Variant report

Variant	rs9819287
Chromosome Location	chr3:150318998-150318999
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:150318960-150319218	K562	blood:	n/a	n/a
2	POLR2A	chr3:150318434-150319073	K562	blood:	n/a	n/a
3	POLR2A	chr3:150316259-150319258	GM12878	blood:	n/a	n/a
4	POLR2A	chr3:150318463-150319393	GM12892	blood:	n/a	n/a
5	POLR2A	chr3:150318332-150319339	GM12892	blood:	n/a	n/a
6	POLR2A	chr3:150318955-150319419	GM12878	blood:	n/a	n/a
7	TEAD4	chr3:150318359-150319029	K562	blood:	n/a	n/a
8	EBF1	chr3:150318559-150319254	GM12878	blood:	n/a	n/a
9	TAF1	chr3:150318443-150319027	K562	blood:	n/a	n/a
10	POLR2A	chr3:150318444-150319326	GM12878	blood:	n/a	n/a
11	POLR2A	chr3:150318473-150319300	GM12892	blood:	n/a	n/a
12	POLR2A	chr3:150318319-150319243	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150260773..150268334-chr3:150317152..150324883,17	K562	blood:
2	chr3:150318641..150323079-chr3:150479217..150482794,6	MCF-7	breast:
3	chr3:150318777..150323048-chr3:150479715..150482584,4	K562	blood:
4	chr3:150262918..150266548-chr3:150316977..150319040,3	K562	blood:
5	chr3:150317577..150319249-chr3:150479871..150481805,2	MCF-7	breast:
6	chr3:150316261..150319464-chr3:150319733..150322939,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198843	TF binding region
ENSG00000144895	Chromatin interaction
ENSG00000198843	Chromatin interaction
ENSG00000181788	Chromatin interaction
ENSG00000120742	Chromatin interaction
ENSG00000244265	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1133494	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13097283	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs14434	0.89[ASN][1000 genomes]
rs1464517	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1818788	1.00[ASN][1000 genomes]
rs1915942	1.00[ASN][1000 genomes]
rs1915943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2049229	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2090916	0.89[ASN][1000 genomes]
rs2204112	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2868946	0.89[ASN][1000 genomes]
rs2868947	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6440683	0.89[ASN][1000 genomes]
rs6790726	0.81[ASN][1000 genomes]
rs6798173	0.88[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs6801796	0.88[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs7374917	0.89[ASN][1000 genomes]
rs7433606	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs7628889	0.89[ASN][1000 genomes]
rs7631671	0.89[ASN][1000 genomes]
rs7638500	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7642917	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9289818	0.89[ASN][1000 genomes]
rs9289821	1.00[ASN][1000 genomes]
rs954068	0.81[ASN][1000 genomes]
rs9809820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9836797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9842446	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9865177	1.00[ASN][1000 genomes]
rs9874800	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150265600-150320600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:150265600-150320600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:150301600-150320200	Weak transcription	Small Intestine	intestine
4	chr3:150302400-150320000	Weak transcription	Brain Germinal Matrix	brain
5	chr3:150303600-150319200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr3:150303800-150320000	Weak transcription	Colon Smooth Muscle	Colon
7	chr3:150303800-150320000	Weak transcription	Fetal Brain Female	brain
8	chr3:150303800-150320000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr3:150303800-150320800	Weak transcription	Lung	lung
10	chr3:150303800-150320800	Weak transcription	Spleen	Spleen
11	chr3:150304000-150320000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr3:150304000-150320000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr3:150304000-150320000	Weak transcription	Fetal Stomach	stomach
14	chr3:150304000-150320600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr3:150304400-150320000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr3:150304400-150320200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr3:150304400-150320600	Weak transcription	Ovary	ovary
18	chr3:150304800-150320400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr3:150306200-150320000	Weak transcription	Left Ventricle	heart
20	chr3:150306400-150319000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr3:150312800-150320000	Weak transcription	Fetal Intestine Small	intestine
22	chr3:150315600-150319000	Enhancers	Primary B cells from peripheral blood	blood
23	chr3:150315600-150319200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr3:150315600-150320000	Enhancers	HMEC	breast
25	chr3:150316200-150319000	Enhancers	Placenta	Placenta
26	chr3:150316400-150319000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr3:150316400-150319800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:150316800-150319200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr3:150316800-150319200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:150316800-150319200	Enhancers	Placenta Amnion	Placenta Amnion
31	chr3:150316800-150319400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr3:150317000-150319200	Enhancers	Fetal Heart	heart
33	chr3:150317200-150320000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:150317200-150320200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:150317200-150320200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr3:150317200-150320200	Weak transcription	Right Atrium	heart
37	chr3:150317400-150320200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr3:150317600-150319600	Enhancers	HepG2	liver
39	chr3:150317600-150320200	Weak transcription	HSMMtube	muscle
40	chr3:150317800-150319200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr3:150317800-150319200	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr3:150317800-150320000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:150317800-150320000	Weak transcription	Primary B cells from cord blood	blood
44	chr3:150317800-150320000	Enhancers	Dnd41	blood
45	chr3:150318000-150319000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr3:150318000-150319200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:150318000-150319200	Enhancers	Pancreas	Pancrea
48	chr3:150318000-150320000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr3:150318000-150320000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr3:150318000-150320000	Weak transcription	Fetal Thymus	thymus

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