Variant report

Variant	rs7215276
Chromosome Location	chr17:46749235-46749236
allele	G/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46748711..46749583-chr17:46956106..46956875,4	MCF-7	breast:
2	chr17:46713679..46714197-chr17:46749118..46749636,2	MCF-7	breast:
3	chr17:46748343..46750795-chr17:46752847..46755076,2	K562	blood:
4	chr17:46748726..46749588-chr17:46801756..46802493,2	K562	blood:
5	chr17:46679617..46680600-chr17:46748738..46749566,2	K562	blood:
6	chr17:46748703..46749676-chr17:46867980..46869288,6	K562	blood:
7	chr17:46748727..46749627-chr17:46867991..46868777,6	MCF-7	breast:
8	chr17:46749070..46750038-chr17:46868565..46869067,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000233101	Chromatin interaction
ENSG00000263602	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11651606	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12450229	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34766301	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34902690	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4793599	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4793966	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4793968	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8071699	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8074700	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv532113	chr17:46598247-47588570	Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	453 gene(s)	inside rSNPs	diseases
3	esv2758459	chr17:46602673-46836837	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised 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	364 gene(s)	inside rSNPs	diseases
4	esv2758694	chr17:46602673-46836837	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases
5	nsv833471	chr17:46617787-46783345	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers 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	356 gene(s)	inside rSNPs	diseases
6	esv13317	chr17:46732109-46783718	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1063497	chr17:46734754-46782993	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1060931	chr17:46735217-46774640	Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1060733	chr17:46735217-46775586	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1055273	chr17:46735217-46784388	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv1061776	chr17:46737526-46781977	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
12	esv2757661	chr17:46738883-46763403	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
13	esv2761961	chr17:46742149-46763403	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46748800-46749600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
2	chr17:46749000-46749400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
3	chr17:46749000-46749400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr17:46749000-46749400	Active TSS	Rectal Mucosa Donor 31	rectum
5	chr17:46749000-46749400	Active TSS	A549	lung
6	chr17:46749000-46749400	Active TSS	HSMMtube	muscle
7	chr17:46749000-46749600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
8	chr17:46749000-46749600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr17:46749000-46749600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr17:46749000-46749600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr17:46749000-46749600	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr17:46749000-46749800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr17:46749000-46749800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr17:46749200-46749400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr17:46749200-46749400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:46749200-46749400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr17:46749200-46749400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr17:46749200-46749400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
19	chr17:46749200-46749400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr17:46749200-46749400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr17:46749200-46749400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr17:46749200-46749400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
23	chr17:46749200-46749400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
24	chr17:46749200-46749400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr17:46749200-46749400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
26	chr17:46749200-46749400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
27	chr17:46749200-46749400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr17:46749200-46749400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr17:46749200-46749400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
30	chr17:46749200-46749400	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr17:46749200-46749400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr17:46749200-46749400	Enhancers	Aorta	Aorta
33	chr17:46749200-46749400	Active TSS	Brain Angular Gyrus	brain
34	chr17:46749200-46749400	Active TSS	Brain Cingulate Gyrus	brain
35	chr17:46749200-46749400	Flanking Active TSS	Brain Germinal Matrix	brain
36	chr17:46749200-46749400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr17:46749200-46749400	Active TSS	Brain Substantia Nigra	brain
38	chr17:46749200-46749400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
39	chr17:46749200-46749400	Active TSS	Fetal Intestine Large	intestine
40	chr17:46749200-46749400	Flanking Active TSS	Placenta	Placenta
41	chr17:46749200-46749400	Active TSS	Psoas Muscle	Psoas
42	chr17:46749200-46749400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
43	chr17:46749200-46749400	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr17:46749200-46749400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
45	chr17:46749200-46749400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr17:46749200-46749400	Active TSS	Stomach Smooth Muscle	stomach
47	chr17:46749200-46749400	Flanking Active TSS	HUVEC	blood vessel
48	chr17:46749200-46749400	Bivalent Enhancer	NH-A	brain
49	chr17:46749200-46749600	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
50	chr17:46749200-46749600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell

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