Variant report

Variant	rs12477925
Chromosome Location	chr2:99091799-99091800
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99091313..99093056-chr2:99094548..99096331,2	MCF-7	breast:
2	chr2:99091514..99094203-chr2:99098934..99100639,2	MCF-7	breast:
3	chr2:99081238..99085183-chr2:99088495..99091939,4	MCF-7	breast:
4	chr2:99089938..99092200-chr2:99129449..99131064,2	K562	blood:
5	chr2:99080684..99083981-chr2:99090485..99094412,5	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs13016305	1.00[AFR][1000 genomes]
rs35612603	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1006328	chr2:98977192-99210376	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1007244	chr2:99063753-99136472	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3404703	chr2:99087420-99091918	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99072400-99095000	Weak transcription	Fetal Intestine Large	intestine
2	chr2:99072600-99119600	Weak transcription	Aorta	Aorta
3	chr2:99075600-99091800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:99076400-99095400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:99078400-99095600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:99080200-99094200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:99081400-99095800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:99082600-99096200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:99083200-99091800	Weak transcription	NHEK	skin
10	chr2:99083200-99093000	Weak transcription	Fetal Heart	heart
11	chr2:99083200-99094200	Weak transcription	Placenta	Placenta
12	chr2:99083800-99094400	Weak transcription	Dnd41	blood
13	chr2:99084800-99095600	Weak transcription	Fetal Kidney	kidney
14	chr2:99085600-99092800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:99085800-99095600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:99086200-99093400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr2:99086400-99091800	Enhancers	Lung	lung
18	chr2:99086400-99098800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr2:99086600-99093600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:99086600-99097400	Enhancers	Colonic Mucosa	Colon
21	chr2:99086800-99091800	Enhancers	Left Ventricle	heart
22	chr2:99087200-99094800	Weak transcription	Liver	Liver
23	chr2:99088000-99095200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr2:99088400-99094000	Enhancers	Stomach Smooth Muscle	stomach
25	chr2:99088600-99091800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:99088600-99091800	Enhancers	Gastric	stomach
27	chr2:99088600-99096000	Weak transcription	Ovary	ovary
28	chr2:99088800-99096200	Weak transcription	HSMMtube	muscle
29	chr2:99089000-99091800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:99089000-99092600	Weak transcription	Fetal Lung	lung
31	chr2:99089000-99094200	Weak transcription	Brain Hippocampus Middle	brain
32	chr2:99089000-99094200	Weak transcription	Fetal Brain Male	brain
33	chr2:99089000-99095400	Weak transcription	Adipose Nuclei	Adipose
34	chr2:99089000-99099400	Enhancers	Colon Smooth Muscle	Colon
35	chr2:99089000-99100000	Weak transcription	HepG2	liver
36	chr2:99089200-99092800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:99089200-99094000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr2:99089200-99094200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr2:99089200-99094200	Weak transcription	Psoas Muscle	Psoas
40	chr2:99089600-99093200	Enhancers	Small Intestine	intestine
41	chr2:99090000-99091800	Enhancers	Thymus	Thymus
42	chr2:99090000-99092800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr2:99090000-99094000	Weak transcription	Brain Angular Gyrus	brain
44	chr2:99090000-99098000	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr2:99090000-99098800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:99090200-99092800	Weak transcription	Spleen	Spleen
47	chr2:99090200-99093600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:99090200-99093800	Weak transcription	Brain Anterior Caudate	brain
49	chr2:99090200-99095600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:99090400-99092600	Enhancers	Fetal Muscle Leg	muscle

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