Variant report

Variant	rs34492942
Chromosome Location	chr12:105031923-105031924
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105030575..105033014-chr12:105046316..105048917,2	K562	blood:
2	chr12:105031559..105034893-chr12:105035808..105039700,3	K562	blood:
3	chr12:105031820..105034893-chr12:105036488..105039700,3	K562	blood:
4	chr12:105024362..105026244-chr12:105028872..105032799,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12810277	1.00[ASN][1000 genomes]
rs7299035	1.00[ASN][1000 genomes]
rs7961656	1.00[ASN][1000 genomes]
rs7971034	0.82[AMR][1000 genomes];1.00[EUR][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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1050695	chr12:105000981-105125161	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv541589	chr12:105000981-105125161	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105006200-105034800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:105013800-105037000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:105017000-105036000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr12:105020800-105037800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:105021000-105032800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:105021000-105037800	Weak transcription	NHEK	skin
7	chr12:105022400-105048200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:105022800-105043200	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:105023000-105036800	Weak transcription	Primary T cells from cord blood	blood
10	chr12:105024600-105044200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:105024800-105038200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:105026200-105033200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:105026800-105036800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:105027000-105032200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:105027200-105032200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:105027600-105038000	Weak transcription	Colonic Mucosa	Colon
17	chr12:105027800-105037800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:105028400-105034400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:105029000-105032800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:105029400-105033200	Weak transcription	Fetal Thymus	thymus
21	chr12:105029600-105032400	Weak transcription	HSMMtube	muscle
22	chr12:105029600-105034600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:105030200-105034400	Weak transcription	Thymus	Thymus
24	chr12:105030400-105032800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:105030400-105033000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:105030400-105037400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr12:105030600-105033000	Enhancers	Primary hematopoietic stem cells	blood
28	chr12:105030600-105036600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr12:105030600-105037400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr12:105030800-105032000	Enhancers	Primary T cells fromperipheralblood	blood
31	chr12:105030800-105032200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:105030800-105033600	Enhancers	Right Atrium	heart
33	chr12:105030800-105037200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr12:105031400-105032200	Enhancers	Adipose Nuclei	Adipose
35	chr12:105031400-105032400	Enhancers	Duodenum Mucosa	Duodenum
36	chr12:105031400-105032600	Enhancers	Spleen	Spleen
37	chr12:105031400-105032600	Enhancers	GM12878-XiMat	blood
38	chr12:105031400-105032800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr12:105031400-105033000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr12:105031400-105033400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr12:105031400-105033400	Genic enhancers	Primary B cells from peripheral blood	blood
42	chr12:105031400-105033600	Enhancers	Left Ventricle	heart
43	chr12:105031400-105033600	Enhancers	Right Ventricle	heart
44	chr12:105031400-105034600	ZNF genes & repeats	Dnd41	blood
45	chr12:105031600-105032000	Enhancers	Primary B cells from cord blood	blood
46	chr12:105031600-105032200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:105031600-105034000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:105031800-105032200	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr12:105031800-105032200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr12:105031800-105032400	Enhancers	Stomach Smooth Muscle	stomach

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