Variant report

Variant	rs11570492
Chromosome Location	chr17:45231848-45231849
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45230921..45233018-chr17:45247997..45250625,2	K562	blood:
2	chr17:45230648..45232405-chr17:45259040..45262576,3	K562	blood:
3	chr17:45229552..45231900-chr17:45241796..45244433,2	K562	blood:
4	chr17:45230921..45233379-chr17:45247997..45250446,2	K562	blood:
5	chr17:45229066..45231948-chr17:45400564..45402346,2	K562	blood:
6	chr1:25269703..25270473-chr17:45231357..45232201,2	MCF-7	breast:
7	chr17:45231539..45232062-chr2:133019343..133019865,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000004897	Chromatin interaction
ENSG00000263293	Chromatin interaction
ENSG00000178852	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11570486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11570584	0.87[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6504778	0.87[YRI][hapmap]
rs7217466	0.87[YRI][hapmap]
rs8067246	1.00[YRI][hapmap]
rs8078960	0.87[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv833467	chr17:45063935-45252624	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1796833	chr17:45212898-45244822	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv3365602	chr17:45214397-45234526	ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv960498	chr17:45218734-45237019	Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv8272	chr17:45219757-45232073	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv3402949	chr17:45221263-45232118	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv3334172	chr17:45221292-45232146	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv4896	chr17:45223249-45233036	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv3434975	chr17:45229160-45232144	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv3399918	chr17:45229197-45234362	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	esv3392491	chr17:45229245-45232088	Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	esv3355979	chr17:45229267-45232088	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	esv3394895	chr17:45229287-45232058	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	esv3325780	chr17:45229890-45232090	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	esv3323698	chr17:45229910-45232061	Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	esv3363785	chr17:45230512-45232088	Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	esv3432239	chr17:45231136-45232057	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45194800-45234200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr17:45214800-45234200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr17:45214800-45234200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr17:45216400-45232600	Strong transcription	Osteobl	bone
5	chr17:45219400-45233400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr17:45220000-45232800	Strong transcription	A549	lung
7	chr17:45221400-45232600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr17:45221400-45232800	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr17:45221400-45232800	Strong transcription	Duodenum Smooth Muscle	Duodenum
10	chr17:45221400-45233000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr17:45221400-45233000	Strong transcription	NH-A	brain
12	chr17:45221400-45233200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr17:45221400-45233200	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr17:45221400-45233400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr17:45221400-45233400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr17:45221400-45233400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr17:45221400-45233400	Strong transcription	Liver	Liver
18	chr17:45221400-45233400	Strong transcription	Fetal Thymus	thymus
19	chr17:45221400-45233600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr17:45221400-45233600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr17:45221400-45234200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr17:45221400-45234200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr17:45221400-45234200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr17:45221400-45234200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr17:45221400-45234200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr17:45221400-45234200	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr17:45221400-45234200	Weak transcription	Aorta	Aorta
28	chr17:45221400-45234200	Weak transcription	Colonic Mucosa	Colon
29	chr17:45221400-45234200	Weak transcription	Esophagus	oesophagus
30	chr17:45221400-45234200	Weak transcription	Fetal Brain Male	brain
31	chr17:45221400-45234200	Weak transcription	Fetal Heart	heart
32	chr17:45221400-45234200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr17:45221400-45234200	Weak transcription	Pancreas	Pancrea
34	chr17:45221400-45234200	Weak transcription	Right Ventricle	heart
35	chr17:45221400-45234200	Weak transcription	Small Intestine	intestine
36	chr17:45221400-45234200	Weak transcription	Stomach Mucosa	stomach
37	chr17:45221400-45234200	Strong transcription	Dnd41	blood
38	chr17:45221600-45233000	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr17:45221800-45233400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr17:45222200-45233600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr17:45222400-45233200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr17:45222400-45233200	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr17:45222400-45233200	Strong transcription	GM12878-XiMat	blood
44	chr17:45222400-45233400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr17:45222400-45233400	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr17:45222400-45233400	Strong transcription	Duodenum Mucosa	Duodenum
47	chr17:45222400-45233400	Strong transcription	Fetal Muscle Trunk	muscle
48	chr17:45222400-45233400	Strong transcription	Fetal Muscle Leg	muscle
49	chr17:45222400-45233400	Strong transcription	Stomach Smooth Muscle	stomach
50	chr17:45222400-45233800	Strong transcription	Primary T cells fromperipheralblood	blood

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