Variant report

Variant	rs17242578
Chromosome Location	chr14:20784431-20784432
allele	A/G
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	POLR2A	chr14:20784055-20788798	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr14:20784235-20784604	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr14:20784343-20785142	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:20784268-20784775	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr14:20784314-20784684	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr14:20783729-20784998	K562	blood:	n/a	n/a
7	POLR2A	chr14:20784403-20784434	K562	blood:	n/a	n/a

Variant related genes	Relation type
CCNB1IP1	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1713411	1.00[CHB][hapmap]
rs1713432	1.00[CHB][hapmap]
rs17308324	0.93[ASN][1000 genomes]
rs1760914	1.00[CHB][hapmap]
rs1760920	1.00[CHB][hapmap]
rs1760921	1.00[CHB][hapmap]
rs28436279	0.94[ASN][1000 genomes]
rs3784243	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56960933	0.93[ASN][1000 genomes]
rs61995535	0.91[ASN][1000 genomes]
rs6575166	0.91[ASN][1000 genomes]
rs6575167	1.00[CHB][hapmap];0.81[JPT][hapmap];0.93[ASN][1000 genomes]
rs7140961	0.92[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs7149338	0.93[ASN][1000 genomes]
rs7153417	1.00[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap];0.93[ASN][1000 genomes]
rs8009806	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs878156	1.00[CHB][hapmap]

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	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv1037160	chr14:20517485-20901811	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
4	nsv541974	chr14:20517485-20901811	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
5	esv1806993	chr14:20743269-20841162	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
6	nsv534131	chr14:20757405-20886235	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20774200-20785000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:20774200-20785000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:20774200-20785400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:20774200-20785400	Weak transcription	Thymus	Thymus
5	chr14:20774200-20785400	Weak transcription	Spleen	Spleen
6	chr14:20774200-20785600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:20774200-20785800	Weak transcription	Gastric	stomach
8	chr14:20774200-20786000	Weak transcription	Pancreas	Pancrea
9	chr14:20774200-20795400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr14:20774200-20795600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr14:20774200-20795600	Weak transcription	Fetal Heart	heart
12	chr14:20774200-20800400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr14:20774200-20800400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:20774200-20800400	Weak transcription	Fetal Brain Male	brain
15	chr14:20774200-20800400	Weak transcription	Stomach Mucosa	stomach
16	chr14:20774200-20800600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr14:20774200-20800800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr14:20774200-20800800	Weak transcription	Small Intestine	intestine
19	chr14:20774400-20787200	Weak transcription	Brain Germinal Matrix	brain
20	chr14:20778800-20798600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:20779000-20795600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr14:20779400-20787000	Strong transcription	Fetal Muscle Trunk	muscle
23	chr14:20779400-20788400	Strong transcription	Duodenum Mucosa	Duodenum
24	chr14:20779400-20788600	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr14:20779400-20788800	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr14:20779400-20788800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr14:20779400-20790200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:20779400-20794000	Strong transcription	Left Ventricle	heart
29	chr14:20779400-20794200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:20779400-20794800	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr14:20779400-20794800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:20779400-20795000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:20779400-20795000	Strong transcription	Osteobl	bone
34	chr14:20779400-20795200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:20779400-20795200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:20779400-20795400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr14:20779400-20797000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:20779400-20797200	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr14:20779400-20797800	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr14:20779400-20798000	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr14:20779400-20799000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:20779600-20784800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:20779600-20784800	Strong transcription	Fetal Thymus	thymus
44	chr14:20779600-20784800	Strong transcription	HMEC	breast
45	chr14:20779600-20784800	Strong transcription	K562	blood
46	chr14:20779600-20784800	Strong transcription	NHDF-Ad	bronchial
47	chr14:20779600-20785000	Strong transcription	GM12878-XiMat	blood
48	chr14:20779600-20785000	Strong transcription	NHEK	skin
49	chr14:20779600-20787400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr14:20779600-20787400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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