Variant report

Variant	rs10848076
Chromosome Location	chr12:123416348-123416349
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123415535..123420026-chr12:123422545..123426280,4	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11060993	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1568918	0.80[ASN][1000 genomes]
rs2270788	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3782289	0.82[ASN][1000 genomes]
rs4759360	0.81[ASN][1000 genomes]
rs7298563	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230017	0.82[EUR][1000 genomes];0.90[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	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv832532	chr12:123395927-123573137	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
9	nsv976725	chr12:123412328-123429898	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123401400-123417200	Weak transcription	Osteobl	bone
2	chr12:123401400-123425200	Weak transcription	Esophagus	oesophagus
3	chr12:123401400-123426000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:123402600-123416400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:123402600-123429200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:123402800-123416400	Weak transcription	Brain Substantia Nigra	brain
7	chr12:123402800-123426600	Weak transcription	NHLF	lung
8	chr12:123402800-123429200	Weak transcription	Gastric	stomach
9	chr12:123402800-123430800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:123403000-123416600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:123403000-123426400	Weak transcription	Left Ventricle	heart
12	chr12:123403000-123428800	Weak transcription	Lung	lung
13	chr12:123403000-123444200	Weak transcription	Aorta	Aorta
14	chr12:123403400-123427000	Weak transcription	A549	lung
15	chr12:123405200-123416800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:123405200-123424800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:123405200-123428600	Weak transcription	NHEK	skin
18	chr12:123406800-123417000	Weak transcription	Fetal Lung	lung
19	chr12:123406800-123419800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:123406800-123426600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr12:123409400-123427600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr12:123411800-123428800	Weak transcription	Fetal Brain Male	brain
23	chr12:123412400-123427200	Weak transcription	Adipose Nuclei	Adipose
24	chr12:123412800-123416600	Weak transcription	GM12878-XiMat	blood
25	chr12:123412800-123427400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:123412800-123431800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr12:123412800-123449200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:123413000-123418000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr12:123413200-123417000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:123413200-123418800	Weak transcription	Primary B cells from cord blood	blood
31	chr12:123413200-123424400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:123413400-123416600	Weak transcription	Primary B cells from peripheral blood	blood
33	chr12:123413400-123419800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:123413400-123425400	Strong transcription	Fetal Brain Female	brain
35	chr12:123413400-123427200	Weak transcription	Small Intestine	intestine
36	chr12:123413400-123427400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr12:123413400-123427600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr12:123413400-123427600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr12:123413400-123449600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr12:123413600-123416600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr12:123413600-123421400	Weak transcription	Placenta	Placenta
42	chr12:123413600-123422000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr12:123413600-123431400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:123413600-123450000	Weak transcription	Primary T cells from cord blood	blood
45	chr12:123414000-123417800	Strong transcription	Brain Cingulate Gyrus	brain
46	chr12:123414000-123417800	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr12:123414000-123417800	Strong transcription	Fetal Intestine Small	intestine
48	chr12:123414000-123432400	Weak transcription	Fetal Kidney	kidney
49	chr12:123414200-123417400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:123414200-123417400	Strong transcription	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links