Variant report

Variant	rs8013409
Chromosome Location	chr14:45608603-45608604
allele	C/T
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	STAT3	chr14:45608536-45608843	MCF10A-Er-Src	breast:	n/a	chr14:45608665-45608676
2	FOS	chr14:45608592-45608838	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr14:45608350-45608926	MCF10A-Er-Src	breast:	n/a	chr14:45608665-45608676
4	STAT3	chr14:45608536-45608841	MCF10A-Er-Src	breast:	n/a	chr14:45608665-45608676

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:45603146..45606664-chr14:45606745..45609948,6	MCF-7	breast:
2	chr14:45600775..45605834-chr14:45607431..45611467,5	K562	blood:

Variant related genes	Relation type
FKBP3	TF binding region
ENSG00000187790	Chromatin interaction
ENSG00000100442	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11848546	0.87[AMR][1000 genomes]
rs11850346	1.00[MEX][hapmap];0.87[AMR][1000 genomes]
rs1252952	1.00[MEX][hapmap]
rs1268577	1.00[MEX][hapmap]
rs1269008	1.00[MEX][hapmap]
rs73340620	1.00[AMR][1000 genomes]
rs73353670	1.00[AMR][1000 genomes]
rs941878	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv933364	chr14:45467086-45705844	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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
6	nsv901842	chr14:45506857-45713358	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv901843	chr14:45506857-45833490	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv832785	chr14:45520670-45710741	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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
9	esv1800510	chr14:45572528-45650813	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv530814	chr14:45604432-46198418	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv901844	chr14:45606287-46063731	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv1044445	chr14:45606779-45807171	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8013409	C8orf77	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45605800-45613800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:45605800-45613800	Weak transcription	Gastric	stomach
3	chr14:45605800-45613800	Weak transcription	Lung	lung
4	chr14:45605800-45618200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:45606000-45614000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr14:45606000-45618400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:45606000-45618600	Weak transcription	Left Ventricle	heart
8	chr14:45606000-45618800	Weak transcription	Placenta	Placenta
9	chr14:45606000-45622200	Weak transcription	Pancreas	Pancrea
10	chr14:45606000-45634600	Weak transcription	Esophagus	oesophagus
11	chr14:45606000-45679600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr14:45606200-45608800	Flanking Active TSS	Dnd41	blood
13	chr14:45606200-45622400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:45606400-45613800	Weak transcription	Spleen	Spleen
15	chr14:45606400-45615800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:45606400-45616000	Weak transcription	Right Ventricle	heart
17	chr14:45606400-45620600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr14:45606400-45641200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr14:45606600-45630600	Weak transcription	Fetal Muscle Leg	muscle
20	chr14:45606600-45634400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr14:45606600-45636400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr14:45607000-45613600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:45607000-45613800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr14:45607000-45613800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:45607000-45636400	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr14:45607000-45660000	Weak transcription	Ovary	ovary
27	chr14:45607200-45609000	Enhancers	Osteobl	bone
28	chr14:45607200-45613600	Weak transcription	Fetal Stomach	stomach
29	chr14:45607200-45613800	Weak transcription	Thymus	Thymus
30	chr14:45607200-45618000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr14:45607200-45619600	Weak transcription	Colon Smooth Muscle	Colon
32	chr14:45607200-45633200	Weak transcription	Fetal Thymus	thymus
33	chr14:45607200-45634800	Weak transcription	HSMM	muscle
34	chr14:45607200-45638800	Weak transcription	Fetal Brain Female	brain
35	chr14:45607200-45639000	Weak transcription	Liver	Liver
36	chr14:45607400-45608800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr14:45607400-45609800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr14:45607400-45609800	Enhancers	Hela-S3	cervix
39	chr14:45607400-45611200	Weak transcription	Primary B cells from peripheral blood	blood
40	chr14:45607400-45611600	Weak transcription	Primary B cells from cord blood	blood
41	chr14:45607400-45613800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr14:45607400-45614200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr14:45607400-45615800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr14:45607400-45616000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr14:45607400-45618400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr14:45607400-45618600	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr14:45607400-45618800	Weak transcription	Psoas Muscle	Psoas
48	chr14:45607400-45633200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr14:45607400-45633200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr14:45607400-45633600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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