Variant report

Variant	rs12047449
Chromosome Location	chr1:46673220-46673221
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:46671342..46673324-chr1:46681676..46684162,2	K562	blood:
2	chr1:46648441..46650713-chr1:46672694..46674591,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117472	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11584024	0.83[EUR][1000 genomes]
rs11584436	0.83[EUR][1000 genomes]
rs2292486	0.95[ASN][1000 genomes]
rs61784560	0.85[EUR][1000 genomes]
rs61784561	0.85[EUR][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	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS 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	232 gene(s)	inside rSNPs	diseases
2	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
3	nsv1005189	chr1:46335186-46949309	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv534946	chr1:46335186-46949309	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
5	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv470711	chr1:46660295-46810530	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46669400-46676000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:46670200-46676400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:46670200-46677800	Enhancers	Placenta	Placenta
4	chr1:46670400-46685400	Weak transcription	Aorta	Aorta
5	chr1:46670400-46685400	Weak transcription	Brain Germinal Matrix	brain
6	chr1:46670400-46689000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:46670400-46689400	Weak transcription	HSMM	muscle
8	chr1:46670600-46673400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:46670600-46675400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:46670600-46677800	Weak transcription	Lung	lung
11	chr1:46670600-46680400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:46670600-46684000	Weak transcription	Fetal Stomach	stomach
13	chr1:46670600-46684200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:46670600-46687200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:46670600-46689400	Weak transcription	Osteobl	bone
16	chr1:46671000-46689400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:46671600-46674000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:46671600-46689000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:46671800-46676400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:46671800-46676800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:46671800-46683600	Weak transcription	NHEK	skin
22	chr1:46671800-46685200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:46671800-46685400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:46671800-46689000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:46672000-46673800	Weak transcription	HMEC	breast
26	chr1:46672000-46676200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:46672000-46676600	Weak transcription	K562	blood
28	chr1:46672200-46675200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:46672400-46684200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:46672400-46689400	Weak transcription	Left Ventricle	heart
31	chr1:46672600-46674000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:46672600-46674200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:46672600-46674400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:46672600-46676800	Weak transcription	Esophagus	oesophagus
35	chr1:46672600-46684000	Weak transcription	Brain Substantia Nigra	brain
36	chr1:46672600-46684200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr1:46672600-46685000	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:46672600-46685000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:46672600-46685400	Weak transcription	Brain Anterior Caudate	brain
40	chr1:46672600-46689400	Weak transcription	Ovary	ovary
41	chr1:46672800-46684200	Weak transcription	Fetal Brain Female	brain
42	chr1:46672800-46685600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:46672800-46686400	Weak transcription	Colon Smooth Muscle	Colon
44	chr1:46672800-46689400	Weak transcription	Right Ventricle	heart
45	chr1:46673000-46673800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr1:46673000-46675400	Weak transcription	Fetal Heart	heart
47	chr1:46673000-46676000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr1:46673000-46683200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:46673000-46685200	Weak transcription	Brain Angular Gyrus	brain
50	chr1:46673000-46685200	Weak transcription	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links