Variant report

Variant	rs73077884
Chromosome Location	chr12:30831409-30831410
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11608803	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11613738	0.93[AMR][1000 genomes]
rs11614046	0.82[AMR][1000 genomes]
rs17486840	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17560141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17687472	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17687791	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17687846	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17687964	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17688437	1.00[ASN][1000 genomes]
rs17688567	0.96[AMR][1000 genomes]
rs17739338	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2099029	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2882856	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4459394	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930937	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931357	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931359	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931363	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55957969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300410	1.00[ASN][1000 genomes]
rs73077865	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077877	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077893	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079959	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079962	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079965	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079966	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079970	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079971	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079992	1.00[ASN][1000 genomes]
rs73079995	1.00[ASN][1000 genomes]
rs73079996	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30767000-30844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:30780800-30847000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:30784800-30836600	Weak transcription	Fetal Heart	heart
4	chr12:30785000-30847800	Weak transcription	Gastric	stomach
5	chr12:30785200-30846400	Weak transcription	Spleen	Spleen
6	chr12:30785400-30847200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:30807800-30835200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:30808000-30837800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:30808600-30839200	Strong transcription	Liver	Liver
10	chr12:30808800-30835000	Strong transcription	Duodenum Mucosa	Duodenum
11	chr12:30808800-30838000	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:30810000-30838200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:30810800-30843200	Strong transcription	Dnd41	blood
14	chr12:30810800-30843800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:30811000-30844200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:30812200-30832200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:30812200-30837400	Strong transcription	Primary B cells from peripheral blood	blood
18	chr12:30812600-30844200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:30813000-30839400	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr12:30813200-30831600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:30813200-30844200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:30813600-30831600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr12:30813600-30844200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:30815400-30845800	Weak transcription	Fetal Brain Male	brain
25	chr12:30816200-30831600	Weak transcription	Hela-S3	cervix
26	chr12:30816200-30844000	Weak transcription	NHEK	skin
27	chr12:30816400-30844200	Weak transcription	NHLF	lung
28	chr12:30818000-30831800	Strong transcription	Primary B cells from cord blood	blood
29	chr12:30818600-30834800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr12:30820800-30836600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:30821000-30832400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:30821400-30834200	Weak transcription	Stomach Mucosa	stomach
33	chr12:30821600-30834800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:30821600-30837600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr12:30821600-30844200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr12:30821800-30835400	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr12:30821800-30847200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr12:30821800-30847400	Weak transcription	Lung	lung
39	chr12:30822000-30846600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr12:30822600-30843800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr12:30822600-30845600	Weak transcription	Right Ventricle	heart
42	chr12:30822600-30846400	Weak transcription	Esophagus	oesophagus
43	chr12:30822600-30847400	Weak transcription	Aorta	Aorta
44	chr12:30822800-30839200	Weak transcription	Psoas Muscle	Psoas
45	chr12:30822800-30844200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:30823200-30833000	Strong transcription	Adipose Nuclei	Adipose
47	chr12:30823400-30831600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr12:30824800-30832200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:30824800-30833600	Strong transcription	Primary T cells from cord blood	blood
50	chr12:30824800-30834800	Strong transcription	HUES48 Cell Line	embryonic stem cell

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