Variant report

Variant	rs573636341
Chromosome Location	chr7:112093920-112093921
allele	C/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	CEBPB	chr7:112093608-112093954	K562	blood:	n/a	chr7:112093796-112093807 chr7:112093796-112093809 chr7:112093798-112093809
2	POLR2A	chr7:112093193-112094096	HepG2	liver:	n/a	n/a
3	STAT3	chr7:112093581-112094108	MCF10A-Er-Src	breast:	n/a	n/a
4	E2F4	chr7:112093802-112094176	MCF10A-Er-Src	breast:	n/a	n/a
5	CEBPB	chr7:112093658-112093944	HepG2	liver:	n/a	chr7:112093796-112093807 chr7:112093796-112093809 chr7:112093798-112093809
6	MEF2A	chr7:112093322-112093932	K562	blood:	n/a	chr7:112093900-112093917 chr7:112093716-112093731
7	FOS	chr7:112093559-112093941	MCF10A-Er-Src	breast:	n/a	chr7:112093732-112093741
8	FOS	chr7:112093605-112094082	MCF10A-Er-Src	breast:	n/a	chr7:112093732-112093741 chr7:112094054-112094063 chr7:112094053-112094065 chr7:112094056-112094067
9	MYC	chr7:112093564-112093926	MCF10A-Er-Src	breast:	n/a	n/a
10	MEF2A	chr7:112093468-112094003	K562	blood:	n/a	chr7:112093900-112093917 chr7:112093716-112093731 chr7:112093966-112093981
11	JUN	chr7:112093580-112094079	HUVEC	blood vessel:	n/a	chr7:112093732-112093741 chr7:112094054-112094063 chr7:112094053-112094065 chr7:112094056-112094067
12	POLR2A	chr7:112093376-112094174	HepG2	liver:	n/a	n/a
13	JUN	chr7:112093519-112093920	K562	blood:	n/a	chr7:112093732-112093741
14	JUND	chr7:112093568-112094153	HepG2	liver:	n/a	chr7:112093732-112093741 chr7:112094054-112094063 chr7:112094053-112094065 chr7:112094056-112094067
15	STAT3	chr7:112093603-112093930	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr7:112093564-112093954	MCF10A-Er-Src	breast:	n/a	chr7:112093732-112093741
17	CEBPB	chr7:112093611-112093984	IMR90	lung:	n/a	chr7:112093796-112093807 chr7:112093796-112093809 chr7:112093798-112093809
18	JUND	chr7:112093544-112094032	K562	blood:	n/a	chr7:112093732-112093741
19	FOS	chr7:112093547-112093930	MCF10A-Er-Src	breast:	n/a	chr7:112093732-112093741
20	POLR2A	chr7:112093634-112094086	GM12878	blood:	n/a	n/a
21	CEBPB	chr7:112093559-112093973	Hela-S3	cervix:	n/a	chr7:112093796-112093807 chr7:112093796-112093809 chr7:112093798-112093809

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	chr7:111806034..111807822-chr7:112092535..112095230,2	K562	blood:
6	chr7:112058803..112077296-chr7:112087519..112096464,50	MCF-7	breast:

Variant related genes	Relation type
IFRD1	TF binding region
ENSG00000181016	Chromatin interaction
ENSG00000006652	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	chr7:112089800-112094400	Active TSS	Right Ventricle	heart
5	chr7:112089800-112094800	Active TSS	GM12878-XiMat	blood
6	chr7:112090000-112094600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:112090200-112094200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:112091400-112094000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr7:112091400-112094600	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr7:112091600-112094400	Active TSS	Right Atrium	heart
11	chr7:112091800-112094000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:112091800-112094200	Flanking Active TSS	Dnd41	blood
13	chr7:112091800-112094600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:112092000-112094400	Enhancers	Fetal Heart	heart
15	chr7:112092000-112094600	Enhancers	Small Intestine	intestine
16	chr7:112092200-112094000	Flanking Active TSS	HUVEC	blood vessel
17	chr7:112092200-112094200	Flanking Active TSS	Osteobl	bone
18	chr7:112092400-112094200	Flanking Active TSS	NH-A	brain
19	chr7:112092400-112094400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr7:112092400-112094600	Enhancers	Fetal Brain Male	brain
21	chr7:112092600-112094000	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr7:112092600-112094000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:112092600-112094200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:112092600-112094200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:112092600-112094200	Enhancers	Fetal Lung	lung
26	chr7:112092600-112094400	Weak transcription	Lung	lung
27	chr7:112092600-112094600	Enhancers	Brain Angular Gyrus	brain
28	chr7:112092600-112094600	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr7:112092600-112095400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr7:112092600-112095800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr7:112092600-112095800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr7:112092600-112095800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:112092600-112095800	Weak transcription	Placenta	Placenta
34	chr7:112092600-112098800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr7:112092600-112099000	Weak transcription	Spleen	Spleen
36	chr7:112092600-112099800	Weak transcription	Esophagus	oesophagus
37	chr7:112092600-112099800	Weak transcription	Gastric	stomach
38	chr7:112092600-112102400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr7:112092600-112109800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:112092600-112121800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr7:112092800-112094000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr7:112092800-112094000	Weak transcription	Fetal Muscle Leg	muscle
43	chr7:112092800-112094000	Flanking Active TSS	NHEK	skin
44	chr7:112092800-112094200	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr7:112092800-112094200	Weak transcription	Pancreas	Pancrea
46	chr7:112092800-112094400	Enhancers	Brain Substantia Nigra	brain
47	chr7:112092800-112094600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:112092800-112094600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr7:112092800-112094800	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr7:112092800-112095000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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