Variant report

Variant	rs7808547
Chromosome Location	chr7:83753167-83753168
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:83743073..83745524-chr7:83752305..83754687,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10226927	1.00[CHB][hapmap]
rs10243933	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs10488269	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17158484	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs17158496	1.00[CEU][hapmap]
rs17158607	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17158642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158647	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158675	1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17158680	1.00[JPT][hapmap]
rs17158685	1.00[JPT][hapmap]
rs1990046	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28433968	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28708904	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58382291	0.91[ASN][1000 genomes]
rs58741896	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59186128	0.91[ASN][1000 genomes]
rs6943044	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs6944814	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946101	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6966352	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs6975522	0.91[ASN][1000 genomes]
rs73177447	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177452	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177461	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177476	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177479	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73378880	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73378884	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73380806	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73380837	0.91[ASN][1000 genomes]
rs73380843	0.91[ASN][1000 genomes]
rs7786079	1.00[JPT][hapmap]
rs7787696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7804558	1.00[JPT][hapmap]

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	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv888629	chr7:83722691-83896025	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1017884	chr7:83724138-83972995	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538995	chr7:83724138-83972995	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv994067	chr7:83749438-83759598	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7808547	IER5	trans	brain	seeQTL
rs7808547	HSPA6	trans	brain	seeQTL

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83734400-83762800	Weak transcription	Fetal Muscle Leg	muscle
2	chr7:83741400-83753400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:83743000-83756400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:83743800-83753200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:83744400-83753400	Weak transcription	NHLF	lung
6	chr7:83745000-83769400	Weak transcription	Fetal Stomach	stomach
7	chr7:83746200-83753200	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:83747200-83753200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:83748000-83753200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:83748800-83753200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:83751800-83753200	Enhancers	NHDF-Ad	bronchial
12	chr7:83751800-83753400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:83751800-83753400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:83751800-83753800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:83752000-83753200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:83752000-83753400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr7:83752000-83753800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr7:83752000-83753800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr7:83752000-83753800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:83752000-83754000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:83752200-83753400	Enhancers	Brain Substantia Nigra	brain
22	chr7:83752200-83753800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:83752400-83753200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:83752400-83753200	Enhancers	Brain Hippocampus Middle	brain
25	chr7:83752400-83753200	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr7:83752400-83753200	Weak transcription	Osteobl	bone
27	chr7:83752400-83753400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:83752400-83753400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:83752400-83753800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr7:83752600-83753800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr7:83752600-83769600	Weak transcription	A549	lung
32	chr7:83752800-83753400	Enhancers	NH-A	brain
33	chr7:83752800-83753600	Enhancers	Fetal Brain Female	brain
34	chr7:83752800-83753800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr7:83753000-83753200	Enhancers	Brain Angular Gyrus	brain
36	chr7:83753000-83753200	Enhancers	Brain Anterior Caudate	brain
37	chr7:83753000-83753200	Enhancers	Brain Cingulate Gyrus	brain
38	chr7:83753000-83753200	Enhancers	HUVEC	blood vessel
39	chr7:83753000-83753800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:83753000-83753800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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