Variant report

Variant	rs4580778
Chromosome Location	chr5:17227211-17227212
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:17223199..17226233-chr5:17226952..17230155,3	MCF-7	breast:
2	chr5:17219335..17222848-chr5:17226972..17230280,3	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1010647	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1384265	1.00[ASN][1000 genomes]
rs1482342	1.00[ASN][1000 genomes]
rs2731793	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv830218	chr5:17093162-17290045	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1029959	chr5:17133214-17455995	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17219800-17231800	Weak transcription	Fetal Kidney	kidney
2	chr5:17219800-17233600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:17220400-17229400	Weak transcription	Brain Anterior Caudate	brain
4	chr5:17221400-17228200	Weak transcription	HUVEC	blood vessel
5	chr5:17222600-17228800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:17222600-17228800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr5:17222800-17227800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:17222800-17239000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:17223200-17235800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr5:17223400-17229400	Weak transcription	Fetal Thymus	thymus
11	chr5:17223600-17230400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:17224000-17227800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:17224200-17228600	Weak transcription	Ovary	ovary
14	chr5:17224400-17227800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:17224400-17227800	Weak transcription	HMEC	breast
16	chr5:17224400-17233400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:17225000-17228800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr5:17225200-17227800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:17225200-17231800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr5:17225400-17227800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr5:17225400-17227800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr5:17225400-17227800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:17225400-17228000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:17225400-17228200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:17225400-17228800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr5:17225400-17231000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:17225600-17227800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:17225600-17227800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:17225600-17227800	Weak transcription	NHDF-Ad	bronchial
30	chr5:17225600-17228200	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr5:17225600-17228600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr5:17225600-17228600	Weak transcription	HSMMtube	muscle
33	chr5:17225600-17232600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:17225600-17241600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr5:17225800-17227600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:17225800-17227600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr5:17225800-17227800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:17225800-17227800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:17225800-17227800	Weak transcription	NHLF	lung
40	chr5:17225800-17227800	Weak transcription	Osteobl	bone
41	chr5:17225800-17228000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr5:17225800-17228200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr5:17225800-17228400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr5:17225800-17229000	Weak transcription	Fetal Muscle Leg	muscle
45	chr5:17225800-17229200	Weak transcription	Spleen	Spleen
46	chr5:17225800-17229400	Weak transcription	Placenta	Placenta
47	chr5:17225800-17229400	Weak transcription	Fetal Stomach	stomach
48	chr5:17225800-17232400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr5:17226000-17227800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:17226000-17227800	Weak transcription	Primary B cells from cord blood	blood

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