Variant report

Variant	rs4734672
Chromosome Location	chr8:103860525-103860526
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103845693..103863418-chr8:103873617..103879329,26	MCF-7	breast:
2	chr8:103817797..103819738-chr8:103859231..103861099,2	MCF-7	breast:
3	chr8:103850845..103853797-chr8:103858935..103862627,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253669	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000155096	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1019975	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505040	1.00[CHB][hapmap]
rs12544232	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12546193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12546520	0.81[CHD][hapmap];0.81[GIH][hapmap]
rs12546634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12546636	0.89[AMR][1000 genomes]
rs12547200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12547652	1.00[LWK][hapmap];0.84[MEX][hapmap]
rs12548786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13123	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1512351	1.00[LWK][hapmap]
rs1533182	1.00[LWK][hapmap]
rs17197341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17775390	0.89[AMR][1000 genomes]
rs17775450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17775510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2011262	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2304344	0.81[CHD][hapmap];0.81[GIH][hapmap]
rs2304348	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2304349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734066	0.89[AMR][1000 genomes]
rs4734670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4734674	1.00[LWK][hapmap];0.89[MEX][hapmap]
rs4734676	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4734678	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56854051	0.93[EUR][1000 genomes]
rs62522574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62522576	0.89[AMR][1000 genomes]
rs62522599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526533	0.87[EUR][1000 genomes]
rs62526534	0.85[EUR][1000 genomes]
rs6998032	1.00[CHB][hapmap];0.92[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs6999267	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999525	0.87[EUR][1000 genomes]
rs7016840	1.00[JPT][hapmap]
rs7016962	0.86[ASN][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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv465751	chr8:103817106-103894326	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv611822	chr8:103817106-103894326	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv891245	chr8:103838004-103907253	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4734672	AZIN1	cis	multi-tissue	Pritchard
rs4734672	COX6C	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103823400-103870600	Weak transcription	Stomach Mucosa	stomach
2	chr8:103826800-103871200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:103833400-103870800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:103834600-103867800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr8:103834600-103871200	Strong transcription	K562	blood
6	chr8:103835000-103868000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:103835000-103871000	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:103835200-103870200	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:103835200-103874200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:103835600-103867800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr8:103835800-103861800	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr8:103835800-103871000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:103836000-103867800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:103836000-103871000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:103836200-103868000	Strong transcription	HMEC	breast
16	chr8:103836200-103873000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:103836600-103870600	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr8:103837400-103866400	Strong transcription	NHEK	skin
19	chr8:103837600-103867000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr8:103837600-103870400	Strong transcription	Dnd41	blood
21	chr8:103839200-103870800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:103841000-103870200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr8:103843200-103868200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr8:103843400-103868000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:103845200-103866200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:103845600-103868600	Strong transcription	GM12878-XiMat	blood
27	chr8:103847400-103865600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr8:103848800-103869000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:103848800-103870600	Weak transcription	Fetal Heart	heart
30	chr8:103851600-103861800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:103852000-103868800	Weak transcription	Psoas Muscle	Psoas
32	chr8:103853800-103868000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr8:103855200-103870200	Weak transcription	Gastric	stomach
34	chr8:103855400-103860800	Weak transcription	Spleen	Spleen
35	chr8:103855400-103866200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:103855400-103870800	Strong transcription	HSMM	muscle
37	chr8:103855600-103861400	Weak transcription	Ovary	ovary
38	chr8:103855800-103860800	Weak transcription	Brain Germinal Matrix	brain
39	chr8:103855800-103861800	Weak transcription	Right Ventricle	heart
40	chr8:103855800-103862000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr8:103856000-103861200	Weak transcription	Aorta	Aorta
42	chr8:103856000-103871600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr8:103856000-103872800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr8:103856000-103874200	Weak transcription	Brain Substantia Nigra	brain
45	chr8:103856200-103862000	Weak transcription	Lung	lung
46	chr8:103856200-103873800	Weak transcription	Fetal Brain Male	brain
47	chr8:103856600-103865200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:103857200-103861000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr8:103857400-103864800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr8:103857600-103866200	Strong transcription	Primary hematopoietic stem cells	blood

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