Variant report

Variant	rs181644702
Chromosome Location	chr5:43044044-43044045
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:43043643-43044191	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43016691..43021968-chr5:43036071..43044426,17	MCF-7	breast:
2	chr5:43014739..43026335-chr5:43034830..43045515,33	MCF-7	breast:
3	chr5:43034726..43053192-chr5:43061725..43074206,66	K562	blood:
4	chr5:43036901..43050217-chr5:43060442..43069391,53	MCF-7	breast:
5	chr5:43040123..43044169-chr5:43120216..43122879,6	K562	blood:
6	chr5:43037720..43044659-chr5:43062293..43069444,31	K562	blood:
7	chr5:43038662..43048059-chr5:43059399..43070773,40	MCF-7	breast:
8	chr5:43040708..43045055-chr5:43119670..43122847,6	K562	blood:

No data

Variant related genes	Relation type
ANXA2R	TF binding region
ENSG00000272144	Chromatin interaction
ENSG00000177738	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000251131	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
7	nsv1029288	chr5:42928085-43047323	Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	120 gene(s)	inside rSNPs	diseases
8	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
9	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
10	esv3357318	chr5:43042995-43045168	Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43037400-43045000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr5:43039400-43044800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:43039800-43044400	Active TSS	NHLF	lung
4	chr5:43039800-43044800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:43040000-43045000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:43040400-43045000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:43041800-43044400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:43042000-43044200	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr5:43042200-43044400	Active TSS	Brain Anterior Caudate	brain
10	chr5:43043200-43044400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:43043200-43044400	Active TSS	Osteobl	bone
12	chr5:43043400-43044400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:43043600-43044200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:43043600-43044200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr5:43043600-43044200	Active TSS	Muscle Satellite Cultured Cells	--
16	chr5:43043600-43044200	Enhancers	Colonic Mucosa	Colon
17	chr5:43043600-43044200	Weak transcription	Esophagus	oesophagus
18	chr5:43043600-43044200	Weak transcription	Lung	lung
19	chr5:43043600-43044200	Weak transcription	Spleen	Spleen
20	chr5:43043600-43044200	Active TSS	Dnd41	blood
21	chr5:43043600-43044200	Enhancers	NH-A	brain
22	chr5:43043600-43044400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr5:43043600-43044400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr5:43043600-43044400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr5:43043600-43044400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr5:43043600-43044400	Active TSS	Adipose Nuclei	Adipose
27	chr5:43043600-43044400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr5:43043600-43044400	Weak transcription	Brain Hippocampus Middle	brain
29	chr5:43043600-43044400	Weak transcription	Brain Substantia Nigra	brain
30	chr5:43043600-43044400	Weak transcription	Pancreas	Pancrea
31	chr5:43043600-43044400	Weak transcription	Psoas Muscle	Psoas
32	chr5:43043600-43044400	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr5:43043600-43044400	Active TSS	HSMM	muscle
34	chr5:43043600-43044400	Weak transcription	K562	blood
35	chr5:43043600-43044600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:43043600-43050600	Weak transcription	GM12878-XiMat	blood
37	chr5:43043600-43052600	Weak transcription	A549	lung
38	chr5:43043600-43058200	Weak transcription	Gastric	stomach
39	chr5:43043600-43058200	Weak transcription	HSMMtube	muscle
40	chr5:43043600-43061600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:43043600-43063800	Weak transcription	Aorta	Aorta
42	chr5:43043600-43064000	Weak transcription	NHEK	skin
43	chr5:43043800-43044200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr5:43043800-43044200	Weak transcription	Primary T cells from cord blood	blood
45	chr5:43043800-43044200	Enhancers	Primary T cells fromperipheralblood	blood
46	chr5:43043800-43044200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr5:43043800-43044200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr5:43043800-43044200	Weak transcription	Liver	Liver
49	chr5:43043800-43044200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr5:43043800-43044400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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