Variant report

Variant	rs2277696
Chromosome Location	chr17:46755710-46755711
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46755434..46756698-chr17:46954846..46957173,15	K562	blood:
2	chr17:46755465..46756849-chr17:46867926..46869081,19	MCF-7	breast:
3	chr17:46753552..46755878-chr17:46875165..46876959,2	K562	blood:
4	chr17:46755465..46756352-chr17:46801247..46802560,4	MCF-7	breast:
5	chr17:46755541..46756386-chr17:46881997..46882806,2	MCF-7	breast:
6	chr17:46754493..46757349-chr17:46765268..46767829,2	K562	blood:
7	chr17:46754810..46756534-chr17:46956012..46957174,7	MCF-7	breast:
8	chr17:46755482..46756508-chr17:46867920..46869021,7	K562	blood:
9	chr17:46755112..46756375-chr17:46868085..46869415,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000263602	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16942475	1.00[CEU][hapmap]
rs3744776	1.00[CEU][hapmap]
rs4494593	0.89[ASN][1000 genomes]
rs7406355	0.84[JPT][hapmap]
rs8068983	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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
14	nsv575484	chr17:46749791-46780829	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46755000-46755800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr17:46755000-46756000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr17:46755400-46755800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:46755400-46755800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr17:46755400-46755800	Enhancers	Spleen	Spleen
6	chr17:46755400-46756000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr17:46755400-46756000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
8	chr17:46755400-46756000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr17:46755400-46756000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr17:46755400-46756200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr17:46755400-46756200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
12	chr17:46755400-46756200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
13	chr17:46755400-46756200	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr17:46755600-46755800	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
15	chr17:46755600-46755800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr17:46755600-46755800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr17:46755600-46755800	Bivalent Enhancer	Primary B cells from cord blood	blood
18	chr17:46755600-46755800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
19	chr17:46755600-46755800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
20	chr17:46755600-46755800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
21	chr17:46755600-46755800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr17:46755600-46755800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr17:46755600-46755800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr17:46755600-46755800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr17:46755600-46755800	Bivalent Enhancer	Liver	Liver
26	chr17:46755600-46755800	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
27	chr17:46755600-46755800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
28	chr17:46755600-46755800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
29	chr17:46755600-46755800	Bivalent Enhancer	GM12878-XiMat	blood
30	chr17:46755600-46755800	Active TSS	K562	blood
31	chr17:46755600-46756000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
32	chr17:46755600-46756000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr17:46755600-46756000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
34	chr17:46755600-46756000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
35	chr17:46755600-46756000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr17:46755600-46756000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr17:46755600-46756000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr17:46755600-46756000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
39	chr17:46755600-46756000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
40	chr17:46755600-46756000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr17:46755600-46756000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
42	chr17:46755600-46756000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr17:46755600-46756000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
44	chr17:46755600-46756000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr17:46755600-46756000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr17:46755600-46756000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr17:46755600-46756000	Bivalent Enhancer	Adipose Nuclei	Adipose
48	chr17:46755600-46756000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
49	chr17:46755600-46756000	Bivalent/Poised TSS	Colonic Mucosa	Colon
50	chr17:46755600-46756000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum

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