Variant report

Variant	rs56183134
Chromosome Location	chr14:31907794-31907795
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31907031..31909539-chr14:31909575..31912143,2	K562	blood:
2	chr14:31905050..31906638-chr14:31906776..31909651,2	K562	blood:
3	chr14:31905050..31906707-chr14:31906776..31909428,2	K562	blood:
4	chr14:31906586..31908599-chr14:31913797..31916070,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10138925	0.89[ASN][1000 genomes]
rs10147284	0.94[ASN][1000 genomes]
rs11624231	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11851140	0.92[ASN][1000 genomes]
rs12891556	0.89[ASN][1000 genomes]
rs12891787	0.95[ASN][1000 genomes]
rs17097881	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17097892	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17097896	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17097898	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17555812	0.93[AFR][1000 genomes]
rs2094906	0.94[ASN][1000 genomes]
rs2274291	0.95[ASN][1000 genomes]
rs4981100	0.95[ASN][1000 genomes]
rs4981101	0.93[ASN][1000 genomes]
rs55864289	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72672674	0.93[AFR][1000 genomes]
rs8007946	0.94[ASN][1000 genomes]

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	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers 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 miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1042776	chr14:31844026-32003929	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv542019	chr14:31844026-32003929	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv931935	chr14:31871658-32117666	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1050774	chr14:31879687-32102906	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv934110	chr14:31887749-32109529	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv934206	chr14:31887749-32257097	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56183134	C14orf126	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31890400-31910400	Weak transcription	Placenta	Placenta
2	chr14:31890400-31910400	Weak transcription	Ovary	ovary
3	chr14:31890400-31917400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:31890400-31921200	Weak transcription	Psoas Muscle	Psoas
5	chr14:31890400-31925800	Weak transcription	Right Ventricle	heart
6	chr14:31890600-31910600	Weak transcription	Fetal Heart	heart
7	chr14:31890600-31919000	Weak transcription	Brain Anterior Caudate	brain
8	chr14:31890600-31919200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr14:31890600-31920600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr14:31890600-31922400	Weak transcription	Brain Angular Gyrus	brain
11	chr14:31890800-31920800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:31890800-31925200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr14:31896200-31919600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr14:31900400-31920200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:31901200-31910600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:31901200-31921200	Weak transcription	Brain Substantia Nigra	brain
17	chr14:31901200-31922400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:31901400-31913400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr14:31901400-31917000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr14:31901600-31916200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr14:31901600-31917000	Weak transcription	Brain Hippocampus Middle	brain
22	chr14:31901800-31908200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:31901800-31908800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr14:31901800-31913400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr14:31901800-31917200	Weak transcription	Fetal Muscle Leg	muscle
26	chr14:31901800-31920400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr14:31902000-31914600	Weak transcription	Fetal Brain Female	brain
28	chr14:31904600-31920600	Weak transcription	Left Ventricle	heart
29	chr14:31904600-31925200	Weak transcription	Fetal Brain Male	brain
30	chr14:31904800-31919600	Weak transcription	Fetal Lung	lung
31	chr14:31905000-31910600	Weak transcription	Adipose Nuclei	Adipose
32	chr14:31905000-31910800	Weak transcription	HSMM	muscle
33	chr14:31905000-31915200	Weak transcription	Primary B cells from peripheral blood	blood
34	chr14:31905000-31918800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr14:31905000-31920600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr14:31905200-31908400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:31905200-31908600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr14:31905200-31910400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr14:31905200-31910600	Weak transcription	Osteobl	bone
40	chr14:31905200-31917200	Weak transcription	Dnd41	blood
41	chr14:31905200-31925800	Weak transcription	NHDF-Ad	bronchial
42	chr14:31905400-31908600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:31905400-31917200	Weak transcription	Primary B cells from cord blood	blood
44	chr14:31906200-31908800	Weak transcription	A549	lung
45	chr14:31906200-31914800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr14:31907000-31925200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr14:31907200-31917000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr14:31907400-31908000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:31907400-31908400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
50	chr14:31907400-31908400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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