Variant report

Variant	rs17300449
Chromosome Location	chr12:11995541-11995542
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11990397..11992859-chr12:11995396..11997268,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16907359	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16907395	0.84[EUR][1000 genomes]
rs17819001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55877800	1.00[ASN][1000 genomes]
rs55981107	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs56116163	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56198451	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56338611	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56403725	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73052064	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73052069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73052074	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73052077	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73052089	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73053904	1.00[ASN][1000 genomes]
rs74060865	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	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11968800-12008200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:11975400-12009000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:11980400-12006000	Weak transcription	HSMMtube	muscle
4	chr12:11980800-12022600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:11983600-12004400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr12:11983600-12008200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:11983600-12008200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:11983800-12008200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:11985400-12004200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:11985800-12014800	Weak transcription	Fetal Brain Female	brain
11	chr12:11987000-11999400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:11987000-12013000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:11987200-12000000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:11987400-12004400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:11987600-12038000	Weak transcription	Hela-S3	cervix
16	chr12:11988200-12006200	Weak transcription	NHDF-Ad	bronchial
17	chr12:11988800-12003600	Strong transcription	Dnd41	blood
18	chr12:11989400-12002400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:11989400-12023000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:11989600-12008200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:11989800-12008200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:11991200-11996000	Enhancers	Stomach Mucosa	stomach
23	chr12:11991200-11997200	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr12:11991400-11995600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:11991400-11996800	Strong transcription	Thymus	Thymus
26	chr12:11991400-11997000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:11991400-11997200	Strong transcription	Primary T cells from cord blood	blood
28	chr12:11991600-11996400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:11991600-11996600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:11991800-11996200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:11992000-12004600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:11992200-11996000	Weak transcription	Placenta	Placenta
33	chr12:11992200-11996400	Strong transcription	Fetal Stomach	stomach
34	chr12:11992200-11997200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:11992200-11999800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:11992200-12000800	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr12:11992200-12001200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:11992200-12001200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:11992400-11995600	Weak transcription	Spleen	Spleen
40	chr12:11992400-11996000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:11992400-11996400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:11992400-12004400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr12:11992400-12004400	Weak transcription	Brain Hippocampus Middle	brain
44	chr12:11992400-12004400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr12:11992400-12004600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:11992400-12006400	Weak transcription	HMEC	breast
47	chr12:11992400-12008200	Weak transcription	Brain Angular Gyrus	brain
48	chr12:11992400-12008200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:11992600-12012600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr12:11992600-12014600	Weak transcription	NHEK	skin

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