Variant report

Variant	rs745079
Chromosome Location	chr14:104073551-104073552
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104072647..104074865-chr14:104093970..104096322,2	K562	blood:
2	chr14:104027231..104029989-chr14:104073451..104075622,2	MCF-7	breast:
3	chr14:104071968..104075598-chr14:104093991..104095637,3	MCF-7	breast:
4	chr14:104071103..104073870-chr14:104094480..104096781,3	MCF-7	breast:
5	chr14:104073010..104076125-chr14:104181634..104184420,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126215	Chromatin interaction
ENSG00000256053	Chromatin interaction
ENSG00000100711	Chromatin interaction
ENSG00000126214	Chromatin interaction
ENSG00000166170	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10047805	0.80[ASN][1000 genomes]
rs1078756	0.86[ASN][1000 genomes]
rs11160754	0.82[ASN][1000 genomes]
rs11160756	0.84[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.87[ASN][1000 genomes]
rs11625397	0.81[CEU][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap]
rs11626589	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11848721	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11850979	0.91[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap];0.86[YRI][hapmap];0.81[ASN][1000 genomes]
rs12435399	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12879004	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12897511	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2296483	0.86[CEU][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap]
rs2403202	1.00[CEU][hapmap]
rs28798508	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28823639	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2896488	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2896489	0.82[ASN][1000 genomes]
rs34258128	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35015260	0.87[ASN][1000 genomes]
rs3742465	0.91[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap];0.90[YRI][hapmap]
rs3759586	0.95[CEU][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4318144	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4374097	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4383078	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4444269	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4464019	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4900586	0.84[ASN][1000 genomes]
rs4900589	0.95[JPT][hapmap];0.90[YRI][hapmap]
rs4906340	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4906341	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4906342	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4906348	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4906349	0.80[EUR][1000 genomes]
rs57202218	0.84[ASN][1000 genomes]
rs58601596	0.86[ASN][1000 genomes]
rs61995761	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7145234	0.84[ASN][1000 genomes]
rs7154572	0.86[JPT][hapmap]
rs7155511	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7157116	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7161125	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs729437	0.81[ASW][hapmap];0.90[CEU][hapmap];0.80[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs752624	0.81[CEU][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap]
rs8003289	0.95[JPT][hapmap]
rs8005540	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8007489	0.88[ASW][hapmap];0.81[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.87[ASN][1000 genomes]
rs8007903	0.86[JPT][hapmap]
rs8007915	0.80[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs8008451	0.91[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap];0.90[YRI][hapmap];0.82[ASN][1000 genomes]
rs8012775	0.80[ASN][1000 genomes]
rs8020099	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8021368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs861537	0.88[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap]
rs861544	0.88[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.86[YRI][hapmap]
rs861545	0.80[CHB][hapmap];1.00[JPT][hapmap]
rs861547	0.80[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap]
rs8702	0.95[JPT][hapmap];0.89[YRI][hapmap]
rs9652403	0.86[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv902305	chr14:103979953-104073551	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv566022	chr14:104007555-104092789	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1052010	chr14:104061472-104216267	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv542201	chr14:104061472-104216267	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv456435	chr14:104061646-104198251	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
9	nsv566023	chr14:104061646-104198251	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs745079	ZFYVE21	cis	lymphoblastoid	seeQTL
rs745079	KLC1	cis	parietal	SCAN
rs745079	ZFYVE21	Cis_1M	lymphoblastoid	RTeQTL
rs745079	BAG5	cis	cerebellum	SCAN
rs745079	NA	cis	multi-tissue	Pritchard
rs745079	BRF1	cis	parietal	SCAN
rs745079	BAG5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104060200-104090200	Weak transcription	Pancreas	Pancrea
2	chr14:104064800-104073600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:104071800-104074400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:104072000-104073800	Enhancers	Placenta	Placenta
5	chr14:104072800-104074400	Enhancers	Fetal Thymus	thymus
6	chr14:104072800-104074800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:104072800-104075000	Enhancers	Primary hematopoietic stem cells	blood
8	chr14:104073000-104073800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr14:104073000-104073800	Bivalent Enhancer	Fetal Stomach	stomach
10	chr14:104073000-104074200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr14:104073000-104074400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:104073200-104073600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:104073200-104073600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
14	chr14:104073200-104073600	Enhancers	Primary B cells from peripheral blood	blood
15	chr14:104073200-104073600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr14:104073200-104073600	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr14:104073200-104073800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:104073200-104073800	Bivalent Enhancer	Fetal Intestine Small	intestine
19	chr14:104073200-104073800	Enhancers	HSMMtube	muscle
20	chr14:104073200-104073800	Flanking Active TSS	NH-A	brain
21	chr14:104073200-104073800	Enhancers	NHLF	lung
22	chr14:104073200-104074000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:104073200-104074000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:104073200-104074000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:104073200-104074000	Flanking Active TSS	Fetal Muscle Trunk	muscle
26	chr14:104073200-104074000	Enhancers	HMEC	breast
27	chr14:104073200-104074200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:104073200-104074200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
29	chr14:104073200-104074200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr14:104073200-104074200	Enhancers	Liver	Liver
31	chr14:104073200-104074200	Flanking Active TSS	Colonic Mucosa	Colon
32	chr14:104073200-104074200	Enhancers	Fetal Heart	heart
33	chr14:104073200-104074200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr14:104073200-104074200	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr14:104073200-104074200	Flanking Active TSS	GM12878-XiMat	blood
36	chr14:104073200-104074400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:104073200-104074400	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr14:104073200-104074400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr14:104073200-104074400	Enhancers	Small Intestine	intestine
40	chr14:104073200-104074600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr14:104073200-104074600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
42	chr14:104073200-104074600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
43	chr14:104073200-104074800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:104073200-104074800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr14:104073200-104074800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr14:104073200-104074800	Flanking Active TSS	Dnd41	blood
47	chr14:104073200-104075000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:104073200-104075000	Bivalent Enhancer	Fetal Intestine Large	intestine
49	chr14:104073200-104075200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr14:104073400-104073600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links