Variant report

Variant	rs8013221
Chromosome Location	chr14:69923702-69923703
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69821722..69824231-chr14:69923203..69925103,2	MCF-7	breast:
2	chr14:69865252..69866906-chr14:69922886..69924769,3	MCF-7	breast:
3	chr14:69819465..69821642-chr14:69923369..69926196,2	MCF-7	breast:
4	chr14:69815842..69819268-chr14:69923313..69926949,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000029364	Chromatin interaction
ENSG00000100632	Chromatin interaction
ENSG00000100626	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1275672	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17836204	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2232057	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2232058	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296723	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6573887	0.81[AMR][1000 genomes]
rs7140358	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145903	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7152886	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156420	0.90[TSI][hapmap];0.81[AMR][1000 genomes]
rs7158020	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160157	0.81[AMR][1000 genomes]
rs7276	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003906	0.85[TSI][hapmap];0.81[AMR][1000 genomes]
rs8004020	0.81[AMR][1000 genomes]
rs8007612	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013985	0.90[TSI][hapmap];0.81[AMR][1000 genomes]
rs8014284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8015357	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016546	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016589	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8021143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3396933	chr14:69906914-70001258	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1048882	chr14:69920881-69976694	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1052107	chr14:69922552-69969297	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1039230	chr14:69922552-69972002	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1039192	chr14:69922552-69976694	Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8013221	C14orf181	cis	cerebellum	SCAN
rs8013221	COX16	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69892200-69931400	Weak transcription	K562	blood
2	chr14:69893200-69926800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr14:69893600-69925000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:69894000-69924400	Weak transcription	Brain Angular Gyrus	brain
5	chr14:69902400-69927000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:69903600-69937800	Weak transcription	Psoas Muscle	Psoas
7	chr14:69906800-69924400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:69906800-69924400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:69909000-69933200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr14:69910400-69927200	Weak transcription	NHEK	skin
11	chr14:69911600-69925600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:69915800-69932600	Weak transcription	Fetal Heart	heart
13	chr14:69916200-69927000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:69916400-69926400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr14:69918400-69929200	Strong transcription	Primary T cells from cord blood	blood
16	chr14:69919200-69929600	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr14:69919600-69926200	Strong transcription	Primary B cells from cord blood	blood
18	chr14:69919600-69929000	Strong transcription	Primary B cells from peripheral blood	blood
19	chr14:69919800-69924000	Strong transcription	GM12878-XiMat	blood
20	chr14:69919800-69925000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr14:69919800-69925800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:69919800-69926000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:69919800-69926000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr14:69919800-69926000	Strong transcription	Ovary	ovary
25	chr14:69919800-69926000	Strong transcription	Stomach Smooth Muscle	stomach
26	chr14:69919800-69926400	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr14:69919800-69926600	Strong transcription	HSMM	muscle
28	chr14:69919800-69928600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:69919800-69929000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:69919800-69929000	Strong transcription	Dnd41	blood
31	chr14:69919800-69929400	Strong transcription	Fetal Intestine Large	intestine
32	chr14:69919800-69929600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr14:69919800-69929800	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr14:69920000-69926000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:69920000-69926200	Strong transcription	Liver	Liver
36	chr14:69920000-69926200	Strong transcription	Osteobl	bone
37	chr14:69920000-69926400	Strong transcription	Primary hematopoietic stem cells	blood
38	chr14:69920000-69928600	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr14:69920000-69928800	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr14:69920000-69929000	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr14:69920000-69929000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr14:69920000-69929000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr14:69920000-69929400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr14:69920000-69929400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:69920000-69930400	Weak transcription	Right Ventricle	heart
46	chr14:69920200-69923800	Strong transcription	Placenta Amnion	Placenta Amnion
47	chr14:69920200-69928000	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr14:69920200-69929200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr14:69920400-69923800	Strong transcription	HepG2	liver
50	chr14:69920400-69926000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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