Variant report

Variant	rs8068968
Chromosome Location	chr17:16394013-16394014
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:16385737..16387459-chr17:16392390..16394414,2	MCF-7	breast:
2	chr17:16340606..16343390-chr17:16393092..16395708,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175061	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs57540884	1.00[AMR][1000 genomes]
rs57939654	1.00[AMR][1000 genomes]
rs7215443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7224408	1.00[AMR][1000 genomes]
rs73287076	1.00[AMR][1000 genomes]
rs73287082	1.00[AMR][1000 genomes]
rs73287088	1.00[AMR][1000 genomes]
rs73287090	1.00[AMR][1000 genomes]
rs8075170	1.00[AMR][1000 genomes]
rs8079037	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
6	nsv1061463	chr17:16245878-16490691	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
7	nsv543216	chr17:16245878-16490691	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
8	nsv428668	chr17:16265210-16455285	Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases
9	nsv1063941	chr17:16357086-16424098	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv574487	chr17:16389498-16395496	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv1794587	chr17:16389498-16395680	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16389800-16394200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr17:16390400-16394200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:16390400-16394200	Enhancers	Brain Germinal Matrix	brain
4	chr17:16390400-16394200	Weak transcription	Esophagus	oesophagus
5	chr17:16390400-16394400	Weak transcription	Liver	Liver
6	chr17:16390400-16394400	Enhancers	Brain Cingulate Gyrus	brain
7	chr17:16390600-16394200	Weak transcription	Brain Substantia Nigra	brain
8	chr17:16390600-16394200	Weak transcription	Colon Smooth Muscle	Colon
9	chr17:16390600-16394400	Weak transcription	Lung	lung
10	chr17:16390600-16394600	Weak transcription	Left Ventricle	heart
11	chr17:16390600-16394800	Weak transcription	Psoas Muscle	Psoas
12	chr17:16391200-16394200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr17:16391200-16394200	Weak transcription	Right Ventricle	heart
14	chr17:16391800-16394400	Weak transcription	Small Intestine	intestine
15	chr17:16392000-16394200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr17:16392000-16394600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr17:16392200-16394200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr17:16392200-16394600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
19	chr17:16392200-16394600	Weak transcription	Fetal Kidney	kidney
20	chr17:16392200-16395000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr17:16392400-16394200	Weak transcription	Adipose Nuclei	Adipose
22	chr17:16392400-16394200	Weak transcription	Gastric	stomach
23	chr17:16392400-16394400	Enhancers	Spleen	Spleen
24	chr17:16392400-16394600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr17:16392800-16394200	Weak transcription	Pancreas	Pancrea
26	chr17:16392800-16394200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr17:16393000-16394200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr17:16393000-16394200	Weak transcription	Ovary	ovary
29	chr17:16393400-16394400	Flanking Active TSS	Fetal Intestine Large	intestine
30	chr17:16393400-16394600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr17:16393600-16394200	Enhancers	Fetal Brain Male	brain
32	chr17:16393600-16394400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr17:16393600-16394400	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr17:16393600-16394600	Flanking Active TSS	Fetal Brain Female	brain
35	chr17:16393800-16394200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
36	chr17:16393800-16394200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr17:16393800-16394200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
38	chr17:16393800-16394200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
39	chr17:16393800-16394200	Bivalent/Poised TSS	Primary B cells from cord blood	blood
40	chr17:16393800-16394200	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr17:16393800-16394200	Active TSS	Duodenum Mucosa	Duodenum
42	chr17:16393800-16394200	Enhancers	Fetal Lung	lung
43	chr17:16393800-16394200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr17:16393800-16394200	Active TSS	Rectal Smooth Muscle	rectum
45	chr17:16393800-16394200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
46	chr17:16393800-16394400	Enhancers	Primary hematopoietic stem cells	blood
47	chr17:16393800-16394400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr17:16393800-16394400	Enhancers	Right Atrium	heart
49	chr17:16393800-16394600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr17:16393800-16394800	Enhancers	Fetal Heart	heart

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