Variant report

Variant	rs575809975
Chromosome Location	chr5:36689858-36689859
allele	C/T
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	chr5:36679517..36682118-chr5:36687238..36691565,3	MCF-7	breast:
3	chr5:36683268..36685538-chr5:36688361..36690027,2	MCF-7	breast:
4	chr5:36670007..36672138-chr5:36689642..36692155,2	K562	blood:

Variant related genes	Relation type
ENSG00000079215	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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36655400-36690000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:36658200-36690000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:36662000-36690000	Weak transcription	Psoas Muscle	Psoas
4	chr5:36666000-36690000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:36668200-36690000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr5:36668600-36690000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:36671400-36690200	Weak transcription	Pancreas	Pancrea
8	chr5:36674200-36690000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:36674400-36690000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:36677400-36690000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:36678000-36690200	Weak transcription	Lung	lung
12	chr5:36679000-36690200	Weak transcription	Gastric	stomach
13	chr5:36680000-36690000	Weak transcription	Right Ventricle	heart
14	chr5:36680000-36690200	Weak transcription	Hela-S3	cervix
15	chr5:36682200-36690200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:36684200-36693200	Weak transcription	Spleen	Spleen
17	chr5:36684600-36690000	Weak transcription	Fetal Brain Male	brain
18	chr5:36685000-36690000	Weak transcription	Adipose Nuclei	Adipose
19	chr5:36685000-36690000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr5:36685000-36690000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr5:36685200-36690200	Weak transcription	HSMMtube	muscle
22	chr5:36687200-36690000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:36687200-36690000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr5:36687400-36690000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:36688600-36690000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr5:36688600-36690000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr5:36688800-36690000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr5:36688800-36690200	Enhancers	Fetal Heart	heart
29	chr5:36689000-36690000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:36689000-36690000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr5:36689000-36690000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:36689000-36690000	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr5:36689200-36690000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:36689200-36690000	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr5:36689200-36690000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr5:36689200-36690000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:36689200-36690000	Enhancers	Fetal Muscle Trunk	muscle
38	chr5:36689200-36690000	Enhancers	Fetal Muscle Leg	muscle
39	chr5:36689200-36690000	Enhancers	HSMM	muscle
40	chr5:36689200-36690000	Enhancers	NHEK	skin
41	chr5:36689200-36690200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr5:36689200-36690200	Enhancers	Primary B cells from peripheral blood	blood
43	chr5:36689200-36690200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr5:36689400-36690000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr5:36689400-36690000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
46	chr5:36689400-36690000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:36689400-36690000	Enhancers	Primary B cells from cord blood	blood
48	chr5:36689400-36690000	Enhancers	Primary hematopoietic stem cells	blood
49	chr5:36689400-36690000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:36689400-36690000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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