Variant report

Variant	rs3814399
Chromosome Location	chr3:112991492-112991493
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr3:112990664-112991660	PBDE	blood:	n/a	n/a
2	MYC	chr3:112991417-112991513	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
BOC	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10511325	0.92[JPT][hapmap]
rs11920725	0.92[JPT][hapmap]
rs11922838	0.92[JPT][hapmap]
rs11923128	0.92[JPT][hapmap]
rs11926687	0.92[JPT][hapmap]
rs1463639	0.91[JPT][hapmap]
rs1499898	0.88[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs16845106	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs16845109	0.92[JPT][hapmap]
rs16860709	0.88[CHB][hapmap];0.94[CHD][hapmap];0.82[JPT][hapmap]
rs16860720	0.88[CHB][hapmap];0.94[CHD][hapmap];0.82[JPT][hapmap]
rs16860962	0.92[JPT][hapmap]
rs16861014	0.92[JPT][hapmap]
rs16861023	0.92[JPT][hapmap]
rs16861025	1.00[JPT][hapmap]
rs16861032	1.00[JPT][hapmap]
rs17256551	0.92[JPT][hapmap]
rs1906141	0.92[JPT][hapmap]
rs2129432	0.92[JPT][hapmap]
rs9820139	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs9832953	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs9849714	0.88[CHB][hapmap];0.94[CHD][hapmap];0.82[JPT][hapmap]
rs9872998	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs9878424	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs999365	0.86[CHB][hapmap];0.82[JPT][hapmap]

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	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	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv877348	chr3:112914756-113012509	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers 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	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112969000-112995200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr3:112969800-112991800	Weak transcription	Right Ventricle	heart
3	chr3:112969800-112994200	Weak transcription	Spleen	Spleen
4	chr3:112973600-112993000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:112973600-112997200	Weak transcription	Colonic Mucosa	Colon
6	chr3:112974200-112994600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:112981600-112994400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:112982800-112993600	Weak transcription	HMEC	breast
9	chr3:112983800-112995000	Weak transcription	Lung	lung
10	chr3:112984000-112994400	Weak transcription	HSMMtube	muscle
11	chr3:112984200-112993600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr3:112984200-112994400	Weak transcription	HSMM	muscle
13	chr3:112984600-112993400	Weak transcription	Fetal Brain Male	brain
14	chr3:112984800-112992400	Weak transcription	Fetal Thymus	thymus
15	chr3:112984800-112993000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr3:112984800-112998400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr3:112984800-113016400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr3:112985400-112993600	Strong transcription	Fetal Lung	lung
19	chr3:112986200-112994200	Strong transcription	Ovary	ovary
20	chr3:112986400-112993000	Strong transcription	Fetal Intestine Small	intestine
21	chr3:112986400-112994600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr3:112986600-112993800	Weak transcription	Brain Substantia Nigra	brain
23	chr3:112987200-112993400	Strong transcription	Fetal Stomach	stomach
24	chr3:112987200-112994400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr3:112987800-112996000	Enhancers	Pancreas	Pancrea
26	chr3:112988000-112992200	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr3:112988000-112993600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:112988000-112993800	Weak transcription	Brain Angular Gyrus	brain
29	chr3:112988000-113003000	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr3:112988200-112992600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:112988200-112993400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr3:112988200-112993600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr3:112988200-112993800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr3:112988200-112994200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr3:112988200-112994200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr3:112988200-112994600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr3:112988400-112991600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr3:112988400-112994000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:112988400-112994600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr3:112988400-112996800	Weak transcription	Placenta	Placenta
41	chr3:112989000-112993000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr3:112989000-112993600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr3:112989000-112994000	Weak transcription	Brain Anterior Caudate	brain
44	chr3:112989000-112997000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr3:112989200-112993600	Strong transcription	Rectal Smooth Muscle	rectum
46	chr3:112989400-112992000	Strong transcription	Adipose Nuclei	Adipose
47	chr3:112989400-112993800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr3:112989400-112993800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr3:112989400-112994200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr3:112989600-112994200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links