Variant report

Variant	rs152785
Chromosome Location	chr5:14663047-14663048
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	POLR2A	chr5:14661991-14665007	K562	blood:	n/a	n/a
2	MAFK	chr5:14662857-14663199	HepG2	liver:	n/a	n/a
3	MAFK	chr5:14662890-14663051	IMR90	lung:	n/a	n/a
4	MAFK	chr5:14662910-14663186	HepG2	liver:	n/a	n/a
5	POLR2A	chr5:14662039-14666959	GM12891	blood:	n/a	n/a
6	MAFF	chr5:14662933-14663147	K562	blood:	n/a	n/a
7	MAFK	chr5:14662950-14663105	Hela-S3	cervix:	n/a	n/a
8	MAFF	chr5:14662904-14663182	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14497930..14500445-chr5:14662848..14665215,2	MCF-7	breast:
2	chr5:14657185..14658730-chr5:14661178..14663060,2	K562	blood:

Variant related genes	Relation type
FAM105B	TF binding region
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs152614	1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs152615	1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs152716	0.83[AMR][1000 genomes]
rs152718	1.00[AMR][1000 genomes]
rs152756	0.83[AMR][1000 genomes]
rs152757	1.00[AMR][1000 genomes]
rs152759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs152761	0.91[ASW][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs152763	1.00[AMR][1000 genomes]
rs2435062	1.00[YRI][hapmap]
rs2455456	1.00[YRI][hapmap];0.99[AFR][1000 genomes]
rs250434	0.83[AMR][1000 genomes]
rs250863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs250864	1.00[YRI][hapmap]
rs430035	0.81[AFR][1000 genomes]
rs458863	0.81[AFR][1000 genomes]
rs6896981	1.00[MEX][hapmap]
rs7711870	1.00[MEX][hapmap]

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	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv830211	chr5:14474675-14675776	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription 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	33 gene(s)	inside rSNPs	diseases
4	nsv1032951	chr5:14529579-14667342	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv597254	chr5:14661675-14664951	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14655200-14663800	Weak transcription	Pancreas	Pancrea
2	chr5:14655600-14663400	Weak transcription	Fetal Thymus	thymus
3	chr5:14659400-14663200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:14659400-14663400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:14659400-14663400	Weak transcription	HSMMtube	muscle
6	chr5:14659800-14663200	Weak transcription	Fetal Muscle Leg	muscle
7	chr5:14659800-14663400	Weak transcription	Fetal Lung	lung
8	chr5:14660000-14663200	Weak transcription	Esophagus	oesophagus
9	chr5:14660200-14663400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr5:14660600-14663200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr5:14660600-14663200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr5:14660600-14663200	Weak transcription	Colon Smooth Muscle	Colon
13	chr5:14660800-14663200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr5:14660800-14663400	Weak transcription	Brain Anterior Caudate	brain
15	chr5:14661000-14663200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:14661000-14663200	Weak transcription	Liver	Liver
17	chr5:14661000-14663400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:14661000-14663400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:14661000-14663400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr5:14661000-14663600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:14661000-14663600	Weak transcription	Adipose Nuclei	Adipose
22	chr5:14661000-14663600	Weak transcription	NH-A	brain
23	chr5:14661000-14663800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr5:14661200-14663200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:14661200-14663200	Weak transcription	Left Ventricle	heart
26	chr5:14661200-14663400	Weak transcription	Psoas Muscle	Psoas
27	chr5:14661200-14663800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr5:14661400-14663200	Weak transcription	Primary B cells from cord blood	blood
29	chr5:14661400-14663200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr5:14661400-14663200	Weak transcription	Osteobl	bone
31	chr5:14661400-14663400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:14661400-14663400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr5:14661400-14663400	Weak transcription	NHDF-Ad	bronchial
34	chr5:14661600-14663200	Weak transcription	HepG2	liver
35	chr5:14661600-14663400	Weak transcription	NHLF	lung
36	chr5:14661800-14663600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:14661800-14663800	Weak transcription	HUVEC	blood vessel
38	chr5:14662200-14663200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:14662200-14663200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr5:14662200-14663400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:14662200-14663400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:14662200-14663800	Enhancers	Placenta	Placenta
43	chr5:14662400-14663200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:14662600-14663400	Weak transcription	Primary T cells from cord blood	blood
45	chr5:14662600-14663400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr5:14662600-14663800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr5:14662800-14663400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:14662800-14663400	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr5:14662800-14663600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr5:14662800-14663800	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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