Variant report

Variant	rs79414243
Chromosome Location	chr17:17439888-17439889
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	chr17:17439547..17441948-chr17:17448069..17450989,2	MCF-7	breast:
2	chr17:17407803..17409915-chr17:17438402..17440835,2	K562	blood:

Variant related genes	Relation type
ENSG00000133027	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482648	chr17:17315268-17455442	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv907731	chr17:17358004-17504856	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv907735	chr17:17381764-17448589	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv907736	chr17:17381764-17465458	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv907743	chr17:17404586-17448589	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv907744	chr17:17404586-17504856	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv907746	chr17:17412032-17478917	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv907747	chr17:17412032-17504856	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
10	nsv907749	chr17:17417169-17448589	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv574526	chr17:17422608-17444369	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv470579	chr17:17424332-17493810	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
14	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
15	nsv907750	chr17:17439458-17460180	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17418200-17478000	Weak transcription	Primary T cells from cord blood	blood
2	chr17:17419600-17447000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr17:17424600-17460000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr17:17427200-17440600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr17:17432600-17441200	Weak transcription	Ovary	ovary
6	chr17:17432800-17442600	Weak transcription	Spleen	Spleen
7	chr17:17434800-17448600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr17:17435000-17440600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr17:17436600-17441000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr17:17436600-17441600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr17:17436800-17479200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr17:17438600-17442800	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr17:17438600-17444800	Enhancers	Fetal Heart	heart
14	chr17:17438800-17440200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr17:17438800-17442000	Enhancers	A549	lung
16	chr17:17438800-17445200	Enhancers	Liver	Liver
17	chr17:17438800-17450800	Enhancers	Fetal Muscle Leg	muscle
18	chr17:17439000-17440000	Enhancers	Colon Smooth Muscle	Colon
19	chr17:17439000-17440000	Enhancers	Fetal Brain Female	brain
20	chr17:17439000-17440000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr17:17439000-17440000	Enhancers	HSMMtube	muscle
22	chr17:17439000-17440200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr17:17439000-17440200	Enhancers	Psoas Muscle	Psoas
24	chr17:17439000-17440200	Enhancers	Rectal Smooth Muscle	rectum
25	chr17:17439000-17440200	Enhancers	Osteobl	bone
26	chr17:17439000-17440400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr17:17439000-17440600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr17:17439200-17440000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr17:17439200-17440000	Enhancers	Adipose Nuclei	Adipose
30	chr17:17439200-17440000	Enhancers	Brain Substantia Nigra	brain
31	chr17:17439200-17440000	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr17:17439200-17440000	Enhancers	NHDF-Ad	bronchial
33	chr17:17439200-17440200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr17:17439200-17440200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr17:17439200-17440600	Enhancers	Fetal Brain Male	brain
36	chr17:17439200-17440800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr17:17439200-17441200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr17:17439200-17441600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr17:17439200-17441600	Enhancers	Gastric	stomach
40	chr17:17439200-17441600	Enhancers	Left Ventricle	heart
41	chr17:17439200-17441600	Enhancers	Right Atrium	heart
42	chr17:17439200-17441600	Enhancers	Right Ventricle	heart
43	chr17:17439200-17444400	Enhancers	Pancreas	Pancrea
44	chr17:17439200-17444400	Enhancers	HepG2	liver
45	chr17:17439200-17444600	Enhancers	Stomach Mucosa	stomach
46	chr17:17439200-17446000	Enhancers	Fetal Muscle Trunk	muscle
47	chr17:17439400-17440000	Enhancers	NH-A	brain
48	chr17:17439400-17440200	Genic enhancers	Fetal Stomach	stomach
49	chr17:17439400-17440400	Enhancers	Lung	lung
50	chr17:17439400-17442400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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