Variant report

Variant	rs11714286
Chromosome Location	chr3:50185508-50185509
allele	A/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:50164743..50166299-chr3:50183403..50185616,2	MCF-7	breast:
2	chr3:50180386..50182514-chr3:50184277..50186852,2	MCF-7	breast:
3	chr3:50177059..50182253-chr3:50182281..50187344,5	K562	blood:
4	chr3:50154064..50156374-chr3:50184030..50185702,2	MCF-7	breast:
5	chr3:50177059..50182253-chr3:50182281..50187344,7	K562	blood:
6	chr3:50172563..50177055-chr3:50182695..50185570,4	MCF-7	breast:
7	chr3:50160998..50164207-chr3:50182321..50186383,5	MCF-7	breast:
8	chr3:50179614..50181665-chr3:50184380..50186772,2	MCF-7	breast:
9	chr3:50157123..50160509-chr3:50182287..50185771,3	MCF-7	breast:
10	chr3:50171724..50175454-chr3:50183857..50186951,3	K562	blood:

No data

Extended variants
information (count: 34 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11711407	0.84[EUR][1000 genomes]
rs11714799	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11717349	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13085567	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2073726	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2526383	0.99[ASN][1000 genomes]
rs34877766	0.84[EUR][1000 genomes]
rs3755831	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3774745	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3774749	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3774750	0.86[ASN][1000 genomes]
rs3774751	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs67627084	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9831967	0.81[EUR][1000 genomes]
rs9858059	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834690	chr3:50101835-50267584	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv515986	chr3:50104307-50267584	Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv432418	chr3:50114496-50224196	Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1001775	chr3:50129479-50311666	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv876768	chr3:50144951-50267584	Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
7	nsv1013949	chr3:50151712-50339163	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv590250	chr3:50153356-50332697	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	nsv876769	chr3:50155468-50408398	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
10	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
11	esv1793751	chr3:50157364-50476363	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
12	esv1828162	chr3:50157364-50506151	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
13	nsv590251	chr3:50158774-50337422	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
14	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
15	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
16	nsv523560	chr3:50172397-50339163	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
17	nsv460529	chr3:50178011-50324672	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
18	nsv460530	chr3:50178011-50324672	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
19	nsv590252	chr3:50178011-50324672	Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs11714286	RBM6	cis	Artery Tibial	GTEx
rs11714286	RBM6	cis	Artery Aorta	GTEx
rs11714286	RBM6	cis	Esophagus Mucosa	GTEx
rs11714286	RBM6	cis	Thyroid	GTEx
rs11714286	RBM6	cis	lung	GTEx
rs11714286	RBM6	cis	Heart Left Ventricle	GTEx
rs11714286	RBM6	Cis_1M	lymphoblastoid	RTeQTL
rs11714286	RBM6	cis	Whole Blood	GTEx
rs11714286	RBM6	cis	Nerve Tibial	GTEx
rs11714286	RBM6	cis	Esophagus Muscularis	GTEx

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50177200-50191800	Weak transcription	Right Ventricle	heart
2	chr3:50177600-50191000	Weak transcription	Lung	lung
3	chr3:50177800-50187200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:50178600-50187400	Weak transcription	Spleen	Spleen
5	chr3:50182400-50185800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:50182600-50186200	Enhancers	Fetal Thymus	thymus
7	chr3:50182800-50185600	Enhancers	NHEK	skin
8	chr3:50182800-50186400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr3:50183000-50187400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:50183600-50192000	Enhancers	Esophagus	oesophagus
11	chr3:50183800-50185600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:50183800-50185600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:50183800-50189800	Enhancers	Fetal Stomach	stomach
14	chr3:50184000-50187400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr3:50184000-50187600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:50184000-50187600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr3:50184200-50187400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:50184400-50187600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr3:50184600-50187400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr3:50184800-50185600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:50184800-50185800	Enhancers	Fetal Muscle Trunk	muscle
22	chr3:50184800-50186000	Enhancers	Fetal Muscle Leg	muscle
23	chr3:50185000-50185600	Bivalent Enhancer	Fetal Intestine Small	intestine
24	chr3:50185000-50186200	Enhancers	Fetal Kidney	kidney
25	chr3:50185000-50187200	Enhancers	HepG2	liver
26	chr3:50185000-50189600	Enhancers	Fetal Lung	lung
27	chr3:50185200-50185600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:50185200-50185600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr3:50185200-50185800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr3:50185200-50185800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr3:50185200-50185800	Enhancers	Placenta	Placenta
32	chr3:50185200-50185800	Enhancers	NHDF-Ad	bronchial
33	chr3:50185200-50186200	Enhancers	Fetal Brain Male	brain
34	chr3:50185200-50187600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:50185200-50188200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:50185400-50185800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr3:50185400-50186200	Enhancers	Fetal Brain Female	brain

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