Variant report

Variant	rs12347244
Chromosome Location	chr9:16516360-16516361
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10116442	1.00[AMR][1000 genomes]
rs10118976	1.00[AMR][1000 genomes]
rs10120377	1.00[AMR][1000 genomes]
rs10122908	1.00[AMR][1000 genomes]
rs10123190	1.00[AMR][1000 genomes]
rs10124351	1.00[AMR][1000 genomes]
rs10124368	1.00[AFR][1000 genomes]
rs10962462	1.00[AFR][1000 genomes]
rs12337526	1.00[AMR][1000 genomes]
rs12340628	1.00[AMR][1000 genomes]
rs12343482	1.00[AMR][1000 genomes]
rs12346569	1.00[AMR][1000 genomes]
rs16934769	1.00[AMR][1000 genomes]
rs28401329	1.00[AMR][1000 genomes]
rs28478439	1.00[AMR][1000 genomes]
rs28606464	1.00[AMR][1000 genomes]
rs9886749	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530933	chr9:16251206-16830845	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv530934	chr9:16281246-16779432	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1032856	chr9:16465330-16773471	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv540073	chr9:16465330-16773471	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv892647	chr9:16476144-16521534	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv466265	chr9:16484731-16516941	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases
7	nsv613670	chr9:16484731-16516941	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16512400-16517400	Enhancers	Ovary	ovary
2	chr9:16513600-16517200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr9:16513600-16517200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr9:16513600-16517400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr9:16513800-16517200	Enhancers	H9 Cell Line	embryonic stem cell
6	chr9:16513800-16517200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:16513800-16517600	Enhancers	Fetal Stomach	stomach
8	chr9:16513800-16517800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr9:16514000-16516600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr9:16514000-16517200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr9:16514000-16517200	Enhancers	HSMM	muscle
12	chr9:16514000-16517400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr9:16514000-16517600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr9:16514000-16517800	Enhancers	Colon Smooth Muscle	Colon
15	chr9:16514000-16518000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:16514000-16518000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:16514000-16518000	Enhancers	NHLF	lung
18	chr9:16514000-16518000	Enhancers	Osteobl	bone
19	chr9:16514200-16517000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr9:16514200-16517200	Enhancers	NHDF-Ad	bronchial
21	chr9:16514400-16519400	Weak transcription	Psoas Muscle	Psoas
22	chr9:16514600-16516400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr9:16514800-16517800	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr9:16514800-16518000	Enhancers	A549	lung
25	chr9:16514800-16518400	Enhancers	HUVEC	blood vessel
26	chr9:16515000-16517200	Enhancers	Fetal Thymus	thymus
27	chr9:16515000-16517200	Enhancers	Placenta Amnion	Placenta Amnion
28	chr9:16515200-16516400	Enhancers	Right Atrium	heart
29	chr9:16515200-16517800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:16515200-16517800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr9:16515200-16517800	Enhancers	Adipose Nuclei	Adipose
32	chr9:16515400-16518000	Enhancers	Rectal Smooth Muscle	rectum
33	chr9:16515600-16516400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr9:16515600-16516800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr9:16515600-16516800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr9:16515600-16516800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr9:16515600-16517800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr9:16515600-16518200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr9:16515600-16518200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr9:16515600-16519600	Weak transcription	Fetal Brain Male	brain
41	chr9:16515600-16522000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr9:16515600-16532600	Weak transcription	Aorta	Aorta
43	chr9:16515800-16516600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr9:16516000-16516400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr9:16516000-16516400	Enhancers	Primary hematopoietic stem cells	blood
46	chr9:16516000-16516400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr9:16516000-16516400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr9:16516000-16516400	Flanking Active TSS	Fetal Lung	lung
49	chr9:16516000-16516600	Enhancers	Primary T cells from cord blood	blood
50	chr9:16516000-16517600	Enhancers	Fetal Kidney	kidney

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