Variant report

Variant	rs371423949
Chromosome Location	chr17:15555633-15555634
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr17:15553449-15555638	SK-N-SH	brain:	n/a	chr17:15555238-15555247 chr17:15555240-15555249

No.	Distal block	Cell Line	Cell type
1	chr17:15553842..15556755-chr17:15901183..15904132,3	MCF-7	breast:
2	chr17:15555196..15556875-chr17:15562176..15564992,2	K562	blood:
3	chr17:15553526..15556124-chr17:15902249..15904435,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251537	TF binding region
ENSG00000214941	Chromatin interaction
ENSG00000011295	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv1055677	chr17:15294011-15561130	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv1058286	chr17:15315763-15561130	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv543213	chr17:15315763-15561130	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv457695	chr17:15447364-15611495	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv574462	chr17:15447364-15611495	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv1067123	chr17:15482503-15557728	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv907704	chr17:15542933-15567196	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	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
12	nsv520426	chr17:15554561-15647723	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15552200-15564600	Weak transcription	HepG2	liver
2	chr17:15554600-15571200	Weak transcription	Liver	Liver
3	chr17:15555000-15556000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr17:15555000-15556200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr17:15555000-15558400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr17:15555000-15563200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr17:15555000-15563200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr17:15555000-15587000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr17:15555000-15587000	Weak transcription	Gastric	stomach
10	chr17:15555200-15556200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr17:15555200-15556600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr17:15555200-15556800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr17:15555200-15556800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr17:15555200-15557000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr17:15555200-15557400	Weak transcription	Ovary	ovary
16	chr17:15555200-15558000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr17:15555200-15558400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr17:15555200-15558400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr17:15555200-15558400	Weak transcription	Fetal Thymus	thymus
20	chr17:15555200-15559200	Weak transcription	Esophagus	oesophagus
21	chr17:15555200-15562200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr17:15555200-15562200	Weak transcription	Left Ventricle	heart
23	chr17:15555200-15562200	Weak transcription	Pancreas	Pancrea
24	chr17:15555200-15564400	Weak transcription	GM12878-XiMat	blood
25	chr17:15555200-15567000	Weak transcription	Lung	lung
26	chr17:15555200-15567200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr17:15555200-15587000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr17:15555400-15555800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr17:15555400-15555800	Enhancers	Primary hematopoietic stem cells	blood
30	chr17:15555400-15555800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr17:15555400-15556000	Weak transcription	Brain Germinal Matrix	brain
32	chr17:15555400-15556800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr17:15555400-15557200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr17:15555400-15557200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr17:15555400-15557400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr17:15555400-15557400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr17:15555400-15557400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr17:15555400-15557400	Weak transcription	Fetal Kidney	kidney
39	chr17:15555400-15557400	Weak transcription	Fetal Lung	lung
40	chr17:15555400-15557600	Weak transcription	Fetal Intestine Large	intestine
41	chr17:15555400-15557600	Weak transcription	Placenta	Placenta
42	chr17:15555400-15557800	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr17:15555400-15558200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr17:15555400-15558200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr17:15555400-15558200	Weak transcription	Stomach Mucosa	stomach
46	chr17:15555400-15558200	Weak transcription	HMEC	breast
47	chr17:15555400-15558200	Weak transcription	NHEK	skin
48	chr17:15555400-15559400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr17:15555400-15560400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr17:15555400-15560600	Weak transcription	Primary T cells from cord blood	blood

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