Variant report

Variant	rs1881947
Chromosome Location	chr3:112867130-112867131
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:112865633..112868819-chr3:112877200..112880555,3	MCF-7	breast:
2	chr3:112866581..112868430-chr3:112875306..112877224,2	K562	blood:

Variant related genes	Relation type
ENSG00000240057	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10934216	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10934217	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12486277	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1797621	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1797622	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1881943	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2045687	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2045688	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2045691	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2613919	0.80[ASN][1000 genomes]
rs2613920	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2613921	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2613922	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2700202	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2700203	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2700204	0.80[ASN][1000 genomes]
rs2700206	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2926811	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2951458	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2951459	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2951460	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2951462	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2951463	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3852010	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4387939	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62262831	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6438130	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6807101	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7632483	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7650532	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs878460	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9829983	0.94[AMR][1000 genomes];0.89[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	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv829677	chr3:112857075-113038987	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1003511	chr3:112858775-112989045	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112858600-112867400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr3:112863400-112870600	Weak transcription	Left Ventricle	heart
3	chr3:112864600-112867600	Enhancers	Colon Smooth Muscle	Colon
4	chr3:112865200-112871400	Enhancers	Fetal Stomach	stomach
5	chr3:112865400-112867600	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr3:112865600-112870000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr3:112865600-112870000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr3:112865800-112867200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr3:112865800-112870400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr3:112866000-112868200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr3:112866200-112868200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr3:112866400-112867600	Enhancers	Adipose Nuclei	Adipose
13	chr3:112866400-112867800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:112866400-112867800	Enhancers	NHEK	skin
15	chr3:112866400-112869800	Enhancers	Fetal Muscle Leg	muscle
16	chr3:112866600-112867800	Enhancers	Fetal Kidney	kidney
17	chr3:112866600-112868000	Enhancers	Placenta Amnion	Placenta Amnion
18	chr3:112866600-112868200	Enhancers	Placenta	Placenta
19	chr3:112866600-112868200	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr3:112866800-112867400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:112866800-112867400	Flanking Active TSS	Fetal Muscle Trunk	muscle
22	chr3:112866800-112867600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:112866800-112867600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr3:112866800-112867600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr3:112866800-112867600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr3:112866800-112867600	Enhancers	Esophagus	oesophagus
27	chr3:112866800-112867600	Enhancers	Psoas Muscle	Psoas
28	chr3:112866800-112867600	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr3:112866800-112867600	Enhancers	Small Intestine	intestine
30	chr3:112866800-112867800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:112866800-112867800	Enhancers	Ovary	ovary
32	chr3:112866800-112867800	Flanking Active TSS	Rectal Smooth Muscle	rectum
33	chr3:112866800-112867800	Enhancers	HMEC	breast
34	chr3:112866800-112868000	Enhancers	Fetal Brain Female	brain
35	chr3:112866800-112868200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr3:112866800-112868200	Enhancers	Fetal Lung	lung
37	chr3:112866800-112869600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr3:112867000-112867200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr3:112867000-112867200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr3:112867000-112867200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr3:112867000-112867200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr3:112867000-112867400	Enhancers	Fetal Intestine Large	intestine
43	chr3:112867000-112867600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr3:112867000-112867600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr3:112867000-112867600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr3:112867000-112867600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr3:112867000-112867600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
48	chr3:112867000-112867600	Enhancers	Spleen	Spleen
49	chr3:112867000-112869000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr3:112867000-112869200	Weak transcription	Pancreas	Pancrea

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