Variant report

Variant	rs4794712
Chromosome Location	chr17:46549891-46549892
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46549355..46551508-chr17:46558983..46560720,2	K562	blood:
2	chr17:46541136..46543467-chr17:46547633..46550633,3	K562	blood:
3	chr17:46514248..46517781-chr17:46547190..46550869,3	K562	blood:
4	chr17:46549229..46552170-chr17:46578852..46580866,2	MCF-7	breast:
5	chr17:46547456..46550556-chr17:46552123..46556741,6	K562	blood:
6	chr17:46543575..46545195-chr17:46547041..46549908,2	K562	blood:

Variant related genes	Relation type
ENSG00000206805	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1912155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2175155	0.93[ASN][1000 genomes]
rs3826397	0.80[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs4053432	0.90[ASN][1000 genomes]
rs6504251	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46546000-46550000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr17:46547400-46551600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr17:46547600-46550600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr17:46547600-46550800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr17:46547800-46550600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr17:46547800-46550800	Enhancers	NHDF-Ad	bronchial
7	chr17:46547800-46551000	Enhancers	HMEC	breast
8	chr17:46548200-46550800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr17:46548200-46551000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr17:46548400-46550600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr17:46548400-46550600	Enhancers	Primary T cells fromperipheralblood	blood
12	chr17:46548400-46550800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr17:46548600-46550600	Enhancers	K562	blood
14	chr17:46548600-46550600	Enhancers	NHLF	lung
15	chr17:46548600-46550800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr17:46548600-46550800	Enhancers	NHEK	skin
17	chr17:46548800-46550800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr17:46548800-46550800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr17:46549000-46550400	Enhancers	GM12878-XiMat	blood
20	chr17:46549000-46550600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr17:46549000-46550600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr17:46549200-46550200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr17:46549200-46550600	Enhancers	H9 Cell Line	embryonic stem cell
24	chr17:46549200-46550600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr17:46549200-46550600	Bivalent Enhancer	Fetal Kidney	kidney
26	chr17:46549200-46550800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr17:46549200-46550800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr17:46549200-46550800	Enhancers	Placenta Amnion	Placenta Amnion
29	chr17:46549400-46550000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
30	chr17:46549400-46550200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr17:46549400-46550200	Flanking Active TSS	HSMM	muscle
32	chr17:46549400-46550400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
33	chr17:46549400-46550600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr17:46549400-46550600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
35	chr17:46549400-46550800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr17:46549400-46550800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr17:46549400-46550800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr17:46549400-46550800	Enhancers	NH-A	brain
39	chr17:46549400-46551000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr17:46549400-46551000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr17:46549600-46550400	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr17:46549600-46550800	Enhancers	A549	lung
43	chr17:46549600-46550800	Enhancers	Osteobl	bone
44	chr17:46549800-46550000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr17:46549800-46550200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr17:46549800-46550200	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr17:46549800-46550400	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr17:46549800-46550400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr17:46549800-46550600	Enhancers	HSMMtube	muscle
50	chr17:46549800-46550800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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