Variant report

Variant	rs17070043
Chromosome Location	chr5:167695777-167695778
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:167695446..167697955-chr5:167717142..167719890,3	MCF-7	breast:
2	chr5:167692911..167698949-chr5:167714034..167720280,9	MCF-7	breast:
3	chr5:167693194..167695905-chr5:167709836..167712679,2	MCF-7	breast:
4	chr5:167694757..167697092-chr5:167760205..167762595,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113645	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17070023	0.83[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[ASN][1000 genomes]
rs17070027	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17070030	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17070052	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17632540	1.00[CHB][hapmap];0.87[YRI][hapmap];1.00[ASN][1000 genomes]
rs55777046	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62385560	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62385562	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62385592	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62385593	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62385597	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62385598	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66482664	1.00[ASN][1000 genomes]
rs6868534	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6887837	0.83[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72835020	1.00[ASN][1000 genomes]
rs73389248	1.00[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	nsv534607	chr5:167661667-168454396	Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription 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 miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv5117	chr5:167666701-167711857	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv462512	chr5:167672105-167702041	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv600257	chr5:167672105-167702041	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv949154	chr5:167691208-168323234	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167646800-167695800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr5:167672200-167695800	Weak transcription	Fetal Heart	heart
3	chr5:167674400-167695800	Weak transcription	Fetal Lung	lung
4	chr5:167674800-167696000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:167675000-167695800	Weak transcription	Brain Angular Gyrus	brain
6	chr5:167675400-167696000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr5:167675400-167696000	Weak transcription	Fetal Brain Female	brain
8	chr5:167675800-167696000	Weak transcription	HSMM	muscle
9	chr5:167678800-167696000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:167678800-167696000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:167679000-167696000	Weak transcription	Brain Germinal Matrix	brain
12	chr5:167687400-167695800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:167688400-167696200	Weak transcription	Right Atrium	heart
14	chr5:167688800-167695800	Weak transcription	Liver	Liver
15	chr5:167688800-167695800	Weak transcription	Colon Smooth Muscle	Colon
16	chr5:167689000-167695800	Weak transcription	Fetal Intestine Large	intestine
17	chr5:167689600-167695800	Weak transcription	HMEC	breast
18	chr5:167689800-167696000	Weak transcription	Right Ventricle	heart
19	chr5:167689800-167696200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:167690000-167696000	Weak transcription	Left Ventricle	heart
21	chr5:167690800-167695800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:167690800-167695800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:167690800-167695800	Weak transcription	NHEK	skin
24	chr5:167692000-167696000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:167693000-167696000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:167693600-167696000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:167693600-167696200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:167695000-167695800	Enhancers	Hela-S3	cervix
29	chr5:167695200-167696200	Weak transcription	HSMMtube	muscle
30	chr5:167695400-167697400	Enhancers	Fetal Brain Male	brain
31	chr5:167695600-167695800	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr5:167695600-167695800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:167695600-167695800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:167695600-167696000	Enhancers	H1 Cell Line	embryonic stem cell
35	chr5:167695600-167696000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:167695600-167696000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
37	chr5:167695600-167696000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:167695600-167696000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr5:167695600-167696000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:167695600-167696000	Enhancers	Brain Anterior Caudate	brain
41	chr5:167695600-167696000	Bivalent Enhancer	GM12878-XiMat	blood
42	chr5:167695600-167696200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr5:167695600-167696200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr5:167695600-167696400	Enhancers	Esophagus	oesophagus
45	chr5:167695600-167696400	Flanking Bivalent TSS/Enh	HepG2	liver
46	chr5:167695600-167696800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links