Variant report

Variant	rs34241718
Chromosome Location	chr12:57549090-57549091
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57548120..57550577-chr12:57562070..57564152,2	MCF-7	breast:
2	chr12:57548987..57552040-chr12:57553408..57556684,3	K562	blood:
3	chr12:57545114..57546805-chr12:57549021..57551605,2	K562	blood:
4	chr12:57535971..57538449-chr12:57547472..57549563,2	K562	blood:
5	chr12:57535971..57540591-chr12:57547463..57549563,4	K562	blood:
6	chr12:57545710..57547260-chr12:57547807..57550752,2	MCF-7	breast:
7	chr12:57504831..57506712-chr12:57547299..57549912,2	K562	blood:
8	chr12:57544895..57546805-chr12:57548251..57551605,3	K562	blood:
9	chr12:57548934..57549593-chr12:57576424..57576973,2	K562	blood:
10	chr12:57520808..57524870-chr12:57548042..57550646,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166888	Chromatin interaction
ENSG00000123384	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11172083	1.00[AMR][1000 genomes]
rs11172087	1.00[AMR][1000 genomes]
rs2229281	1.00[AMR][1000 genomes]
rs34035404	1.00[AMR][1000 genomes]
rs57244425	1.00[AMR][1000 genomes]
rs60301769	1.00[AMR][1000 genomes]
rs60957079	1.00[AMR][1000 genomes]
rs61609471	1.00[AMR][1000 genomes]
rs73330570	1.00[AMR][1000 genomes]
rs73330571	1.00[AMR][1000 genomes]
rs73332659	1.00[AMR][1000 genomes]
rs73332662	1.00[AMR][1000 genomes]
rs73332664	1.00[AMR][1000 genomes]
rs73332676	1.00[AMR][1000 genomes]
rs73332678	1.00[AMR][1000 genomes]
rs73332681	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv559023	chr12:57530670-57616061	Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv518980	chr12:57532982-57637593	Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv899112	chr12:57535266-57601388	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv525873	chr12:57535266-57616013	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv899113	chr12:57543572-57601388	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57523400-57557200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:57531800-57576000	Strong transcription	Fetal Brain Female	brain
3	chr12:57539400-57556600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:57540600-57569400	Strong transcription	Brain Germinal Matrix	brain
5	chr12:57540800-57549800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:57541600-57560800	Strong transcription	Placenta Amnion	Placenta Amnion
7	chr12:57541600-57606600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:57541800-57607400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:57542200-57565600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:57543200-57558600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:57543400-57558400	Weak transcription	A549	lung
12	chr12:57543800-57549600	Genic enhancers	HepG2	liver
13	chr12:57543800-57555000	Weak transcription	Fetal Heart	heart
14	chr12:57544800-57549200	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
15	chr12:57544800-57555000	Weak transcription	Fetal Kidney	kidney
16	chr12:57546200-57550200	Weak transcription	Fetal Thymus	thymus
17	chr12:57546400-57551800	Strong transcription	Fetal Intestine Large	intestine
18	chr12:57546600-57565200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:57546800-57553600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:57546800-57554000	Genic enhancers	Adipose Nuclei	Adipose
21	chr12:57546800-57557000	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:57547000-57551800	Strong transcription	Fetal Intestine Small	intestine
23	chr12:57547000-57552000	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:57547000-57555200	Weak transcription	HMEC	breast
25	chr12:57547000-57556200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:57547000-57565200	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr12:57547000-57575600	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr12:57547000-57575600	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr12:57547000-57606400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr12:57547200-57549200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:57547200-57549400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr12:57547200-57549800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:57547200-57550000	Strong transcription	Stomach Smooth Muscle	stomach
34	chr12:57547200-57550400	Strong transcription	Fetal Muscle Trunk	muscle
35	chr12:57547200-57551800	Strong transcription	Fetal Lung	lung
36	chr12:57547200-57552000	Strong transcription	Fetal Stomach	stomach
37	chr12:57547200-57555200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:57547200-57558800	Weak transcription	NHEK	skin
39	chr12:57547200-57562400	Weak transcription	Small Intestine	intestine
40	chr12:57547400-57550000	Strong transcription	Fetal Muscle Leg	muscle
41	chr12:57547400-57550200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:57547400-57551600	Strong transcription	Esophagus	oesophagus
43	chr12:57547400-57551800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:57547400-57552000	Strong transcription	Colonic Mucosa	Colon
45	chr12:57547400-57552000	Weak transcription	Right Atrium	heart
46	chr12:57547400-57554000	Genic enhancers	Primary monocytes fromperipheralblood	blood
47	chr12:57547400-57554200	Strong transcription	Osteobl	bone
48	chr12:57547400-57554600	Strong transcription	NHLF	lung
49	chr12:57547400-57558400	Strong transcription	HSMMtube	muscle
50	chr12:57547400-57567400	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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