Variant report

Variant	rs192616896
Chromosome Location	chr5:43043200-43043201
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43005892..43011349-chr5:43037590..43043804,20	K562	blood:
2	chr5:43016691..43021968-chr5:43036071..43044426,17	MCF-7	breast:
3	chr5:43014739..43026335-chr5:43034830..43045515,33	MCF-7	breast:
4	chr5:43007547..43009866-chr5:43041551..43043821,3	MCF-7	breast:
5	chr5:43034726..43053192-chr5:43061725..43074206,66	K562	blood:
6	chr5:43036901..43050217-chr5:43060442..43069391,53	MCF-7	breast:
7	chr5:43040123..43044169-chr5:43120216..43122879,6	K562	blood:
8	chr5:43037720..43044659-chr5:43062293..43069444,31	K562	blood:
9	chr5:43041491..43043698-chr5:43120008..43122438,3	MCF-7	breast:
10	chr5:43038662..43048059-chr5:43059399..43070773,40	MCF-7	breast:
11	chr5:43005322..43013124-chr5:43037748..43043287,15	K562	blood:
12	chr5:43040708..43045055-chr5:43119670..43122847,6	K562	blood:
13	chr5:43041481..43043742-chr5:43120386..43122867,3	MCF-7	breast:
14	chr5:43007330..43009530-chr5:43039640..43043303,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000177738	Chromatin interaction
ENSG00000271788	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000251131	Chromatin interaction
ENSG00000272144	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv968169	chr5:42956713-43043472	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	116 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43036800-43043800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:43037400-43045000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:43037800-43043400	Active TSS	Right Atrium	heart
4	chr5:43038000-43043600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:43038800-43043600	Active TSS	A549	lung
6	chr5:43039000-43043600	Active TSS	Psoas Muscle	Psoas
7	chr5:43039000-43043800	Active TSS	Thymus	Thymus
8	chr5:43039000-43043800	Active TSS	NHDF-Ad	bronchial
9	chr5:43039400-43043600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr5:43039400-43043600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
11	chr5:43039400-43043800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:43039400-43044800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:43039600-43043400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr5:43039600-43043400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
15	chr5:43039600-43043600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:43039600-43043600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
17	chr5:43039600-43043800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
18	chr5:43039800-43043600	Active TSS	Brain Substantia Nigra	brain
19	chr5:43039800-43043800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr5:43039800-43044400	Active TSS	NHLF	lung
21	chr5:43039800-43044800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:43040000-43043400	Active TSS	Esophagus	oesophagus
23	chr5:43040000-43043600	Active TSS	Aorta	Aorta
24	chr5:43040000-43045000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:43040200-43043200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr5:43040200-43043200	Active TSS	Small Intestine	intestine
27	chr5:43040200-43043400	Active TSS	Lung	lung
28	chr5:43040200-43043600	Active TSS	Brain Hippocampus Middle	brain
29	chr5:43040400-43043800	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr5:43040400-43045000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:43040600-43043600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:43040800-43043600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr5:43040800-43043600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
34	chr5:43040800-43043600	Active TSS	Ovary	ovary
35	chr5:43040800-43043800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:43041000-43043600	Active TSS	Brain Cingulate Gyrus	brain
37	chr5:43041000-43043800	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr5:43041400-43043600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
39	chr5:43041400-43043800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
40	chr5:43041600-43043400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:43041600-43043600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr5:43041600-43043600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
43	chr5:43041600-43043600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
44	chr5:43041600-43043600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:43041600-43043600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
46	chr5:43041600-43043600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
47	chr5:43041600-43043600	Flanking Active TSS	HUVEC	blood vessel
48	chr5:43041600-43043800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr5:43041800-43043200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr5:43041800-43043400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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