Variant report

Variant	rs549709720
Chromosome Location	chr7:101461560-101461561
allele	C/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	SMC3	chr7:101456662-101462457	SK-N-SH	brain:	n/a	chr7:101459988-101459995
2	EP300	chr7:101461164-101461662	Hela-S3	cervix:	n/a	n/a
3	ARID3A	chr7:101461170-101462030	K562	blood:	n/a	n/a
4	FOS	chr7:101461186-101461568	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr7:101461151-101461931	MCF10A-Er-Src	breast:	n/a	n/a
6	ARID3A	chr7:101461092-101462192	HepG2	liver:	n/a	n/a
7	STAT3	chr7:101461188-101461648	MCF10A-Er-Src	breast:	n/a	n/a
8	EP300	chr7:101461129-101461681	GM12878	blood:	n/a	n/a
9	CTCF	chr7:101459816-101461885	SK-N-SH	brain:	n/a	chr7:101459943-101459956
10	IRF1	chr7:101461011-101462158	K562	blood:	n/a	chr7:101461870-101461884
11	MAZ	chr7:101458070-101461933	IMR90	lung:	n/a	n/a
12	SIN3A	chr7:101461486-101461674	H1-hESC	embryonic stem cell:	n/a	n/a
13	STAT3	chr7:101461125-101461588	Hela-S3	cervix:	n/a	n/a
14	CUX1	chr7:101461052-101461571	K562	blood:	n/a	n/a
15	TBL1XR1	chr7:101461020-101461566	K562	blood:	n/a	n/a
16	CHD1	chr7:101459801-101462372	IMR90	lung:	n/a	chr7:101460415-101460425
17	STAT3	chr7:101461218-101461645	MCF10A-Er-Src	breast:	n/a	n/a
18	MAFK	chr7:101461152-101461579	K562	blood:	n/a	n/a
19	RAD21	chr7:101460383-101461581	IMR90	lung:	n/a	chr7:101460527-101460540 chr7:101460541-101460554

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:149222882..149224744-chr7:101459055..101461575,2	MCF-7	breast:
2	chr7:101456865..101462678-chr7:101466062..101470276,9	MCF-7	breast:

Variant related genes	Relation type
CUX1	TF binding region
ENSG00000206737	Chromatin interaction
ENSG00000259294	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv831079	chr7:101273495-101466776	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1021797	chr7:101342353-101466957	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv539046	chr7:101342353-101466957	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv824243	chr7:101445202-101479651	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv824244	chr7:101452564-101464341	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
10	nsv824245	chr7:101455132-101461951	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
11	nsv521041	chr7:101458144-101496391	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	esv3388804	chr7:101458232-101461980	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
13	esv3338355	chr7:101458232-101462630	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
14	esv3424172	chr7:101459457-101462005	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101457000-101461600	Active TSS	Brain Angular Gyrus	brain
2	chr7:101457000-101461800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:101457000-101462000	Active TSS	Fetal Intestine Large	intestine
4	chr7:101457200-101461600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr7:101457200-101461800	Active TSS	Right Atrium	heart
6	chr7:101457200-101462000	Active TSS	NHDF-Ad	bronchial
7	chr7:101457600-101461800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:101458200-101461600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:101458400-101461600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr7:101458400-101461600	Active TSS	GM12878-XiMat	blood
11	chr7:101458400-101461800	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr7:101458600-101461600	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr7:101458600-101461600	Active TSS	HepG2	liver
14	chr7:101458600-101461800	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr7:101460200-101461600	Active TSS	Placenta Amnion	Placenta Amnion
16	chr7:101460200-101462200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr7:101460400-101462000	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr7:101460600-101462200	Flanking Active TSS	Dnd41	blood
19	chr7:101460800-101462200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr7:101460800-101462200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:101460800-101462200	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr7:101460800-101462200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:101461000-101461600	Flanking Active TSS	Liver	Liver
24	chr7:101461000-101461600	Flanking Active TSS	Fetal Brain Female	brain
25	chr7:101461000-101461600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr7:101461000-101461800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:101461000-101461800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:101461000-101461800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr7:101461000-101461800	Flanking Active TSS	Fetal Lung	lung
30	chr7:101461000-101461800	Flanking Active TSS	Osteobl	bone
31	chr7:101461000-101462000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr7:101461000-101462000	Active TSS	Fetal Kidney	kidney
33	chr7:101461000-101462000	Flanking Active TSS	Fetal Stomach	stomach
34	chr7:101461000-101462000	Flanking Active TSS	Thymus	Thymus
35	chr7:101461000-101462400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr7:101461000-101462400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:101461000-101462400	Enhancers	Fetal Brain Male	brain
38	chr7:101461000-101462600	Flanking Active TSS	K562	blood
39	chr7:101461000-101462800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr7:101461200-101461600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
41	chr7:101461200-101461600	Enhancers	Primary B cells from peripheral blood	blood
42	chr7:101461200-101461600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr7:101461200-101461600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:101461200-101461600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr7:101461200-101461600	Enhancers	Brain Cingulate Gyrus	brain
46	chr7:101461200-101461600	Active TSS	Placenta	Placenta
47	chr7:101461200-101461800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr7:101461200-101461800	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr7:101461200-101461800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr7:101461200-101461800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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