Variant report

Variant	rs12378310
Chromosome Location	chr9:21536553-21536554
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10965038	1.00[AFR][1000 genomes]
rs10965072	1.00[AFR][1000 genomes]
rs12378477	1.00[AFR][1000 genomes]
rs72703426	0.81[AMR][1000 genomes]
rs72703473	1.00[AFR][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	nsv892740	chr9:21471499-21551513	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA	110 gene(s)	inside rSNPs	diseases
2	nsv1031432	chr9:21472601-21608774	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats 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	122 gene(s)	inside rSNPs	diseases
3	nsv540085	chr9:21472601-21608774	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	122 gene(s)	inside rSNPs	diseases
4	nsv892741	chr9:21517302-21551513	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21507200-21551400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:21508000-21542000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:21516800-21542600	Weak transcription	Stomach Mucosa	stomach
4	chr9:21527800-21536600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr9:21528800-21542000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:21529000-21551400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:21531600-21542600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr9:21532200-21542800	Weak transcription	NHLF	lung
9	chr9:21532400-21542000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr9:21533200-21542600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:21534000-21542000	Weak transcription	HUVEC	blood vessel
12	chr9:21534000-21543000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr9:21534000-21544200	Weak transcription	NHDF-Ad	bronchial
14	chr9:21534400-21548200	Weak transcription	HSMM	muscle
15	chr9:21534800-21536800	Genic enhancers	NHEK	skin
16	chr9:21535000-21536600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr9:21535000-21536800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr9:21535200-21536600	Genic enhancers	HMEC	breast
19	chr9:21535200-21536800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr9:21535200-21537400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr9:21535400-21536600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr9:21535600-21542000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:21535800-21536600	Genic enhancers	A549	lung
24	chr9:21536000-21536600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:21536000-21543000	Weak transcription	NH-A	brain
26	chr9:21536200-21542200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr9:21536400-21542000	Weak transcription	Fetal Intestine Small	intestine
28	chr9:21536400-21542000	Weak transcription	Osteobl	bone
29	chr9:21536400-21544400	Weak transcription	Hela-S3	cervix
30	chr9:21536400-21546800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr9:21536400-21552200	Weak transcription	Gastric	stomach

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