Variant report

Variant	rs80250441
Chromosome Location	chr10:5818014-5818015
allele	A/G
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	POLR2A	chr10:5817730-5818029	GM12878	blood:	n/a	n/a
2	ELF1	chr10:5817661-5818016	GM12878	blood:	n/a	chr10:5817854-5817865
3	SPI1	chr10:5817727-5818040	HL-60	blood:	n/a	chr10:5817853-5817866 chr10:5817854-5817867
4	SPI1	chr10:5817680-5818053	GM12891	blood:	n/a	chr10:5817853-5817866 chr10:5817854-5817867
5	SPI1	chr10:5817612-5818087	GM12891	blood:	n/a	chr10:5817853-5817866 chr10:5817677-5817684 chr10:5817854-5817867
6	SPI1	chr10:5817594-5818123	HL-60	blood:	n/a	chr10:5817853-5817866 chr10:5817677-5817684 chr10:5817854-5817867
7	POLR2A	chr10:5817972-5818039	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr10:5817785-5818016	MCF-7	breast:	n/a	n/a
9	POLR2A	chr10:5817664-5818105	HL-60	blood:	n/a	n/a
10	CTCF	chr10:5817974-5818448	MCF-7	breast:	n/a	n/a
11	POLR2A	chr10:5817708-5818045	K562	blood:	n/a	n/a
12	CTCF	chr10:5817970-5818431	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:5816487..5819223-chr10:5854186..5856565,2	MCF-7	breast:
2	chr10:5815026..5819070-chr10:5852954..5857275,5	MCF-7	breast:

Variant related genes	Relation type
NRBF2P5	TF binding region
ENSG00000057608	Chromatin interaction
ENSG00000272764	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
5	nsv831775	chr10:5804335-6000849	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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 target site	34 gene(s)	inside rSNPs	diseases
6	nsv947730	chr10:5817688-5827238	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr10:5762600-5843400	Strong transcription	Dnd41	blood
2	chr10:5762800-5843000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr10:5768000-5849400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr10:5781400-5818600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:5796000-5822400	Strong transcription	Fetal Intestine Large	intestine
6	chr10:5797200-5819000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr10:5797400-5847400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr10:5798000-5818200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr10:5798000-5842800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr10:5798200-5843000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr10:5798600-5818400	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr10:5798600-5820200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr10:5798600-5842800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr10:5804800-5818200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr10:5805000-5843200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr10:5805200-5819000	Strong transcription	GM12878-XiMat	blood
17	chr10:5805600-5818200	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr10:5806000-5818200	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr10:5807400-5821800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr10:5808400-5826400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:5808800-5825800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr10:5809000-5824400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr10:5810400-5824800	Weak transcription	Ovary	ovary
24	chr10:5811800-5824400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr10:5812000-5823800	Weak transcription	Fetal Kidney	kidney
26	chr10:5812000-5824000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr10:5812400-5821600	Weak transcription	Brain Germinal Matrix	brain
28	chr10:5813000-5818600	Strong transcription	NHEK	skin
29	chr10:5813000-5818800	Strong transcription	HepG2	liver
30	chr10:5813000-5819200	Strong transcription	K562	blood
31	chr10:5813600-5818400	Strong transcription	Fetal Brain Female	brain
32	chr10:5813800-5818400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr10:5814600-5822600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr10:5814800-5819000	Strong transcription	A549	lung
35	chr10:5815400-5818600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr10:5816000-5820200	Strong transcription	Fetal Intestine Small	intestine
37	chr10:5816200-5818200	Genic enhancers	Left Ventricle	heart
38	chr10:5816200-5818400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr10:5816400-5818200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr10:5816400-5818400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr10:5816400-5818400	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr10:5816400-5818400	Strong transcription	Hela-S3	cervix
43	chr10:5816400-5818800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr10:5816400-5819000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr10:5816400-5819000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr10:5816400-5819200	Enhancers	Colon Smooth Muscle	Colon
47	chr10:5816600-5818400	Genic enhancers	Fetal Muscle Trunk	muscle
48	chr10:5816600-5818600	Strong transcription	HUVEC	blood vessel
49	chr10:5816600-5818800	Enhancers	Right Ventricle	heart
50	chr10:5816600-5819000	Genic enhancers	Primary B cells from peripheral blood	blood

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