Variant report

Variant	rs73056196
Chromosome Location	chr12:12112433-12112434
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11614705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11614722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3020811	0.96[EUR][1000 genomes]
rs35627472	1.00[AFR][1000 genomes]
rs4406908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4433648	1.00[AFR][1000 genomes]
rs73056129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73056193	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73058013	1.00[AFR][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	nsv832331	chr12:11925095-12114451	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv898804	chr12:12058411-12202173	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12110800-12112600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:12111000-12112600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:12111000-12112600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr12:12111000-12112600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:12111000-12112600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:12111000-12112600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:12111000-12112600	Enhancers	Fetal Thymus	thymus
8	chr12:12111000-12112600	Enhancers	HMEC	breast
9	chr12:12111000-12112800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:12111000-12112800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:12111000-12112800	Enhancers	HUVEC	blood vessel
12	chr12:12111200-12112600	Enhancers	NHLF	lung
13	chr12:12111200-12112800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr12:12111200-12112800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:12111200-12112800	Enhancers	Dnd41	blood
16	chr12:12111400-12112600	Enhancers	Primary T cells fromperipheralblood	blood
17	chr12:12111400-12112600	Enhancers	A549	lung
18	chr12:12111400-12112800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:12111400-12112800	Enhancers	Stomach Mucosa	stomach
20	chr12:12111400-12115200	Enhancers	Fetal Brain Male	brain
21	chr12:12111600-12112600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr12:12111600-12114600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr12:12111800-12112600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr12:12111800-12112600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:12111800-12112600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr12:12111800-12112800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:12111800-12112800	Enhancers	NHDF-Ad	bronchial
28	chr12:12111800-12113800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:12112000-12112600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:12112000-12112600	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr12:12112000-12112600	Flanking Active TSS	HepG2	liver
32	chr12:12112000-12117000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr12:12112000-12121400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr12:12112000-12123000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr12:12112200-12112600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:12112200-12112600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:12112200-12112600	Enhancers	Gastric	stomach
38	chr12:12112200-12112600	Enhancers	NH-A	brain
39	chr12:12112200-12112800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:12112200-12112800	Enhancers	Pancreas	Pancrea
41	chr12:12112200-12112800	Enhancers	GM12878-XiMat	blood
42	chr12:12112200-12112800	Enhancers	Osteobl	bone
43	chr12:12112200-12114400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr12:12112200-12114400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr12:12112200-12114800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:12112200-12116400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr12:12112400-12112800	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr12:12112400-12112800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:12112400-12114200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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