Variant report

Variant	rs368426083
Chromosome Location	chr7:5607387-5607388
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	TEAD4	chr7:5607354-5607790	K562	blood:	n/a	n/a
2	ZNF263	chr7:5607352-5607687	HEK293-T-REx	kidney:	n/a	chr7:5607524-5607545 chr7:5607404-5607413
3	CBX3	chr7:5607364-5607872	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:5594823..5597043-chr7:5604963..5607865,2	MCF-7	breast:
2	chr7:5607347..5609764-chr7:5625302..5626880,2	MCF-7	breast:
3	chr7:5600360..5604967-chr7:5605162..5611387,11	MCF-7	breast:

Variant related genes	Relation type
ACTB	TF binding region
ENSG00000272719	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000228974	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	333 gene(s)	inside rSNPs	diseases
5	esv1820266	chr7:5332088-5665173	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
6	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
7	nsv887404	chr7:5402606-5667645	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
8	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
9	nsv887408	chr7:5432672-5667645	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised 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 miRNA target site	331 gene(s)	inside rSNPs	diseases
10	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
11	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
12	nsv887413	chr7:5521468-5607884	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	279 gene(s)	inside rSNPs	diseases
13	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
14	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
15	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
16	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
17	nsv887414	chr7:5584934-5667645	Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
18	nsv887415	chr7:5584934-5675305	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
19	nsv887416	chr7:5584934-5695259	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
20	esv13701	chr7:5607355-5611372	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5603200-5609000	Weak transcription	Fetal Heart	heart
2	chr7:5603400-5607400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:5603400-5607600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:5603400-5607600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:5603400-5607600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:5603400-5607600	Weak transcription	Primary T cells from cord blood	blood
7	chr7:5603400-5608600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:5603400-5608600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:5603400-5608800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:5603400-5608800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:5603400-5608800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:5603400-5608800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:5603400-5608800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr7:5603400-5608800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:5603400-5608800	Weak transcription	HMEC	breast
16	chr7:5603400-5609000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:5603400-5609000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:5603400-5609000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:5603400-5609000	Weak transcription	Liver	Liver
20	chr7:5603400-5609000	Weak transcription	Brain Angular Gyrus	brain
21	chr7:5603400-5609000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr7:5603400-5609000	Weak transcription	Left Ventricle	heart
23	chr7:5603400-5609000	Weak transcription	Ovary	ovary
24	chr7:5603400-5609000	Weak transcription	Psoas Muscle	Psoas
25	chr7:5603400-5609000	Weak transcription	Right Atrium	heart
26	chr7:5603400-5609000	Weak transcription	Spleen	Spleen
27	chr7:5603400-5609000	Weak transcription	HSMMtube	muscle
28	chr7:5603400-5609000	Weak transcription	NH-A	brain
29	chr7:5603400-5609000	Weak transcription	NHDF-Ad	bronchial
30	chr7:5603400-5609000	Weak transcription	NHLF	lung
31	chr7:5603600-5607400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr7:5603600-5607400	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr7:5603600-5607400	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr7:5603600-5607400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr7:5603600-5607400	Weak transcription	Fetal Thymus	thymus
36	chr7:5603600-5607400	Weak transcription	Dnd41	blood
37	chr7:5603600-5607600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr7:5603600-5607600	Weak transcription	Fetal Intestine Large	intestine
39	chr7:5603600-5608600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr7:5603600-5608600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:5603600-5608800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:5603600-5608800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr7:5603600-5608800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:5603600-5608800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr7:5603600-5608800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr7:5603600-5608800	Weak transcription	Adipose Nuclei	Adipose
47	chr7:5603600-5608800	Weak transcription	Brain Hippocampus Middle	brain
48	chr7:5603600-5608800	Weak transcription	Fetal Brain Male	brain
49	chr7:5603600-5608800	Weak transcription	Fetal Stomach	stomach
50	chr7:5603600-5608800	Weak transcription	Hela-S3	cervix

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