Variant report

Variant	rs34833559
Chromosome Location	chr12:57540705-57540706
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57539438..57541143-chr12:57542720..57545072,2	K562	blood:
2	chr12:57520592..57523929-chr12:57539571..57544778,8	MCF-7	breast:
3	chr12:57525779..57529405-chr12:57538402..57541799,3	MCF-7	breast:
4	chr12:57533511..57536454-chr12:57538764..57541311,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123384	Chromatin interaction
ENSG00000166888	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs35835063	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

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	chr12:57524000-57542200	Weak transcription	HMEC	breast
3	chr12:57524000-57543000	Weak transcription	NHEK	skin
4	chr12:57531200-57542800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:57531600-57544000	Strong transcription	H9 Cell Line	embryonic stem cell
6	chr12:57531800-57542800	Weak transcription	Psoas Muscle	Psoas
7	chr12:57531800-57544200	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:57531800-57545000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:57531800-57545200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:57531800-57576000	Strong transcription	Fetal Brain Female	brain
11	chr12:57532200-57541000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:57532200-57544000	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:57532400-57541000	Strong transcription	Placenta Amnion	Placenta Amnion
14	chr12:57532400-57542600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:57532800-57541800	Strong transcription	Esophagus	oesophagus
16	chr12:57533000-57542400	Genic enhancers	Adipose Nuclei	Adipose
17	chr12:57533400-57541600	Genic enhancers	Liver	Liver
18	chr12:57534400-57540800	Weak transcription	A549	lung
19	chr12:57534800-57541200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:57534800-57542600	Genic enhancers	Brain Hippocampus Middle	brain
21	chr12:57535200-57543800	Genic enhancers	Brain Cingulate Gyrus	brain
22	chr12:57535400-57544800	Genic enhancers	Brain Anterior Caudate	brain
23	chr12:57537000-57544000	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr12:57537400-57544400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:57538400-57540800	Strong transcription	Pancreas	Pancrea
26	chr12:57538400-57544800	Genic enhancers	NHDF-Ad	bronchial
27	chr12:57538600-57540800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
28	chr12:57538600-57541000	Genic enhancers	Brain Substantia Nigra	brain
29	chr12:57538600-57541800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:57538600-57542400	Genic enhancers	Fetal Lung	lung
31	chr12:57538600-57543800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:57538600-57544000	Genic enhancers	Brain Inferior Temporal Lobe	brain
33	chr12:57538600-57545400	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:57538600-57545600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:57538600-57545600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:57538600-57547600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:57538600-57547600	Genic enhancers	HSMM	muscle
38	chr12:57538800-57541400	Genic enhancers	Right Ventricle	heart
39	chr12:57538800-57541600	Genic enhancers	Spleen	Spleen
40	chr12:57538800-57542200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:57538800-57542400	Genic enhancers	Muscle Satellite Cultured Cells	--
42	chr12:57538800-57542400	Genic enhancers	Gastric	stomach
43	chr12:57538800-57542600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
44	chr12:57538800-57547000	Genic enhancers	Fetal Intestine Small	intestine
45	chr12:57538800-57547400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:57538800-57547400	Genic enhancers	Fetal Muscle Leg	muscle
47	chr12:57538800-57547400	Genic enhancers	NHLF	lung
48	chr12:57538800-57549000	Genic enhancers	Placenta	Placenta
49	chr12:57539000-57540800	Genic enhancers	Left Ventricle	heart
50	chr12:57539000-57541000	Genic enhancers	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links