Variant report

Variant	rs12000644
Chromosome Location	chr9:7316875-7316876
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10815593	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10976184	0.94[EUR][1000 genomes]
rs10976185	0.94[EUR][1000 genomes]
rs10976186	0.94[EUR][1000 genomes]
rs10976187	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10976188	0.93[EUR][1000 genomes]
rs10976194	0.95[EUR][1000 genomes]
rs10976195	0.95[EUR][1000 genomes]
rs10976202	0.96[EUR][1000 genomes]
rs10976205	0.94[EUR][1000 genomes]
rs10976206	0.96[EUR][1000 genomes]
rs10976209	0.96[EUR][1000 genomes]
rs10976212	1.00[EUR][1000 genomes]
rs10976213	1.00[EUR][1000 genomes]
rs10976214	1.00[EUR][1000 genomes]
rs10976228	1.00[EUR][1000 genomes]
rs10976229	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10976230	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10976231	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10976232	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10976239	0.91[EUR][1000 genomes]
rs10976245	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12001089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12006541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12376320	0.93[EUR][1000 genomes]
rs12377289	0.81[EUR][1000 genomes]
rs12378005	0.81[EUR][1000 genomes]
rs35049549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35633102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57285783	0.88[EUR][1000 genomes]
rs59167230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7029264	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7042614	0.92[AFR][1000 genomes]
rs73643018	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73643019	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9695574	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023906	chr9:6731786-7372132	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv613259	chr9:7032776-7541338	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1015874	chr9:7048807-7434890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv539971	chr9:7048807-7434890	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers 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 target site	3 gene(s)	inside rSNPs	diseases
5	esv2758178	chr9:7175387-7482982	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2759662	chr9:7175387-7482982	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1032465	chr9:7182123-7409755	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv539972	chr9:7182123-7409755	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1020908	chr9:7188471-7358893	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv539973	chr9:7188471-7358893	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv892194	chr9:7241270-7351360	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	esv2752310	chr9:7260390-7390841	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv2757309	chr9:7270158-7373868	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	esv34220	chr9:7272542-7368850	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv1023244	chr9:7273687-7370297	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv539974	chr9:7273687-7370297	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv818680	chr9:7288704-7371646	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	esv34566	chr9:7291742-7781370	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	nsv818681	chr9:7292836-7781365	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	nsv1019226	chr9:7299548-7415463	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
21	nsv539975	chr9:7299548-7415463	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
22	esv2761486	chr9:7306383-7320511	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases
23	nsv613260	chr9:7309750-7339425	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
24	nsv428534	chr9:7312939-7403231	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7314600-7317000	Enhancers	Fetal Muscle Leg	muscle
2	chr9:7314800-7317000	Enhancers	Fetal Stomach	stomach
3	chr9:7315000-7317400	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr9:7315000-7317600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr9:7315200-7317400	Enhancers	NHDF-Ad	bronchial
6	chr9:7315400-7317400	Enhancers	HSMMtube	muscle
7	chr9:7315800-7317000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr9:7315800-7317400	Enhancers	Fetal Lung	lung
9	chr9:7316000-7317000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr9:7316000-7317000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr9:7316000-7317200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr9:7316000-7317400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr9:7316000-7317400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr9:7316000-7321200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr9:7316200-7317000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr9:7316200-7317000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr9:7316200-7317600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:7316200-7320200	Weak transcription	Pancreas	Pancrea
19	chr9:7316400-7317200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr9:7316400-7319800	Weak transcription	HSMM	muscle
21	chr9:7316600-7317000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr9:7316600-7317200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr9:7316600-7317200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr9:7316600-7317200	Enhancers	NHLF	lung
25	chr9:7316600-7317400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr9:7316600-7317600	Enhancers	Placenta	Placenta
27	chr9:7316600-7320000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr9:7316800-7317600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr9:7316800-7319600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr9:7316800-7320000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr9:7316800-7320000	Weak transcription	Osteobl	bone
32	chr9:7316800-7320400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links