Variant report

Variant	rs12336551
Chromosome Location	chr9:18828220-18828221
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10122919	0.81[AFR][1000 genomes]
rs12342095	0.89[AFR][1000 genomes]
rs12342159	0.98[AFR][1000 genomes]
rs12349413	1.00[AMR][1000 genomes]
rs28809508	0.91[AFR][1000 genomes]
rs59692890	0.96[AFR][1000 genomes]
rs73421193	0.86[AFR][1000 genomes]
rs73421197	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1029449	chr9:18414752-18829127	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv540077	chr9:18414752-18829127	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18815400-18829200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr9:18818000-18845200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:18818200-18828800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr9:18823000-18834400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr9:18825400-18829800	Weak transcription	Aorta	Aorta
6	chr9:18825400-18829800	Weak transcription	Psoas Muscle	Psoas
7	chr9:18825400-18833000	Strong transcription	HSMM	muscle
8	chr9:18825400-18833400	Weak transcription	Right Ventricle	heart
9	chr9:18825400-18845200	Weak transcription	HSMMtube	muscle
10	chr9:18825400-18857200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:18825600-18830200	Weak transcription	NHLF	lung
12	chr9:18825600-18833600	Strong transcription	NHDF-Ad	bronchial
13	chr9:18825600-18857400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:18825800-18828600	Strong transcription	Osteobl	bone
15	chr9:18825800-18829800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:18825800-18829800	Weak transcription	Fetal Muscle Leg	muscle
17	chr9:18826000-18832600	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr9:18826200-18833600	Weak transcription	HUVEC	blood vessel
19	chr9:18826600-18830400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr9:18826800-18830600	Weak transcription	Gastric	stomach
21	chr9:18826800-18834600	Weak transcription	Fetal Heart	heart
22	chr9:18827200-18861600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr9:18827600-18828400	Enhancers	Brain Substantia Nigra	brain
24	chr9:18827600-18829800	Weak transcription	Fetal Stomach	stomach
25	chr9:18827800-18829000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr9:18827800-18829600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr9:18827800-18829600	Weak transcription	NH-A	brain
28	chr9:18828000-18829000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr9:18828200-18828400	Enhancers	Primary T cells from cord blood	blood
30	chr9:18828200-18828600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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