Variant report

Variant	rs8016080
Chromosome Location	chr14:45373245-45373246
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:45365378..45367803-chr14:45372610..45375638,3	K562	blood:
2	chr14:45372525..45374886-chr14:45378608..45380289,2	K562	blood:
3	chr14:45373236..45375504-chr5:142279017..142281758,2	MCF-7	breast:
4	chr14:45369411..45371670-chr14:45371963..45375550,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258633	Chromatin interaction
ENSG00000179476	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11846502	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[LWK][hapmap];0.84[MKK][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs17115690	0.81[ASW][hapmap];1.00[CEU][hapmap];0.83[YRI][hapmap]
rs17115692	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs55875939	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56803309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57261684	0.81[AFR][1000 genomes]
rs57489965	0.82[AFR][1000 genomes]
rs74046527	0.98[AFR][1000 genomes]
rs74046529	0.98[AFR][1000 genomes]
rs74046533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74046535	0.95[AFR][1000 genomes];1.00[AMR][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	nsv869289	chr14:44752382-45447415	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv901832	chr14:44847444-45415597	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh 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	44 gene(s)	inside rSNPs	diseases
3	nsv995092	chr14:44973489-45393462	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
7	nsv1053437	chr14:45232269-45424222	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8016080	C14orf28	cis	lymphoblastoid	seeQTL

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45367200-45376400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:45367400-45374600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:45367400-45375200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr14:45367400-45375200	Weak transcription	Esophagus	oesophagus
5	chr14:45367400-45381200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:45367400-45381200	Weak transcription	Lung	lung
7	chr14:45367600-45376400	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr14:45367600-45376400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr14:45367600-45376600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr14:45367600-45381400	Weak transcription	HSMM	muscle
11	chr14:45367800-45375000	Weak transcription	Fetal Intestine Small	intestine
12	chr14:45367800-45376400	Weak transcription	Fetal Intestine Large	intestine
13	chr14:45367800-45376800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr14:45367800-45378200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr14:45367800-45380000	Weak transcription	Fetal Kidney	kidney
16	chr14:45367800-45380800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:45368000-45373600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:45368000-45374000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:45368000-45376600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:45368000-45377000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr14:45368000-45377200	Weak transcription	Fetal Muscle Leg	muscle
22	chr14:45368000-45377800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr14:45368000-45377800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:45368000-45378200	Weak transcription	Primary B cells from cord blood	blood
25	chr14:45368000-45378200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr14:45368000-45380000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr14:45368200-45373600	Weak transcription	NH-A	brain
28	chr14:45368200-45373800	Weak transcription	Primary B cells from peripheral blood	blood
29	chr14:45368200-45375600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr14:45368200-45375600	Weak transcription	Fetal Brain Male	brain
31	chr14:45368200-45376600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:45368200-45377000	Weak transcription	HUVEC	blood vessel
33	chr14:45368200-45377200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr14:45368200-45377200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr14:45368200-45377600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr14:45368200-45378000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr14:45368200-45378400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr14:45368200-45380000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr14:45368200-45380200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:45368200-45381000	Weak transcription	Brain Anterior Caudate	brain
41	chr14:45368200-45381000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr14:45368200-45397400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr14:45368400-45374800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr14:45368400-45374800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr14:45368400-45375000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr14:45368400-45378800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr14:45368400-45379000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr14:45368400-45380000	Weak transcription	HSMMtube	muscle
49	chr14:45368400-45380200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr14:45368400-45380800	Weak transcription	Brain Substantia Nigra	brain

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