Variant report

Variant	rs73084101
Chromosome Location	chr12:32544339-32544340
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32539085..32541375-chr12:32544139..32545933,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1055876	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11051969	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11051970	0.88[EUR][1000 genomes]
rs11051973	0.96[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11051975	0.96[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11051976	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051985	0.91[ASN][1000 genomes]
rs11051986	0.92[ASN][1000 genomes]
rs11051987	0.91[ASN][1000 genomes]
rs11051988	0.89[ASN][1000 genomes]
rs11051989	0.91[ASN][1000 genomes]
rs11051991	0.90[ASN][1000 genomes]
rs11051992	0.88[ASN][1000 genomes]
rs12227991	0.96[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12228004	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12229856	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16919774	0.80[ASN][1000 genomes]
rs1872829	0.88[EUR][1000 genomes]
rs2651369	0.85[EUR][1000 genomes]
rs4931013	0.91[ASN][1000 genomes]
rs4931623	0.91[ASN][1000 genomes]
rs56670459	0.89[ASN][1000 genomes]
rs6488050	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6488051	0.86[EUR][1000 genomes]
rs7132235	0.96[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7297381	0.90[ASN][1000 genomes]
rs73081911	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73084099	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73086036	0.90[ASN][1000 genomes]
rs73086040	0.90[ASN][1000 genomes]
rs7309706	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7313432	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv558171	chr12:32287259-32559693	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv469346	chr12:32531220-32587465	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv558188	chr12:32531220-32587465	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1054191	chr12:32534619-32733066	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv541455	chr12:32534619-32733066	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr12:32543600-32544400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:32543600-32544400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:32543600-32544400	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr12:32543600-32544400	Active TSS	Primary T cells from cord blood	blood
5	chr12:32543600-32544400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:32543600-32544400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:32543600-32544400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:32543600-32544400	Active TSS	Adipose Nuclei	Adipose
9	chr12:32543600-32544400	Active TSS	Duodenum Mucosa	Duodenum
10	chr12:32543600-32544400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr12:32543600-32544400	Active TSS	Ovary	ovary
12	chr12:32543600-32544400	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr12:32543600-32544400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
14	chr12:32543800-32544400	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr12:32543800-32544400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:32543800-32544400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:32543800-32544400	ZNF genes & repeats	Fetal Intestine Large	intestine
18	chr12:32543800-32544400	Active TSS	Fetal Intestine Small	intestine
19	chr12:32543800-32544400	Bivalent/Poised TSS	Fetal Stomach	stomach
20	chr12:32543800-32544400	Active TSS	A549	lung
21	chr12:32543800-32544400	Active TSS	HepG2	liver
22	chr12:32543800-32544400	Flanking Active TSS	HMEC	breast
23	chr12:32543800-32544600	Active TSS	Esophagus	oesophagus
24	chr12:32543800-32544800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr12:32544000-32544400	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr12:32544000-32544400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:32544000-32544400	Enhancers	Fetal Heart	heart
28	chr12:32544000-32544400	Active TSS	Placenta Amnion	Placenta Amnion
29	chr12:32544000-32544400	Active TSS	Stomach Mucosa	stomach
30	chr12:32544000-32544400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr12:32544000-32544600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
32	chr12:32544200-32544400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr12:32544200-32544400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr12:32544200-32544400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:32544200-32544400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr12:32544200-32544400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr12:32544200-32544400	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
38	chr12:32544200-32544400	Active TSS	HUVEC	blood vessel
39	chr12:32544200-32544400	Flanking Active TSS	NHEK	skin
40	chr12:32544200-32544600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
41	chr12:32544200-32544600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:32544200-32547800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:32544200-32550800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr12:32544200-32551600	Weak transcription	Gastric	stomach
45	chr12:32544200-32551800	Weak transcription	Muscle Satellite Cultured Cells	--

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