Variant report

Variant	rs11869026
Chromosome Location	chr17:45684651-45684652
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45679584..45682875-chr17:45684553..45688203,6	K562	blood:
2	chr17:45681295..45682836-chr17:45684602..45686967,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141279	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11869487	1.00[CEU][hapmap]
rs11869926	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11871264	1.00[AFR][1000 genomes]
rs12051702	1.00[ASW][hapmap];1.00[CEU][hapmap];0.96[CHD][hapmap];0.90[GIH][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap]
rs12051709	1.00[CEU][hapmap]
rs16942912	0.86[CHB][hapmap];0.92[CHD][hapmap]
rs3809866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7221355	0.91[CHB][hapmap]

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	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	nsv516872	chr17:45419139-45702280	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv525267	chr17:45451894-45735706	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv469573	chr17:45511582-45698942	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv471701	chr17:45511583-45698942	Genic enhancers Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv1811231	chr17:45520374-45764956	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	esv1813964	chr17:45520374-45764956	Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	esv2758458	chr17:45520374-45764956	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	esv2758693	chr17:45520374-45764956	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv428344	chr17:45520374-45764956	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv908570	chr17:45571502-45684651	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv471403	chr17:45608444-45700642	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv482203	chr17:45608444-45700642	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11869026	NPEPPS	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45647800-45684800	Weak transcription	Gastric	stomach
2	chr17:45657200-45688200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr17:45659200-45698800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:45662600-45689800	Weak transcription	Psoas Muscle	Psoas
5	chr17:45663800-45702800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr17:45664800-45695000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr17:45665600-45686200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr17:45665600-45698200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr17:45666000-45694200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr17:45666200-45688200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr17:45666800-45687200	Strong transcription	Placenta	Placenta
12	chr17:45666800-45693600	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr17:45667200-45687400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr17:45667200-45698600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr17:45667400-45685600	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr17:45667400-45687400	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr17:45667400-45687800	Strong transcription	Liver	Liver
18	chr17:45667400-45718200	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr17:45668200-45688400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr17:45668200-45699000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr17:45669200-45687000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr17:45669200-45687200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr17:45670000-45703000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr17:45670200-45689000	Weak transcription	Stomach Mucosa	stomach
25	chr17:45670200-45698600	Weak transcription	Fetal Heart	heart
26	chr17:45670400-45686600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr17:45670400-45698200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr17:45670600-45687200	Strong transcription	Fetal Intestine Large	intestine
29	chr17:45672400-45688000	Strong transcription	Dnd41	blood
30	chr17:45672400-45704200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr17:45672600-45685400	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr17:45672600-45687600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr17:45672600-45688400	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr17:45672600-45691000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr17:45672600-45703000	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr17:45672800-45687800	Strong transcription	Fetal Thymus	thymus
37	chr17:45673000-45687200	Strong transcription	Duodenum Mucosa	Duodenum
38	chr17:45673200-45687200	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr17:45673400-45687400	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr17:45673400-45687800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr17:45673600-45685000	Weak transcription	Pancreas	Pancrea
42	chr17:45674200-45685800	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr17:45675000-45686000	Strong transcription	Thymus	Thymus
44	chr17:45675200-45685000	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr17:45675200-45685200	Strong transcription	GM12878-XiMat	blood
46	chr17:45675200-45685400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
47	chr17:45677200-45685800	Strong transcription	Placenta Amnion	Placenta Amnion
48	chr17:45677800-45685000	Weak transcription	Right Ventricle	heart
49	chr17:45679000-45696000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr17:45679200-45695800	Weak transcription	Small Intestine	intestine

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