000-64418600	Weak transcription	Fetal Heart	heart
17	chr14:64396800-64407200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:64397400-64409000	Weak transcription	Fetal Stomach	stomach
19	chr14:64400000-64409000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr14:64400000-64416400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr14:64400000-64419800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr14:64400200-64407200	Weak transcription	Liver	Liver
23	chr14:64400400-64408000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr14:64400400-64409600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr14:64400600-64407800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr14:64400800-64407800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr14:64400800-64417800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr14:64401000-64408400	Weak transcription	Brain Germinal Matrix	brain
29	chr14:64401000-64416200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr14:64401000-64416400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr14:64401400-64407200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:64401400-64407600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr14:64401400-64407800	Weak transcription	Ovary	ovary
34	chr14:64401400-64408600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr14:64401400-64408600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr14:64401400-64408600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr14:64401400-64408800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:64401400-64409000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr14:64401400-64430200	Weak transcription	Stomach Mucosa	stomach
40	chr14:64401600-64416600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:64401600-64427800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr14:64401800-64407000	Weak transcription	Fetal Brain Female	brain
43	chr14:64401800-64407600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr14:64402000-64407400	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr14:64403000-64407400	Enhancers	Primary T cells fromperipheralblood	blood
46	chr14:64403000-64408400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr14:64403000-64408600	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr14:64403000-64408800	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr14:64403200-64406000	Enhancers	Spleen	Spleen
50	chr14:64403200-64408400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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