Variant report

Variant	rs11867934
Chromosome Location	chr17:16933404-16933405
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	chr17:16932063..16934977-chr17:16936868..16939174,3	K562	blood:
2	chr17:16931573..16934044-chr17:16934220..16938314,3	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12601193	1.00[JPT][hapmap]
rs12601453	1.00[JPT][hapmap]
rs12602196	1.00[JPT][hapmap]
rs12602675	0.92[JPT][hapmap]
rs16961396	1.00[JPT][hapmap]
rs2292528	1.00[JPT][hapmap]
rs2349646	0.94[AMR][1000 genomes]
rs3744126	1.00[JPT][hapmap]
rs3744135	1.00[JPT][hapmap]
rs3803762	1.00[JPT][hapmap]
rs4078534	1.00[JPT][hapmap]
rs41319048	1.00[JPT][hapmap]
rs4275914	0.82[EUR][1000 genomes]
rs4316813	0.92[JPT][hapmap]
rs4328504	0.93[ASN][1000 genomes]
rs4608391	0.82[ASN][1000 genomes]
rs4985740	0.82[CEU][hapmap];0.85[AMR][1000 genomes]
rs56332804	0.82[ASN][1000 genomes]
rs59100652	0.82[ASN][1000 genomes]
rs6502557	0.92[JPT][hapmap]
rs7207485	0.82[CEU][hapmap];0.85[AMR][1000 genomes]
rs7208929	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7217091	0.82[CEU][hapmap];0.89[AMR][1000 genomes]
rs8064771	0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs8068857	0.81[ASN][1000 genomes]
rs8069441	0.81[ASN][1000 genomes]
rs8073842	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs8079563	0.83[CEU][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9893911	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9908728	0.93[ASN][1000 genomes]
rs9909107	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058863	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv543227	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv907727	chr17:16892265-16938582	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv543231	chr17:16926227-16950644	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Diabetic retinopathy	21441570	GWAS catalog

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16928600-16933800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr17:16928800-16934000	Enhancers	Fetal Intestine Large	intestine
3	chr17:16930200-16936200	Enhancers	Fetal Muscle Leg	muscle
4	chr17:16930400-16934000	Enhancers	Fetal Intestine Small	intestine
5	chr17:16930400-16934000	Enhancers	Stomach Mucosa	stomach
6	chr17:16930400-16934400	Enhancers	Placenta	Placenta
7	chr17:16930400-16936600	Enhancers	Fetal Muscle Trunk	muscle
8	chr17:16930600-16933600	Enhancers	Placenta Amnion	Placenta Amnion
9	chr17:16930600-16934400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr17:16930600-16936000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr17:16930600-16936200	Enhancers	HMEC	breast
12	chr17:16930600-16937600	Enhancers	HSMMtube	muscle
13	chr17:16930800-16933600	Flanking Active TSS	HepG2	liver
14	chr17:16930800-16933800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr17:16930800-16935800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr17:16930800-16936000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr17:16931000-16934000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr17:16931000-16934200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr17:16931000-16936000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr17:16931200-16933800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr17:16931400-16933600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr17:16931400-16933600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr17:16931400-16933800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr17:16931400-16933800	Enhancers	Primary B cells from peripheral blood	blood
25	chr17:16931400-16934400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr17:16931400-16936000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr17:16931600-16933600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr17:16931600-16933600	Flanking Active TSS	Hela-S3	cervix
29	chr17:16931600-16933800	Enhancers	Primary B cells from cord blood	blood
30	chr17:16931600-16934200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr17:16931600-16936400	Enhancers	Fetal Lung	lung
32	chr17:16931800-16933600	Enhancers	K562	blood
33	chr17:16932000-16933600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr17:16932000-16934000	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr17:16932000-16934000	Weak transcription	Psoas Muscle	Psoas
36	chr17:16932000-16934200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr17:16932000-16934200	Weak transcription	Left Ventricle	heart
38	chr17:16932000-16934200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr17:16932000-16934400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr17:16932000-16935000	Weak transcription	Brain Angular Gyrus	brain
41	chr17:16932000-16935200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr17:16932200-16935200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr17:16932200-16935200	Weak transcription	NHLF	lung
44	chr17:16932200-16939800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr17:16932400-16933600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr17:16932400-16933600	Weak transcription	NH-A	brain
47	chr17:16932400-16933800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr17:16932400-16933800	Weak transcription	Fetal Heart	heart
49	chr17:16932400-16934400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr17:16932400-16934400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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