Variant report

Variant	rs12187005
Chromosome Location	chr5:96501490-96501491
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	chr5:96381723..96383480-chr5:96500362..96502420,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10515255	1.00[ASN][1000 genomes]
rs11135492	1.00[ASN][1000 genomes]
rs11950429	1.00[ASN][1000 genomes]
rs11953510	1.00[ASN][1000 genomes]
rs12055195	1.00[ASN][1000 genomes]
rs12109601	1.00[ASN][1000 genomes]
rs12188395	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13155794	1.00[ASN][1000 genomes]
rs13158924	1.00[ASN][1000 genomes]
rs13163725	1.00[ASN][1000 genomes]
rs13169233	1.00[ASN][1000 genomes]
rs13176081	1.00[ASN][1000 genomes]
rs13177167	1.00[ASN][1000 genomes]
rs1592764	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17629683	1.00[ASN][1000 genomes]
rs34529618	1.00[ASN][1000 genomes]
rs35263065	1.00[ASN][1000 genomes]
rs35648410	1.00[ASN][1000 genomes]
rs35715451	1.00[ASN][1000 genomes]
rs35807449	1.00[ASN][1000 genomes]
rs35887125	1.00[ASN][1000 genomes]
rs36062085	1.00[ASN][1000 genomes]
rs36091077	1.00[ASN][1000 genomes]
rs59936742	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62377109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6556954	1.00[ASN][1000 genomes]
rs6862780	1.00[ASN][1000 genomes]
rs71654361	1.00[ASN][1000 genomes]
rs71654362	1.00[ASN][1000 genomes]
rs71654363	1.00[ASN][1000 genomes]
rs72777604	1.00[ASN][1000 genomes]
rs72777610	1.00[ASN][1000 genomes]
rs7341048	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7703709	1.00[ASN][1000 genomes]
rs7718270	1.00[ASN][1000 genomes]
rs7721798	1.00[ASN][1000 genomes]
rs7723911	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv830412	chr5:96427305-96606619	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers 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 miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv830413	chr5:96450582-96509294	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1019790	chr5:96471680-96980633	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv537812	chr5:96471680-96980633	ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv882391	chr5:96496189-96533469	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv882392	chr5:96496189-96546238	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers 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 miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv882393	chr5:96496189-96567950	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96478400-96507800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:96492200-96510200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:96493600-96501600	Weak transcription	NHLF	lung
4	chr5:96494000-96502800	Weak transcription	Psoas Muscle	Psoas
5	chr5:96494200-96503000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr5:96494200-96506600	Weak transcription	Ovary	ovary
7	chr5:96494400-96501800	Strong transcription	Primary B cells from peripheral blood	blood
8	chr5:96494400-96502800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr5:96494400-96503200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:96494400-96505200	Weak transcription	Fetal Brain Male	brain
11	chr5:96494400-96510600	Weak transcription	Gastric	stomach
12	chr5:96494400-96515200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:96494400-96518000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:96494600-96502800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr5:96494600-96502800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr5:96494600-96505200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:96494600-96516600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:96494800-96502600	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr5:96494800-96514400	Weak transcription	Fetal Heart	heart
20	chr5:96494800-96515200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:96494800-96516400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr5:96494800-96516400	Strong transcription	Fetal Muscle Trunk	muscle
23	chr5:96494800-96516400	Strong transcription	Fetal Thymus	thymus
24	chr5:96494800-96516600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr5:96495000-96504000	Strong transcription	Primary T cells from cord blood	blood
26	chr5:96495000-96516000	Strong transcription	Dnd41	blood
27	chr5:96495000-96516200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr5:96495200-96502200	Strong transcription	GM12878-XiMat	blood
29	chr5:96495200-96510200	Weak transcription	Right Ventricle	heart
30	chr5:96495200-96515200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr5:96495200-96515400	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr5:96495200-96516000	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr5:96495200-96516800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:96495200-96518000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr5:96495400-96516600	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr5:96495600-96506600	Weak transcription	Lung	lung
37	chr5:96495600-96509400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:96495600-96515600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:96495600-96515800	Strong transcription	Osteobl	bone
40	chr5:96495600-96517800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr5:96495800-96501600	Weak transcription	Pancreas	Pancrea
42	chr5:96495800-96510200	Weak transcription	Thymus	Thymus
43	chr5:96495800-96517400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:96496000-96516800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:96496200-96501600	Weak transcription	Brain Angular Gyrus	brain
46	chr5:96496200-96507600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr5:96496200-96515200	Strong transcription	NH-A	brain
48	chr5:96496400-96501800	Weak transcription	Small Intestine	intestine
49	chr5:96496400-96514000	Weak transcription	Aorta	Aorta
50	chr5:96496600-96506800	Weak transcription	Fetal Brain Female	brain

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