Variant report

Variant	rs59934148
Chromosome Location	chr17:46570516-46570517
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46569538..46570528-chr17:46662492..46663352,3	K562	blood:
2	chr17:46568685..46570931-chr17:46575612..46578799,3	MCF-7	breast:
3	chr17:46569342..46572136-chr17:46582152..46585021,2	MCF-7	breast:
4	chr17:46569189..46572269-chr17:46574424..46577287,4	MCF-7	breast:
5	chr17:46568782..46571366-chr17:46604713..46607657,2	MCF-7	breast:
6	chr17:46568691..46570864-chr17:46669281..46671058,2	K562	blood:
7	chr17:46570087..46572342-chr20:55574944..55576592,2	MCF-7	breast:
8	chr17:46532115..46533858-chr17:46568103..46570537,2	MCF-7	breast:
9	chr17:46570235..46572365-chr20:55509370..55511788,2	MCF-7	breast:
10	chr17:46569545..46570868-chr17:46662367..46663838,14	MCF-7	breast:
11	chr17:46564020..46565955-chr17:46568575..46570721,2	K562	blood:
12	chr17:46569196..46571892-chr17:46596978..46599661,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251772	Chromatin interaction
ENSG00000233101	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12948214	1.00[AMR][1000 genomes]
rs57199687	1.00[AMR][1000 genomes]
rs58067327	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58218522	1.00[AFR][1000 genomes]
rs59555055	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60681913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61185573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61476017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73985849	1.00[AFR][1000 genomes]
rs73985851	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv1002528	chr17:46566180-46575960	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46569200-46570600	Flanking Active TSS	K562	blood
2	chr17:46569400-46570600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
3	chr17:46569400-46570800	Bivalent Enhancer	Stomach Mucosa	stomach
4	chr17:46569400-46570800	Enhancers	Spleen	Spleen
5	chr17:46569600-46571000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr17:46569800-46570600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
7	chr17:46569800-46570600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr17:46569800-46570600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr17:46569800-46570600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr17:46569800-46570600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
11	chr17:46569800-46570600	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr17:46569800-46570600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr17:46569800-46570600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr17:46569800-46570600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
15	chr17:46569800-46570600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr17:46569800-46570600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr17:46569800-46570600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr17:46569800-46570600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr17:46569800-46570600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
20	chr17:46569800-46570600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr17:46569800-46570600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr17:46569800-46570600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr17:46569800-46570600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr17:46569800-46570600	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr17:46569800-46570600	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
26	chr17:46569800-46570600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr17:46569800-46570600	Flanking Active TSS	Colonic Mucosa	Colon
28	chr17:46569800-46570600	Enhancers	Esophagus	oesophagus
29	chr17:46569800-46570600	Flanking Active TSS	Fetal Kidney	kidney
30	chr17:46569800-46570600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
31	chr17:46569800-46570600	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr17:46569800-46570600	Active TSS	Hela-S3	cervix
33	chr17:46569800-46570600	Flanking Active TSS	HSMMtube	muscle
34	chr17:46569800-46570600	Flanking Active TSS	HUVEC	blood vessel
35	chr17:46569800-46570600	Flanking Active TSS	NH-A	brain
36	chr17:46569800-46570800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
37	chr17:46569800-46570800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
38	chr17:46569800-46570800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
39	chr17:46569800-46570800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr17:46569800-46570800	Enhancers	Placenta Amnion	Placenta Amnion
41	chr17:46569800-46570800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr17:46569800-46571200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr17:46569800-46571600	Enhancers	Lung	lung
44	chr17:46570000-46570600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr17:46570000-46570600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
46	chr17:46570000-46570600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
47	chr17:46570000-46570600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
48	chr17:46570000-46570600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
49	chr17:46570000-46570600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
50	chr17:46570000-46570600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle

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