Variant report

Variant	rs71561764
Chromosome Location	chr7:112093503-112093504
allele	A/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	POLR2A	chr7:112093193-112094096	HepG2	liver:	n/a	n/a
2	MEF2A	chr7:112093322-112093932	K562	blood:	n/a	chr7:112093900-112093917 chr7:112093716-112093731
3	STAT3	chr7:112093481-112093862	MCF10A-Er-Src	breast:	n/a	n/a
4	MEF2A	chr7:112093468-112094003	K562	blood:	n/a	chr7:112093900-112093917 chr7:112093716-112093731 chr7:112093966-112093981
5	POLR2A	chr7:112093376-112094174	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:112088943..112098465-chr7:112111106..112127214,31	K562	blood:
2	chr7:112089471..112094125-chr7:112120459..112123941,5	MCF-7	breast:
3	chr7:112088811..112094041-chr7:112100770..112110657,18	MCF-7	breast:
4	chr7:112089375..112094700-chr7:112096975..112100569,9	MCF-7	breast:
5	chr7:112059129..112067568-chr7:112088387..112093703,18	K562	blood:
6	chr7:111806034..111807822-chr7:112092535..112095230,2	K562	blood:
7	chr7:112058803..112077296-chr7:112087519..112096464,50	MCF-7	breast:

Variant related genes	Relation type
IFRD1	TF binding region
ENSG00000006652	Chromatin interaction
ENSG00000181016	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats 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 target site	105 gene(s)	inside rSNPs	diseases
2	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	esv1801262	chr7:112071795-112104179	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1030033	chr7:112092709-112140430	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112089600-112094000	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr7:112089600-112094200	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr7:112089600-112094200	Active TSS	Psoas Muscle	Psoas
4	chr7:112089800-112093600	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr7:112089800-112093600	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr7:112089800-112094400	Active TSS	Right Ventricle	heart
7	chr7:112089800-112094800	Active TSS	GM12878-XiMat	blood
8	chr7:112090000-112094600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:112090200-112094200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:112091400-112094000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr7:112091400-112094600	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr7:112091600-112093600	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr7:112091600-112094400	Active TSS	Right Atrium	heart
14	chr7:112091800-112093600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr7:112091800-112094000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:112091800-112094200	Flanking Active TSS	Dnd41	blood
17	chr7:112091800-112094600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:112092000-112094400	Enhancers	Fetal Heart	heart
19	chr7:112092000-112094600	Enhancers	Small Intestine	intestine
20	chr7:112092200-112093800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:112092200-112093800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr7:112092200-112094000	Flanking Active TSS	HUVEC	blood vessel
23	chr7:112092200-112094200	Flanking Active TSS	Osteobl	bone
24	chr7:112092400-112094200	Flanking Active TSS	NH-A	brain
25	chr7:112092400-112094400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr7:112092400-112094600	Enhancers	Fetal Brain Male	brain
27	chr7:112092600-112093600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr7:112092600-112093600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:112092600-112093600	Active TSS	K562	blood
30	chr7:112092600-112093800	Flanking Active TSS	NHDF-Ad	bronchial
31	chr7:112092600-112094000	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr7:112092600-112094000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:112092600-112094200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:112092600-112094200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:112092600-112094200	Enhancers	Fetal Lung	lung
36	chr7:112092600-112094400	Weak transcription	Lung	lung
37	chr7:112092600-112094600	Enhancers	Brain Angular Gyrus	brain
38	chr7:112092600-112094600	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr7:112092600-112095400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr7:112092600-112095800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr7:112092600-112095800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr7:112092600-112095800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr7:112092600-112095800	Weak transcription	Placenta	Placenta
44	chr7:112092600-112098800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr7:112092600-112099000	Weak transcription	Spleen	Spleen
46	chr7:112092600-112099800	Weak transcription	Esophagus	oesophagus
47	chr7:112092600-112099800	Weak transcription	Gastric	stomach
48	chr7:112092600-112102400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr7:112092600-112109800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:112092600-112121800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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