Variant report

Variant	rs34574998
Chromosome Location	chr12:57548364-57548365
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57548120..57550577-chr12:57562070..57564152,2	MCF-7	breast:
2	chr12:57547530..57549033-chr12:57566577..57569011,2	K562	blood:
3	chr12:57535971..57538449-chr12:57547472..57549563,2	K562	blood:
4	chr12:57535971..57540591-chr12:57547463..57549563,4	K562	blood:
5	chr12:57520230..57522736-chr12:57546333..57548488,2	MCF-7	breast:
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	chr12:57520808..57524870-chr12:57548042..57550646,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000123384	Chromatin interaction
ENSG00000166888	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11831937	0.83[MKK][hapmap]
rs35253246	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73342531	0.83[AFR][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:105 , 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	chr12:57538800-57549000	Genic enhancers	Placenta	Placenta
4	chr12:57539400-57556600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr12:57540400-57548400	Weak transcription	Fetal Brain Male	brain
6	chr12:57540600-57569400	Strong transcription	Brain Germinal Matrix	brain
7	chr12:57540800-57549800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:57541600-57560800	Strong transcription	Placenta Amnion	Placenta Amnion
9	chr12:57541600-57606600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:57541800-57607400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:57542200-57565600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:57542600-57548600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:57543200-57558600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:57543400-57558400	Weak transcription	A549	lung
15	chr12:57543800-57549600	Genic enhancers	HepG2	liver
16	chr12:57543800-57555000	Weak transcription	Fetal Heart	heart
17	chr12:57544800-57549200	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
18	chr12:57544800-57555000	Weak transcription	Fetal Kidney	kidney
19	chr12:57546200-57548600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:57546200-57550200	Weak transcription	Fetal Thymus	thymus
21	chr12:57546400-57551800	Strong transcription	Fetal Intestine Large	intestine
22	chr12:57546600-57565200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:57546800-57548400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:57546800-57553600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:57546800-57554000	Genic enhancers	Adipose Nuclei	Adipose
26	chr12:57546800-57557000	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr12:57547000-57549000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:57547000-57551800	Strong transcription	Fetal Intestine Small	intestine
29	chr12:57547000-57552000	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:57547000-57555200	Weak transcription	HMEC	breast
31	chr12:57547000-57556200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:57547000-57565200	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:57547000-57575600	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr12:57547000-57575600	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:57547000-57606400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr12:57547200-57548400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:57547200-57548400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
38	chr12:57547200-57548800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:57547200-57549200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:57547200-57549400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr12:57547200-57549800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:57547200-57550000	Strong transcription	Stomach Smooth Muscle	stomach
43	chr12:57547200-57550400	Strong transcription	Fetal Muscle Trunk	muscle
44	chr12:57547200-57551800	Strong transcription	Fetal Lung	lung
45	chr12:57547200-57552000	Strong transcription	Fetal Stomach	stomach
46	chr12:57547200-57555200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:57547200-57558800	Weak transcription	NHEK	skin
48	chr12:57547200-57562400	Weak transcription	Small Intestine	intestine
49	chr12:57547400-57548600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:57547400-57548600	Weak transcription	Stomach Mucosa	stomach

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