Variant report

Variant	rs201540231
Chromosome Location	chr5:14663202-14663203
allele	A/C
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	chr5:14663156-14663627	GM12878	blood:	n/a	n/a
2	SETDB1	chr5:14663078-14663639	U2OS	brain:	n/a	n/a
3	POLR2A	chr5:14661991-14665007	K562	blood:	n/a	n/a
4	POLR2A	chr5:14663129-14665683	GM12878	blood:	n/a	n/a
5	POLR2A	chr5:14663074-14665123	GM12878	blood:	n/a	n/a
6	POLR2A	chr5:14662039-14666959	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14497930..14500445-chr5:14662848..14665215,2	MCF-7	breast:

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

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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:75 , 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	chr5:14659400-14663400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:14659400-14663400	Weak transcription	HSMMtube	muscle
5	chr5:14659800-14663400	Weak transcription	Fetal Lung	lung
6	chr5:14660200-14663400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr5:14660800-14663400	Weak transcription	Brain Anterior Caudate	brain
8	chr5:14661000-14663400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:14661000-14663400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:14661000-14663400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr5:14661000-14663600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:14661000-14663600	Weak transcription	Adipose Nuclei	Adipose
13	chr5:14661000-14663600	Weak transcription	NH-A	brain
14	chr5:14661000-14663800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr5:14661200-14663400	Weak transcription	Psoas Muscle	Psoas
16	chr5:14661200-14663800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr5:14661400-14663400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:14661400-14663400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:14661400-14663400	Weak transcription	NHDF-Ad	bronchial
20	chr5:14661600-14663400	Weak transcription	NHLF	lung
21	chr5:14661800-14663600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:14661800-14663800	Weak transcription	HUVEC	blood vessel
23	chr5:14662200-14663400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:14662200-14663400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:14662200-14663800	Enhancers	Placenta	Placenta
26	chr5:14662600-14663400	Weak transcription	Primary T cells from cord blood	blood
27	chr5:14662600-14663400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr5:14662600-14663800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr5:14662800-14663400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:14662800-14663400	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr5:14662800-14663600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:14662800-14663800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr5:14662800-14663800	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr5:14662800-14663800	Enhancers	Fetal Heart	heart
35	chr5:14662800-14664200	Flanking Active TSS	NHEK	skin
36	chr5:14663000-14663400	Enhancers	HMEC	breast
37	chr5:14663000-14663600	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr5:14663000-14663600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr5:14663000-14663600	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr5:14663000-14663600	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr5:14663000-14663800	Enhancers	Fetal Brain Male	brain
42	chr5:14663200-14663400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:14663200-14663400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr5:14663200-14663400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:14663200-14663400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:14663200-14663400	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr5:14663200-14663400	Enhancers	Left Ventricle	heart
48	chr5:14663200-14663400	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr5:14663200-14663400	Enhancers	Stomach Smooth Muscle	stomach
50	chr5:14663200-14663400	Enhancers	Osteobl	bone

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