Variant report

Variant	rs55799627
Chromosome Location	chr12:104513941-104513942
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104500985..104502634-chr12:104512619..104514999,2	MCF-7	breast:
2	chr12:104510515..104519727-chr12:104525085..104533754,15	MCF-7	breast:
3	chr12:104512980..104514760-chr12:104522025..104524665,2	K562	blood:
4	chr12:104512826..104514662-chr12:104519104..104521337,2	K562	blood:
5	chr12:104513301..104516062-chr12:104519027..104521801,2	MCF-7	breast:
6	chr12:104513649..104515856-chr12:104516374..104518763,2	MCF-7	breast:
7	chr12:104488622..104491408-chr12:104513242..104515456,2	MCF-7	breast:
8	chr12:104263974..104266600-chr12:104512244..104514894,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000120837	Chromatin interaction

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

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

rs_ID	r²[population]
rs73392505	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73392511	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73392513	0.93[AMR][1000 genomes];0.93[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	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv1823607	chr12:104506318-104549541	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	n/a
3	esv1816017	chr12:104510676-104531860	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104460000-104526200	Weak transcription	Colonic Mucosa	Colon
2	chr12:104493200-104514400	Weak transcription	NHEK	skin
3	chr12:104493400-104514400	Weak transcription	Brain Substantia Nigra	brain
4	chr12:104493400-104519200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:104493400-104519800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:104493600-104517400	Weak transcription	Right Ventricle	heart
7	chr12:104493800-104515400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:104493800-104518400	Weak transcription	Gastric	stomach
9	chr12:104493800-104530600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:104494400-104514000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:104494400-104516200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:104494400-104516200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:104494400-104521000	Weak transcription	Lung	lung
14	chr12:104494400-104521200	Weak transcription	Aorta	Aorta
15	chr12:104494400-104522600	Weak transcription	Spleen	Spleen
16	chr12:104494600-104516000	Weak transcription	Fetal Stomach	stomach
17	chr12:104495600-104514200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:104495600-104530800	Weak transcription	Esophagus	oesophagus
19	chr12:104497000-104514200	Weak transcription	NHLF	lung
20	chr12:104497000-104516000	Weak transcription	Ovary	ovary
21	chr12:104497000-104516200	Weak transcription	Left Ventricle	heart
22	chr12:104497000-104524600	Weak transcription	Pancreas	Pancrea
23	chr12:104501200-104514800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr12:104501200-104519000	Weak transcription	K562	blood
25	chr12:104501400-104516000	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:104501600-104514400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr12:104502800-104526200	Weak transcription	Psoas Muscle	Psoas
28	chr12:104503000-104516000	Weak transcription	Thymus	Thymus
29	chr12:104503200-104514800	Weak transcription	Brain Anterior Caudate	brain
30	chr12:104503200-104519800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:104503400-104514800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr12:104503600-104514200	Weak transcription	Fetal Heart	heart
33	chr12:104503600-104514600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:104504000-104514000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr12:104504800-104514200	Weak transcription	HSMMtube	muscle
36	chr12:104505400-104514400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr12:104505400-104516000	Weak transcription	Brain Hippocampus Middle	brain
38	chr12:104505600-104516000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr12:104507200-104528000	Strong transcription	Placenta	Placenta
40	chr12:104508000-104514200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:104508000-104527000	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr12:104508000-104528800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:104508200-104525000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:104508200-104525400	Strong transcription	Dnd41	blood
45	chr12:104508200-104525600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr12:104508200-104526200	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr12:104508200-104526800	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr12:104508200-104529200	Strong transcription	Fetal Thymus	thymus
49	chr12:104508400-104514800	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr12:104508400-104528600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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