Variant report

Variant	rs2241867
Chromosome Location	chr14:105453413-105453414
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr14:105451818-105453561	IMR90	lung:	n/a	chr14:105452596-105452603 chr14:105452595-105452604 chr14:105453280-105453290 chr14:105452595-105452605 chr14:105452310-105452319 chr14:105452591-105452606 chr14:105452594-105452605
2	MAX	chr14:105453122-105453485	K562	blood:	n/a	chr14:105453280-105453290
3	POLR2A	chr14:105451779-105453430	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr14:105452843-105453602	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr14:105453145-105453463	MCF-7	breast:	n/a	n/a
6	POLR2A	chr14:105451642-105453419	Hela-S3	cervix:	n/a	n/a
7	MXI1	chr14:105451692-105453551	SK-N-SH	brain:	n/a	chr14:105453416-105453425 chr14:105452074-105452089
8	HCFC1	chr14:105451865-105453797	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:105448840..105458160-chr14:105477229..105492100,32	MCF-7	breast:
2	chr14:105452399..105454972-chr14:105485871..105488403,3	K562	blood:
3	chr14:105443512..105446839-chr14:105449245..105453481,5	K562	blood:
4	chr14:105451467..105455477-chr14:105455742..105459304,4	K562	blood:
5	chr14:105452399..105454814-chr14:105486903..105489011,2	K562	blood:
6	chr14:105433937..105458439-chr14:105476653..105492775,70	MCF-7	breast:

Variant related genes	Relation type
C14orf79	TF binding region
ENSG00000185567	Chromatin interaction
ENSG00000140104	Chromatin interaction
ENSG00000170779	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10131315	0.94[ASN][1000 genomes]
rs10137513	0.86[ASN][1000 genomes]
rs10138381	0.87[ASN][1000 genomes]
rs10150682	0.81[EUR][1000 genomes]
rs10150848	0.86[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs10873553	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs11160829	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs11160830	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs11628851	0.93[ASN][1000 genomes]
rs11845745	0.94[ASN][1000 genomes]
rs12896131	0.92[ASN][1000 genomes]
rs2247140	0.97[ASN][1000 genomes]
rs2582567	0.95[CHB][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs2582568	0.95[ASN][1000 genomes]
rs2582569	0.97[ASN][1000 genomes]
rs3204172	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs3204173	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs3923887	0.94[ASN][1000 genomes]
rs4073652	1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs4075086	0.92[ASN][1000 genomes]
rs4267250	0.90[ASN][1000 genomes]
rs4309336	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs4344668	0.94[ASN][1000 genomes]
rs4354858	0.93[ASN][1000 genomes]
rs4429223	0.94[ASN][1000 genomes]
rs6420941	0.95[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs6576065	0.97[ASN][1000 genomes]
rs6576066	0.97[ASN][1000 genomes]
rs6576068	0.94[ASN][1000 genomes]
rs7141972	0.95[ASN][1000 genomes]
rs7147450	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs7150384	0.92[ASN][1000 genomes]
rs7155932	0.94[ASN][1000 genomes]
rs7157046	0.97[ASN][1000 genomes]
rs8010080	0.92[ASN][1000 genomes]
rs8011377	1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs8016434	0.85[ASN][1000 genomes]
rs8017794	0.87[ASN][1000 genomes]
rs8022294	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs894039	1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs9652406	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053591	chr14:105024558-105475931	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv542224	chr14:105024558-105475931	Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
4	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
5	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
6	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
7	nsv902419	chr14:105381763-105494262	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	nsv1049253	chr14:105384959-105471855	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv542228	chr14:105390569-105459912	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv456457	chr14:105404384-105555396	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
11	nsv566141	chr14:105404384-105555396	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
12	nsv1036224	chr14:105404755-105470333	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
13	nsv902420	chr14:105410183-105494262	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
14	nsv902421	chr14:105410183-105574843	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
15	nsv1438	chr14:105412728-105457581	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
16	nsv902422	chr14:105420215-105803170	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
17	nsv1052190	chr14:105423761-105722653	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
18	nsv902423	chr14:105430890-105803170	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
19	nsv1042303	chr14:105435649-105633544	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
20	nsv456458	chr14:105435649-105690092	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
21	nsv566150	chr14:105435649-105690092	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
22	nsv902424	chr14:105436222-105803170	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2241867	C14orf79	cis	multi-tissue	Pritchard

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105452400-105453600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:105452400-105453800	Enhancers	Fetal Brain Male	brain
3	chr14:105452600-105453600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:105452600-105458200	Weak transcription	Aorta	Aorta
5	chr14:105452800-105453600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr14:105452800-105453800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:105452800-105453800	Enhancers	Fetal Muscle Trunk	muscle
8	chr14:105452800-105453800	Enhancers	Fetal Muscle Leg	muscle
9	chr14:105452800-105453800	Enhancers	Placenta	Placenta
10	chr14:105452800-105453800	Enhancers	Lung	lung
11	chr14:105452800-105453800	Enhancers	Ovary	ovary
12	chr14:105452800-105454000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr14:105452800-105472800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:105452800-105473600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr14:105452800-105473600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:105453000-105453600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:105453000-105453600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:105453000-105453600	Enhancers	Brain Hippocampus Middle	brain
19	chr14:105453000-105453800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:105453000-105453800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:105453000-105453800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
22	chr14:105453000-105453800	Enhancers	Brain Anterior Caudate	brain
23	chr14:105453000-105453800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr14:105453000-105453800	Enhancers	Fetal Brain Female	brain
25	chr14:105453000-105453800	Enhancers	Stomach Mucosa	stomach
26	chr14:105453000-105453800	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr14:105453000-105454000	Enhancers	Spleen	Spleen
28	chr14:105453000-105454000	Enhancers	HUVEC	blood vessel
29	chr14:105453000-105457800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr14:105453000-105458800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:105453200-105453600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr14:105453200-105453600	Enhancers	Right Ventricle	heart
33	chr14:105453200-105453600	Enhancers	HMEC	breast
34	chr14:105453200-105453800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:105453200-105453800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:105453200-105453800	Enhancers	Brain Germinal Matrix	brain
37	chr14:105453200-105453800	Enhancers	Colon Smooth Muscle	Colon
38	chr14:105453200-105453800	Enhancers	Pancreas	Pancrea
39	chr14:105453200-105454600	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr14:105453200-105458000	Weak transcription	HSMMtube	muscle
41	chr14:105453200-105459400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr14:105453200-105465400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr14:105453200-105465600	Weak transcription	NH-A	brain
44	chr14:105453200-105473200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr14:105453200-105475600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr14:105453200-105485400	Weak transcription	Fetal Kidney	kidney
47	chr14:105453400-105453600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr14:105453400-105453600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:105453400-105453600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:105453400-105453600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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