Variant report

Variant	rs2173017
Chromosome Location	chr5:167688311-167688312
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:167687788..167689812-chr5:167692711..167695181,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10447194	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10447203	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11134498	0.99[ASN][1000 genomes]
rs11740056	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11740804	1.00[ASN][1000 genomes]
rs11743769	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11743857	1.00[ASN][1000 genomes]
rs11743859	1.00[ASN][1000 genomes]
rs11747056	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11959012	0.89[CEU][hapmap];0.91[MEX][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12189266	0.91[ASW][hapmap];0.96[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13164502	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1960425	0.86[MEX][hapmap]
rs2112553	0.85[ASN][1000 genomes]
rs2112554	0.85[ASN][1000 genomes]
rs2337158	0.81[ASW][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs35200122	0.89[ASN][1000 genomes]
rs35960642	0.99[ASN][1000 genomes]
rs4976587	0.99[ASN][1000 genomes]
rs62385563	0.97[ASN][1000 genomes]
rs62385591	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6868169	0.91[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6888941	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6889555	0.97[ASN][1000 genomes]
rs72835080	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:44 , 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	chr5:167673000-167695600	Weak transcription	Brain Anterior Caudate	brain
4	chr5:167674400-167695800	Weak transcription	Fetal Lung	lung
5	chr5:167674600-167694400	Weak transcription	Fetal Brain Male	brain
6	chr5:167674800-167696000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:167675000-167695800	Weak transcription	Brain Angular Gyrus	brain
8	chr5:167675400-167696000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr5:167675400-167696000	Weak transcription	Fetal Brain Female	brain
10	chr5:167675800-167696000	Weak transcription	HSMM	muscle
11	chr5:167678800-167696000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:167678800-167696000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:167679000-167696000	Weak transcription	Brain Germinal Matrix	brain
14	chr5:167679200-167695600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:167679600-167694800	Weak transcription	HSMMtube	muscle
16	chr5:167680800-167692000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:167684000-167690400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:167686400-167689000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:167686400-167689200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:167686600-167689200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:167686600-167690800	Strong transcription	NHEK	skin
22	chr5:167686800-167689000	Enhancers	Fetal Intestine Large	intestine
23	chr5:167686800-167690800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:167687000-167688800	Enhancers	Colon Smooth Muscle	Colon
25	chr5:167687000-167688800	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr5:167687000-167688800	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr5:167687000-167689000	Enhancers	Fetal Intestine Small	intestine
28	chr5:167687200-167689200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:167687200-167689800	Strong transcription	Right Ventricle	heart
30	chr5:167687200-167692000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:167687400-167689000	Enhancers	Fetal Kidney	kidney
32	chr5:167687400-167689400	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr5:167687400-167690000	Strong transcription	Left Ventricle	heart
34	chr5:167687400-167695800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:167687600-167688800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:167687600-167688800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:167687800-167688600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr5:167687800-167688800	Enhancers	Placenta	Placenta
39	chr5:167687800-167688800	Enhancers	Ovary	ovary
40	chr5:167688000-167688400	Enhancers	Colonic Mucosa	Colon
41	chr5:167688000-167688800	Enhancers	Duodenum Mucosa	Duodenum
42	chr5:167688200-167688400	Enhancers	Right Atrium	heart
43	chr5:167688200-167688600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:167688200-167689600	Strong transcription	HMEC	breast

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