Variant report

Variant	rs55941206
Chromosome Location	chr12:106505838-106505839
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:106499591..106503536-chr12:106504416..106508585,6	MCF-7	breast:
2	chr12:106504477..106507243-chr12:106513286..106514940,2	MCF-7	breast:
3	chr12:106476871..106479855-chr12:106504214..106506974,2	MCF-7	breast:
4	chr12:106500371..106501923-chr12:106505629..106508157,2	MCF-7	breast:
5	chr12:106505826..106508557-chr12:106531919..106534995,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000074590	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10492351	0.95[EUR][1000 genomes]
rs12318540	0.92[EUR][1000 genomes]
rs55657928	0.95[ASN][1000 genomes]
rs56027035	0.89[EUR][1000 genomes]
rs7138598	0.95[EUR][1000 genomes]
rs73193855	0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832509	chr12:106363888-106516221	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106493400-106512400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:106495600-106507200	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr12:106498400-106507200	Weak transcription	Pancreas	Pancrea
4	chr12:106499600-106511400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:106499800-106507800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:106499800-106508400	Genic enhancers	HSMM	muscle
7	chr12:106500000-106506200	Enhancers	NHEK	skin
8	chr12:106500000-106507000	Enhancers	Adipose Nuclei	Adipose
9	chr12:106500000-106507400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr12:106500000-106510000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr12:106500200-106507400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr12:106500200-106510200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:106500200-106514000	Enhancers	Liver	Liver
14	chr12:106500600-106507400	Enhancers	HepG2	liver
15	chr12:106500600-106508600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr12:106500600-106508600	Enhancers	Right Atrium	heart
17	chr12:106500800-106506200	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr12:106500800-106507600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr12:106500800-106510200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:106500800-106521800	Enhancers	Brain Angular Gyrus	brain
21	chr12:106501200-106516800	Enhancers	Right Ventricle	heart
22	chr12:106501400-106510400	Enhancers	Fetal Brain Female	brain
23	chr12:106502000-106507400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr12:106502200-106507000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:106502400-106506000	Weak transcription	Esophagus	oesophagus
26	chr12:106502400-106506000	Weak transcription	NHLF	lung
27	chr12:106502400-106507000	Enhancers	Stomach Smooth Muscle	stomach
28	chr12:106502400-106510000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr12:106502600-106506000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:106502600-106509400	Weak transcription	Gastric	stomach
31	chr12:106502800-106506000	Weak transcription	Fetal Stomach	stomach
32	chr12:106502800-106506000	Weak transcription	NHDF-Ad	bronchial
33	chr12:106502800-106506200	Weak transcription	Colon Smooth Muscle	Colon
34	chr12:106502800-106506400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr12:106502800-106507600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr12:106502800-106507600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr12:106503000-106506000	Weak transcription	Ovary	ovary
38	chr12:106503000-106506400	Enhancers	Fetal Heart	heart
39	chr12:106503000-106506400	Weak transcription	Stomach Mucosa	stomach
40	chr12:106503000-106507000	Weak transcription	Fetal Kidney	kidney
41	chr12:106503200-106506000	Weak transcription	Lung	lung
42	chr12:106503200-106507000	Enhancers	Brain Hippocampus Middle	brain
43	chr12:106503200-106508000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr12:106503400-106506000	Weak transcription	Osteobl	bone
45	chr12:106503600-106506200	Weak transcription	Aorta	Aorta
46	chr12:106503600-106510800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:106503800-106506000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:106503800-106506800	Weak transcription	HUVEC	blood vessel
49	chr12:106503800-106507000	Weak transcription	Brain Germinal Matrix	brain
50	chr12:106504000-106506000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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