Variant report

Variant	rs12003172
Chromosome Location	chr9:18888318-18888319
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs2060364	1.00[AMR][1000 genomes]
rs56784233	1.00[AMR][1000 genomes]
rs57612660	1.00[AMR][1000 genomes]
rs59273023	1.00[AMR][1000 genomes]
rs59981039	1.00[AMR][1000 genomes]
rs62552760	1.00[AMR][1000 genomes]
rs67503152	1.00[AMR][1000 genomes]
rs7046895	1.00[AMR][1000 genomes]
rs728362	1.00[AMR][1000 genomes]
rs73427277	1.00[AMR][1000 genomes]
rs73431254	1.00[AMR][1000 genomes]
rs73431261	1.00[AMR][1000 genomes]
rs73431265	1.00[AMR][1000 genomes]
rs73431268	1.00[AMR][1000 genomes]
rs73431271	1.00[AMR][1000 genomes]
rs73431275	1.00[AMR][1000 genomes]
rs73431285	1.00[AMR][1000 genomes]
rs73433225	1.00[AMR][1000 genomes]
rs73433240	1.00[AMR][1000 genomes]
rs73433252	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1030931	chr9:18414752-18903530	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv892692	chr9:18519699-19045502	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv949111	chr9:18758205-18994588	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv892698	chr9:18830444-18905289	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1017820	chr9:18882219-19587377	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
9	nsv540078	chr9:18882219-19587377	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18878600-18895600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr9:18879800-18889800	Weak transcription	HSMMtube	muscle
3	chr9:18883800-18888400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr9:18885200-18889600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:18885800-18896400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr9:18886200-18889600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr9:18886400-18889800	Weak transcription	NHLF	lung
8	chr9:18887000-18890000	Strong transcription	NH-A	brain
9	chr9:18887200-18891000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr9:18887600-18888800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:18887600-18888800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr9:18887600-18888800	Genic enhancers	Osteobl	bone
13	chr9:18887800-18888600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr9:18887800-18888800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr9:18887800-18889200	Strong transcription	Fetal Stomach	stomach
16	chr9:18887800-18889800	Strong transcription	Aorta	Aorta
17	chr9:18887800-18889800	Strong transcription	HSMM	muscle
18	chr9:18888000-18888400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr9:18888000-18888400	Strong transcription	Fetal Muscle Leg	muscle
20	chr9:18888000-18888600	Enhancers	Colon Smooth Muscle	Colon
21	chr9:18888000-18888800	Genic enhancers	NHDF-Ad	bronchial
22	chr9:18888000-18889000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:18888000-18891000	Enhancers	Stomach Smooth Muscle	stomach
24	chr9:18888000-18892400	Weak transcription	Pancreas	Pancrea
25	chr9:18888200-18888400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr9:18888200-18888600	Enhancers	Rectal Smooth Muscle	rectum
27	chr9:18888200-18888600	Enhancers	Right Ventricle	heart
28	chr9:18888200-18889800	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr9:18888200-18891200	Enhancers	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links