Variant report

Variant	rs539915512
Chromosome Location	chr5:36690569-36690570
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:36666970..36669597-chr5:36688949..36691021,2	MCF-7	breast:
2	chr5:36602570..36603716-chr5:36690159..36691138,5	MCF-7	breast:
3	chr5:36679517..36682118-chr5:36687238..36691565,3	MCF-7	breast:
4	chr5:36414523..36415507-chr5:36690444..36691337,4	MCF-7	breast:
5	chr5:36670007..36672138-chr5:36689642..36692155,2	K562	blood:
6	chr5:36414601..36415558-chr5:36689948..36691438,6	MCF-7	breast:
7	chr5:36690529..36693380-chr5:36876216..36878576,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000079215	Chromatin interaction
ENSG00000164190	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	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv830263	chr5:36576504-36755093	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv969921	chr5:36645147-36696229	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv880571	chr5:36675699-36710205	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv528986	chr5:36689363-36692112	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36684200-36693200	Weak transcription	Spleen	Spleen
2	chr5:36689400-36691000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:36689600-36690600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:36689600-36690800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:36689800-36690600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:36690000-36690600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:36690000-36690600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:36690000-36690600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:36690000-36690600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:36690000-36690600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr5:36690000-36690600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr5:36690000-36690600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr5:36690000-36690600	Active TSS	Fetal Brain Female	brain
14	chr5:36690000-36690600	Active TSS	Fetal Stomach	stomach
15	chr5:36690000-36690600	Active TSS	Fetal Thymus	thymus
16	chr5:36690000-36690600	Flanking Active TSS	HSMM	muscle
17	chr5:36690000-36690600	Active TSS	NHLF	lung
18	chr5:36690000-36690800	Active TSS	H1 Cell Line	embryonic stem cell
19	chr5:36690000-36690800	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr5:36690000-36690800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:36690000-36690800	Active TSS	Primary T cells from cord blood	blood
22	chr5:36690000-36690800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr5:36690000-36690800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr5:36690000-36690800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr5:36690000-36690800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr5:36690000-36690800	Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr5:36690000-36690800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:36690000-36690800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:36690000-36690800	Active TSS	Brain Hippocampus Middle	brain
30	chr5:36690000-36690800	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr5:36690000-36690800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr5:36690000-36690800	Active TSS	Colon Smooth Muscle	Colon
33	chr5:36690000-36690800	Active TSS	Duodenum Mucosa	Duodenum
34	chr5:36690000-36690800	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr5:36690000-36690800	Active TSS	Fetal Intestine Large	intestine
36	chr5:36690000-36690800	Active TSS	Fetal Kidney	kidney
37	chr5:36690000-36690800	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr5:36690000-36690800	Active TSS	Right Atrium	heart
39	chr5:36690000-36690800	Active TSS	Right Ventricle	heart
40	chr5:36690000-36690800	Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr5:36690000-36690800	Active TSS	Thymus	Thymus
42	chr5:36690000-36690800	Active TSS	A549	lung
43	chr5:36690000-36690800	Flanking Active TSS	NH-A	brain
44	chr5:36690000-36691000	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr5:36690000-36691000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr5:36690000-36691000	Active TSS	H9 Cell Line	embryonic stem cell
47	chr5:36690000-36691000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:36690000-36691000	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr5:36690000-36691000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr5:36690000-36691000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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