Variant report

Variant	rs57869449
Chromosome Location	chr3:112095293-112095294
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs56980412	0.92[AFR][1000 genomes]
rs61550429	1.00[AFR][1000 genomes]
rs72952426	0.84[AFR][1000 genomes]
rs72952459	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877341	chr3:112079277-112125521	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv1002567	chr3:112088498-112144063	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv2830128	chr3:112090292-112144026	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv591294	chr3:112091220-112208750	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv591295	chr3:112093413-112113334	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112069200-112095400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr3:112077600-112107200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr3:112080000-112096000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr3:112082200-112096000	Weak transcription	Fetal Stomach	stomach
5	chr3:112084800-112096000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:112084800-112096800	Weak transcription	Fetal Muscle Leg	muscle
7	chr3:112085000-112095600	Weak transcription	Thymus	Thymus
8	chr3:112085400-112096000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr3:112085600-112095400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr3:112085600-112096000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:112085800-112096400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr3:112085800-112096600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:112085800-112101400	Weak transcription	Aorta	Aorta
14	chr3:112086000-112095600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:112087600-112096400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:112091400-112098400	Enhancers	Adipose Nuclei	Adipose
17	chr3:112091600-112095600	Enhancers	Placenta	Placenta
18	chr3:112092600-112095600	Weak transcription	Primary T cells from cord blood	blood
19	chr3:112092600-112096600	Enhancers	Hela-S3	cervix
20	chr3:112092800-112095400	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr3:112092800-112095400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr3:112092800-112098000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:112093000-112096000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr3:112093200-112095600	Weak transcription	Fetal Kidney	kidney
25	chr3:112093400-112096000	Weak transcription	Small Intestine	intestine
26	chr3:112093400-112096400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr3:112093400-112097000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr3:112093600-112096400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:112094000-112098800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:112094000-112099600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr3:112094200-112095600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:112094200-112096400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr3:112094200-112098400	Enhancers	Fetal Lung	lung
34	chr3:112094400-112095600	Enhancers	Left Ventricle	heart
35	chr3:112094400-112095600	Enhancers	Right Ventricle	heart
36	chr3:112094400-112096400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr3:112094400-112097000	Enhancers	Right Atrium	heart
38	chr3:112094400-112100200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr3:112094400-112104400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr3:112094600-112095400	Weak transcription	Lung	lung
41	chr3:112094600-112097600	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr3:112094800-112096200	Enhancers	Fetal Intestine Large	intestine
43	chr3:112094800-112096200	Enhancers	Fetal Intestine Small	intestine
44	chr3:112094800-112096800	Enhancers	HUVEC	blood vessel
45	chr3:112094800-112098600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:112095000-112095400	Enhancers	Fetal Thymus	thymus
47	chr3:112095000-112097000	Enhancers	Duodenum Mucosa	Duodenum
48	chr3:112095000-112104200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr3:112095200-112095400	Enhancers	Primary B cells from cord blood	blood
50	chr3:112095200-112095600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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