Variant report

Variant	rs1553748
Chromosome Location	chr17:46561681-46561682
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46554419..46558240-chr17:46559048..46562749,5	K562	blood:
2	chr17:46560654..46562174-chr17:46577197..46578743,2	K562	blood:
3	chr17:46554419..46557845-chr17:46559048..46562749,6	K562	blood:

Variant related genes	Relation type
ENSG00000206805	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12951643	0.82[ASN][1000 genomes]
rs1553755	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36087615	0.82[ASN][1000 genomes]
rs4793564	0.81[JPT][hapmap]
rs56238990	0.82[ASN][1000 genomes]
rs56315233	0.82[ASN][1000 genomes]
rs6504280	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs8074239	0.92[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs8078201	0.91[AFR][1000 genomes]
rs8078849	0.81[ASN][1000 genomes]
rs953732	0.82[ASN][1000 genomes]
rs9747796	0.93[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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46554200-46564600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr17:46555000-46566000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr17:46559200-46566200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr17:46559400-46562200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr17:46559400-46562400	Enhancers	GM12878-XiMat	blood
6	chr17:46559800-46562000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr17:46560000-46562200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr17:46560200-46561800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr17:46560200-46562200	Enhancers	Primary hematopoietic stem cells	blood
10	chr17:46560200-46562400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr17:46560400-46561800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr17:46560400-46561800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr17:46560400-46561800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr17:46560400-46561800	Enhancers	Fetal Stomach	stomach
15	chr17:46560400-46562000	Bivalent Enhancer	Fetal Lung	lung
16	chr17:46560400-46562000	Enhancers	Placenta Amnion	Placenta Amnion
17	chr17:46560400-46562200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr17:46560600-46562000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr17:46560600-46562600	Enhancers	K562	blood
20	chr17:46560800-46561800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr17:46560800-46561800	Enhancers	Colon Smooth Muscle	Colon
22	chr17:46560800-46562000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr17:46560800-46562000	Enhancers	Primary B cells from peripheral blood	blood
24	chr17:46560800-46564600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr17:46560800-46566000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr17:46560800-46566400	Enhancers	HMEC	breast
27	chr17:46561000-46561800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr17:46561000-46561800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr17:46561000-46561800	Enhancers	Fetal Kidney	kidney
30	chr17:46561000-46562000	Enhancers	Primary B cells from cord blood	blood
31	chr17:46561000-46562000	Enhancers	Rectal Smooth Muscle	rectum
32	chr17:46561000-46562000	Flanking Active TSS	HSMM	muscle
33	chr17:46561000-46562000	Flanking Active TSS	NHEK	skin
34	chr17:46561000-46562200	Flanking Active TSS	HSMMtube	muscle
35	chr17:46561000-46562200	Flanking Active TSS	NH-A	brain
36	chr17:46561000-46562400	Flanking Active TSS	NHLF	lung
37	chr17:46561200-46561800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr17:46561200-46562000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr17:46561200-46562000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr17:46561200-46562000	Flanking Active TSS	Osteobl	bone
41	chr17:46561200-46562400	Flanking Active TSS	NHDF-Ad	bronchial
42	chr17:46561200-46564000	Weak transcription	Adipose Nuclei	Adipose
43	chr17:46561200-46566000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr17:46561200-46566200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr17:46561200-46566200	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr17:46561400-46561800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr17:46561400-46562000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr17:46561400-46562000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr17:46561400-46563200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr17:46561400-46566600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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