Variant report

Variant	rs12379672
Chromosome Location	chr9:21550959-21550960
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10965059	0.81[ASN][1000 genomes]
rs10965060	0.82[AFR][1000 genomes]
rs12377379	0.81[ASN][1000 genomes]
rs56122777	0.89[ASN][1000 genomes]
rs72703445	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv1029634	chr9:21542970-21765286	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 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	chr9:21529000-21551400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:21536400-21552200	Weak transcription	Gastric	stomach
4	chr9:21542200-21551800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr9:21543400-21551600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr9:21543600-21552200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:21545600-21555600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:21546400-21553600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr9:21547000-21553400	Transcr. at gene 5' and 3'	HMEC	breast
10	chr9:21547400-21551000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr9:21548200-21551000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr9:21548400-21551400	Flanking Active TSS	Hela-S3	cervix
13	chr9:21548400-21553800	Enhancers	Stomach Mucosa	stomach
14	chr9:21548400-21553800	Transcr. at gene 5' and 3'	NHEK	skin
15	chr9:21548400-21558200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr9:21548800-21552800	Enhancers	Fetal Intestine Small	intestine
17	chr9:21549400-21551800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr9:21549400-21553800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr9:21549600-21551800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr9:21549600-21552800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr9:21549800-21551200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:21549800-21552200	Enhancers	Duodenum Mucosa	Duodenum
23	chr9:21549800-21553000	Enhancers	NHDF-Ad	bronchial
24	chr9:21550000-21551000	Genic enhancers	Osteobl	bone
25	chr9:21550000-21552200	Enhancers	HSMM	muscle
26	chr9:21550000-21552400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr9:21550000-21552400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr9:21550000-21552800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr9:21550000-21553600	Transcr. at gene 5' and 3'	A549	lung
30	chr9:21550200-21551600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr9:21550200-21551800	Genic enhancers	NH-A	brain
32	chr9:21550200-21553000	Enhancers	HUVEC	blood vessel
33	chr9:21550400-21551200	Genic enhancers	Muscle Satellite Cultured Cells	--
34	chr9:21550400-21551400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr9:21550400-21551600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr9:21550600-21551000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:21550600-21551000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr9:21550600-21551000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr9:21550600-21554200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr9:21550800-21551000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr9:21550800-21551200	Active TSS	NHLF	lung
42	chr9:21550800-21551400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr9:21550800-21551800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr9:21550800-21553000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr9:21550800-21554200	Enhancers	Fetal Intestine Large	intestine

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