Variant report

Variant	rs858675
Chromosome Location	chr17:45244596-45244597
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	chr17:45240711..45243126-chr17:45243872..45245467,2	MCF-7	breast:
2	chr17:45244585..45246962-chr17:45247878..45249835,2	K562	blood:

Variant related genes	Relation type
ENSG00000004897	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1102461	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11079756	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11079762	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11079763	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1634269	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs221596	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs221603	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs221604	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs221605	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs221607	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2678693	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4968308	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6504743	0.94[ASN][1000 genomes]
rs6504744	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7208288	0.89[ASN][1000 genomes]
rs8073936	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs858671	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs858680	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9747171	0.97[ASN][1000 genomes]
rs9894365	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv833467	chr17:45063935-45252624	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1796833	chr17:45212898-45244822	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv3325368	chr17:45235562-45247410	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3393378	chr17:45235569-45249387	Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv5729	chr17:45235587-45249403	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers 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	7 gene(s)	inside rSNPs	diseases
7	esv3384942	chr17:45235611-45244927	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv3431533	chr17:45235611-45247332	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3364168	chr17:45235631-45247302	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv3422702	chr17:45235632-45247304	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45234600-45249200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr17:45234600-45249400	Strong transcription	A549	lung
3	chr17:45235200-45247200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr17:45235800-45244800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr17:45235800-45245000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr17:45235800-45245000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr17:45235800-45245000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr17:45235800-45245200	Weak transcription	Fetal Kidney	kidney
9	chr17:45235800-45246400	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr17:45235800-45246400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr17:45235800-45247200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr17:45235800-45247200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr17:45235800-45247200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr17:45235800-45247200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr17:45235800-45247200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr17:45235800-45247200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr17:45235800-45247200	Weak transcription	Brain Substantia Nigra	brain
18	chr17:45235800-45247200	Weak transcription	Fetal Brain Male	brain
19	chr17:45235800-45247200	Strong transcription	Fetal Thymus	thymus
20	chr17:45235800-45247200	Strong transcription	Dnd41	blood
21	chr17:45235800-45247200	Strong transcription	HepG2	liver
22	chr17:45235800-45247400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr17:45235800-45247400	Weak transcription	Psoas Muscle	Psoas
24	chr17:45235800-45247800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr17:45235800-45249200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr17:45235800-45249200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr17:45235800-45249200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr17:45235800-45249200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr17:45235800-45249200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr17:45235800-45249200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr17:45235800-45249200	Weak transcription	Stomach Mucosa	stomach
32	chr17:45235800-45249200	Weak transcription	HSMMtube	muscle
33	chr17:45236800-45246400	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr17:45237200-45245000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr17:45237200-45245000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr17:45237200-45245000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr17:45237200-45245200	Weak transcription	Esophagus	oesophagus
38	chr17:45237200-45247200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr17:45237400-45245000	Weak transcription	Gastric	stomach
40	chr17:45237400-45245000	Weak transcription	Ovary	ovary
41	chr17:45237400-45245000	Weak transcription	Spleen	Spleen
42	chr17:45237400-45245200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr17:45237400-45247200	Weak transcription	Colonic Mucosa	Colon
44	chr17:45237400-45249200	Weak transcription	Aorta	Aorta
45	chr17:45237400-45249200	Weak transcription	Small Intestine	intestine
46	chr17:45237800-45246400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr17:45237800-45247600	Strong transcription	K562	blood
48	chr17:45238000-45245000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr17:45238000-45245000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr17:45238000-45247200	Strong transcription	HSMM	muscle

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