Variant report

Variant	rs4925168
Chromosome Location	chr17:18216860-18216861
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr17:18216816-18219173	SK-N-SH	brain:	n/a	n/a
2	MXI1	chr17:18216839-18219602	IMR90	lung:	n/a	n/a
3	USF2	chr17:18216841-18216949	Hela-S3	cervix:	n/a	n/a
4	SMC3	chr17:18216746-18218789	Hela-S3	cervix:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:18204042..18206073-chr17:18215565..18218215,2	MCF-7	breast:
2	chr17:18059834..18062065-chr17:18216789..18219409,3	MCF-7	breast:
3	chr17:18207672..18211933-chr17:18214098..18218432,6	MCF-7	breast:
4	chr17:18185665..18188160-chr17:18215584..18219242,3	MCF-7	breast:
5	chr17:18159194..18166260-chr17:18215929..18222740,16	MCF-7	breast:
6	chr17:18156705..18166530-chr17:18215131..18220177,19	MCF-7	breast:
7	chr17:18127269..18131326-chr17:18216439..18220320,6	MCF-7	breast:

No data

Variant related genes	Relation type
SMCR8	TF binding region
ENSG00000177427	Chromatin interaction
ENSG00000177302	Chromatin interaction
ENSG00000131899	Chromatin interaction
ENSG00000177731	Chromatin interaction
ENSG00000091536	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1001303	1.00[EUR][1000 genomes]
rs28650333	1.00[EUR][1000 genomes]
rs28684992	1.00[EUR][1000 genomes]
rs4924860	1.00[EUR][1000 genomes]
rs4925152	1.00[EUR][1000 genomes]
rs4925154	1.00[EUR][1000 genomes]
rs4925156	1.00[EUR][1000 genomes]
rs4925158	1.00[EUR][1000 genomes]
rs4925161	1.00[EUR][1000 genomes]
rs4925164	1.00[EUR][1000 genomes]
rs4925165	1.00[EUR][1000 genomes]
rs61741784	1.00[EUR][1000 genomes]
rs8071001	1.00[EUR][1000 genomes]
rs8072977	1.00[EUR][1000 genomes]
rs8075915	1.00[EUR][1000 genomes]
rs8078015	1.00[EUR][1000 genomes]
rs9890722	1.00[EUR][1000 genomes]
rs9891934	1.00[EUR][1000 genomes]
rs9893649	1.00[EUR][1000 genomes]
rs9900996	1.00[EUR][1000 genomes]
rs9903847	1.00[EUR][1000 genomes]
rs9904235	1.00[EUR][1000 genomes]
rs9905161	1.00[EUR][1000 genomes]
rs9905503	1.00[EUR][1000 genomes]
rs9907938	1.00[EUR][1000 genomes]
rs9911412	1.00[EUR][1000 genomes]
rs9916721	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
5	nsv833386	chr17:18170261-18332726	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv1057081	chr17:18171516-18256347	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv543247	chr17:18171516-18256347	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1062368	chr17:18180747-18259234	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv833387	chr17:18200081-18378155	Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	esv1806346	chr17:18200081-18446384	Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
11	esv1812661	chr17:18200081-18446384	Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
12	nsv428333	chr17:18200081-18446384	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
13	nsv427992	chr17:18200081-19192047	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18172200-18217400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:18184800-18217000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr17:18196800-18217000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:18206800-18217000	Weak transcription	Stomach Mucosa	stomach
5	chr17:18208800-18217000	Weak transcription	Right Ventricle	heart
6	chr17:18210200-18217000	Weak transcription	Psoas Muscle	Psoas
7	chr17:18210600-18217200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr17:18211200-18217000	Weak transcription	Ovary	ovary
9	chr17:18211200-18217200	Weak transcription	Aorta	Aorta
10	chr17:18215200-18217000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
11	chr17:18215400-18217000	Genic enhancers	Fetal Muscle Leg	muscle
12	chr17:18215400-18217000	Enhancers	Gastric	stomach
13	chr17:18215400-18217200	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr17:18215400-18217200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr17:18215400-18217400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr17:18215400-18217400	Transcr. at gene 5' and 3'	Dnd41	blood
17	chr17:18215600-18217000	Enhancers	Brain Angular Gyrus	brain
18	chr17:18215600-18217000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr17:18215600-18217200	Enhancers	Colon Smooth Muscle	Colon
20	chr17:18215600-18217200	Enhancers	Fetal Heart	heart
21	chr17:18215800-18217000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr17:18215800-18217000	Weak transcription	Colonic Mucosa	Colon
23	chr17:18215800-18217000	Weak transcription	Left Ventricle	heart
24	chr17:18215800-18217000	Weak transcription	Lung	lung
25	chr17:18215800-18217000	Weak transcription	Right Atrium	heart
26	chr17:18215800-18217000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr17:18216000-18217000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr17:18216000-18217000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr17:18216000-18217000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr17:18216000-18217000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr17:18216000-18217000	Active TSS	Fetal Brain Female	brain
32	chr17:18216000-18217000	Enhancers	Fetal Kidney	kidney
33	chr17:18216000-18217000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr17:18216000-18217200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr17:18216000-18217200	Enhancers	Primary T cells fromperipheralblood	blood
36	chr17:18216000-18217400	Flanking Active TSS	GM12878-XiMat	blood
37	chr17:18216200-18217000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr17:18216200-18217000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr17:18216200-18217000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr17:18216200-18217000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr17:18216200-18217000	Enhancers	Adipose Nuclei	Adipose
42	chr17:18216200-18217200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr17:18216200-18217200	Enhancers	Primary T cells from cord blood	blood
44	chr17:18216200-18217200	Enhancers	Liver	Liver
45	chr17:18216200-18217200	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr17:18216200-18217400	Enhancers	Spleen	Spleen
47	chr17:18216400-18217000	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr17:18216400-18217000	Enhancers	Brain Substantia Nigra	brain
49	chr17:18216400-18217200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr17:18216400-18217200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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