Variant report

Variant	rs34837068
Chromosome Location	chr12:42863262-42863263
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:42856522..42859149-chr12:42861270..42865700,4	K562	blood:
2	chr12:42858889..42861856-chr12:42862365..42864970,2	MCF-7	breast:
3	chr12:42763652..42765251-chr12:42861680..42863828,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17091078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17091110	0.84[ASN][1000 genomes]
rs17091127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17091132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs58990065	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42831800-42876400	Weak transcription	Psoas Muscle	Psoas
2	chr12:42836000-42875800	Weak transcription	Stomach Mucosa	stomach
3	chr12:42837000-42868800	Weak transcription	Esophagus	oesophagus
4	chr12:42849400-42864800	Strong transcription	Fetal Stomach	stomach
5	chr12:42850000-42866400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:42850200-42865000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:42850200-42865000	Strong transcription	Fetal Muscle Trunk	muscle
8	chr12:42850200-42865800	Strong transcription	Osteobl	bone
9	chr12:42853400-42869200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:42854000-42863600	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:42854000-42865800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:42854000-42868600	Weak transcription	Right Ventricle	heart
13	chr12:42854200-42865200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:42854200-42867400	Weak transcription	NHLF	lung
15	chr12:42854400-42864800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr12:42854400-42865200	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr12:42854600-42864800	Strong transcription	H9 Cell Line	embryonic stem cell
18	chr12:42855200-42864000	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:42855400-42864000	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:42855400-42865200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:42856200-42865800	Strong transcription	HMEC	breast
22	chr12:42856400-42863400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:42856400-42864200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:42856800-42864000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:42857800-42863400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:42857800-42863800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:42859200-42864800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr12:42859200-42865200	Weak transcription	Fetal Intestine Small	intestine
29	chr12:42860200-42866800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:42860200-42868800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr12:42860200-42870400	Weak transcription	Pancreas	Pancrea
32	chr12:42860200-42876200	Weak transcription	Gastric	stomach
33	chr12:42860800-42863800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:42860800-42864600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr12:42861400-42863400	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr12:42861400-42864400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:42861400-42876000	Weak transcription	Lung	lung
38	chr12:42861600-42863400	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr12:42861600-42864000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:42861600-42864400	Enhancers	Fetal Brain Male	brain
41	chr12:42861600-42866200	Weak transcription	Ovary	ovary
42	chr12:42861800-42864400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:42862000-42863600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:42862000-42863600	Strong transcription	Fetal Intestine Large	intestine
45	chr12:42862000-42864000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:42862000-42864000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr12:42862000-42864000	Flanking Active TSS	GM12878-XiMat	blood
48	chr12:42862000-42865800	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr12:42862200-42863400	Enhancers	Brain Angular Gyrus	brain
50	chr12:42862200-42863400	Enhancers	Brain Inferior Temporal Lobe	brain

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