Variant report

Variant	rs73251145
Chromosome Location	chr14:31092605-31092606
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:31090865-31092864	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr14:31092455-31092624	MCF10A-Er-Src	breast:	n/a	chr14:31092457-31092480
3	MYBL2	chr14:31090441-31092778	HepG2	liver:	n/a	n/a
4	MXI1	chr14:31090110-31092675	SK-N-SH	brain:	n/a	chr14:31090434-31090443
5	TEAD4	chr14:31090172-31092652	HepG2	liver:	n/a	n/a
6	POLR2A	chr14:31090221-31092664	GM12878	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:31090018..31093014-chr14:31887951..31890191,2	MCF-7	breast:
2	chr14:31092450..31095408-chr14:31105361..31109368,4	K562	blood:
3	chr14:31090029..31096005-chr14:31342159..31346650,8	K562	blood:
4	chr14:31027121..31031753-chr14:31090278..31094067,6	K562	blood:
5	chr14:31060440..31063351-chr14:31089762..31092777,3	MCF-7	breast:
6	chr14:31074562..31083390-chr14:31084587..31093565,15	K562	blood:
7	chr14:31078979..31080673-chr14:31091206..31092941,2	MCF-7	breast:
8	chr14:31025231..31028884-chr14:31089510..31093231,4	MCF-7	breast:
9	chr14:31092450..31095337-chr14:31106738..31109368,2	K562	blood:
10	chr14:31027330..31031100-chr14:31087785..31093139,9	MCF-7	breast:

No data

Variant related genes	Relation type
SCFD1	TF binding region
ENSG00000129493	Chromatin interaction
ENSG00000100473	Chromatin interaction
ENSG00000250365	Chromatin interaction
ENSG00000092108	Chromatin interaction
ENSG00000092140	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs12100621	1.00[AMR][1000 genomes]
rs57216699	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57549139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57618174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57677010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58653311	0.83[AFR][1000 genomes]
rs60350877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60353606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60362029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60727186	0.83[AFR][1000 genomes]
rs73251132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251151	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251156	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251167	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251168	1.00[AMR][1000 genomes]
rs73251169	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251177	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251179	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251181	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251184	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251188	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251199	0.83[AFR][1000 genomes]
rs73253017	0.83[AFR][1000 genomes]
rs73254546	0.83[AFR][1000 genomes]
rs73254548	0.83[AFR][1000 genomes]
rs73254552	0.83[AFR][1000 genomes]
rs73254553	0.83[AFR][1000 genomes]
rs73254554	0.83[AFR][1000 genomes]
rs73254555	0.83[AFR][1000 genomes]
rs73254556	0.83[AFR][1000 genomes]
rs73254560	0.83[AFR][1000 genomes]
rs73254565	0.83[AFR][1000 genomes]
rs73254568	0.83[AFR][1000 genomes]
rs73254580	0.83[AFR][1000 genomes]
rs73254583	0.83[AFR][1000 genomes]
rs73254586	0.83[AFR][1000 genomes]
rs73254588	0.83[AFR][1000 genomes]
rs73254589	0.83[AFR][1000 genomes]
rs73255979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73255992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73258111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73258118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73258119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264358	1.00[AMR][1000 genomes]
rs73264362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv564171	chr14:31068090-31149630	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31090200-31092800	Active TSS	Fetal Intestine Large	intestine
2	chr14:31090200-31092800	Active TSS	Psoas Muscle	Psoas
3	chr14:31090200-31093000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:31090200-31093200	Active TSS	Fetal Lung	lung
5	chr14:31090200-31093400	Active TSS	Fetal Brain Female	brain
6	chr14:31090200-31093400	Active TSS	Right Atrium	heart
7	chr14:31090200-31093600	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr14:31090400-31092800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr14:31090400-31092800	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr14:31090400-31092800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:31090400-31092800	Active TSS	Fetal Intestine Small	intestine
12	chr14:31090400-31092800	Active TSS	Fetal Stomach	stomach
13	chr14:31090400-31092800	Active TSS	Rectal Smooth Muscle	rectum
14	chr14:31090400-31093000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:31090400-31093000	Active TSS	A549	lung
16	chr14:31090400-31093200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:31090400-31093200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:31090400-31093200	Active TSS	Colon Smooth Muscle	Colon
19	chr14:31090400-31093200	Active TSS	Fetal Kidney	kidney
20	chr14:31090400-31093200	Active TSS	K562	blood
21	chr14:31090400-31093400	Active TSS	Aorta	Aorta
22	chr14:31090600-31092800	Active TSS	H1 Cell Line	embryonic stem cell
23	chr14:31090600-31093000	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr14:31090600-31093000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:31090600-31093600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:31090600-31093600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr14:31090800-31092800	Active TSS	Stomach Smooth Muscle	stomach
28	chr14:31090800-31093000	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr14:31090800-31093000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:31090800-31093200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:31090800-31093200	Active TSS	NHDF-Ad	bronchial
32	chr14:31091000-31093200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:31091000-31093400	Active TSS	NHLF	lung
34	chr14:31091000-31093600	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr14:31091000-31094000	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr14:31091200-31093000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:31091200-31093200	Active TSS	GM12878-XiMat	blood
38	chr14:31091400-31092800	Active TSS	HSMM	muscle
39	chr14:31091400-31092800	Active TSS	HSMMtube	muscle
40	chr14:31091400-31092800	Active TSS	Osteobl	bone
41	chr14:31091400-31093000	Active TSS	NHEK	skin
42	chr14:31091400-31093200	Active TSS	Muscle Satellite Cultured Cells	--
43	chr14:31091400-31093200	Active TSS	HMEC	breast
44	chr14:31091800-31093400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr14:31092000-31092800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr14:31092000-31092800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr14:31092000-31092800	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr14:31092000-31092800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr14:31092000-31093000	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr14:31092000-31093000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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