Variant report

Variant	rs558863690
Chromosome Location	chr7:100486289-100486290
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100302488..100305264-chr7:100484983..100487146,3	K562	blood:
2	chr7:100485568..100489865-chr7:100727204..100729829,6	MCF-7	breast:
3	chr7:100486144..100489424-chr7:100805467..100808505,5	MCF-7	breast:
4	chr7:100024866..100028113-chr7:100485356..100489963,5	MCF-7	breast:
5	chr7:100269556..100272634-chr7:100485447..100488529,3	K562	blood:
6	chr7:100485751..100487913-chr7:100611034..100613104,2	K562	blood:
7	chr7:100486155..100488924-chr7:100732323..100735470,4	MCF-7	breast:
8	chr6:42749094..42751752-chr7:100485925..100488500,3	MCF-7	breast:
9	chr7:100447367..100452420-chr7:100484839..100489079,9	MCF-7	breast:
10	chr7:100223306..100225539-chr7:100484655..100487462,2	K562	blood:
11	chr7:100485984..100488072-chr7:100806477..100808899,2	K562	blood:
12	chr7:100448922..100451627-chr7:100483976..100487908,4	K562	blood:
13	chr7:100299982..100306646-chr7:100485585..100490991,8	MCF-7	breast:
14	chr7:100201842..100204261-chr7:100485824..100488204,2	MCF-7	breast:
15	chr7:100208465..100211590-chr7:100485559..100488810,4	MCF-7	breast:
16	chr7:100484134..100489082-chr7:100804986..100809404,8	MCF-7	breast:
17	chr7:100486083..100488238-chr7:100659648..100662388,2	MCF-7	breast:
18	chr7:100423550..100425060-chr7:100485976..100488045,2	K562	blood:
19	chr7:100423424..100426106-chr7:100484562..100490364,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236305	Chromatin interaction
ENSG00000169871	Chromatin interaction
ENSG00000106327	Chromatin interaction
ENSG00000106330	Chromatin interaction
ENSG00000128564	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000106333	Chromatin interaction
ENSG00000112624	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000205277	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000227053	Chromatin interaction
ENSG00000225946	Chromatin interaction
ENSG00000196411	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	nsv464647	chr7:100374087-100497131	Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv607965	chr7:100374087-100497131	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
9	nsv888799	chr7:100406144-100497131	Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS 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	89 gene(s)	inside rSNPs	diseases
10	nsv888801	chr7:100416250-100497131	Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
11	nsv464648	chr7:100422156-100518458	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
12	nsv607966	chr7:100422156-100518458	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
13	nsv831073	chr7:100425659-100544888	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
14	nsv888802	chr7:100484917-100495530	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
15	nsv607967	chr7:100486016-100487748	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	37 gene(s)	inside rSNPs	diseases
16	nsv607968	chr7:100486035-100492896	Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	39 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	chr7:100473600-100486600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:100479200-100486400	Strong transcription	Brain Inferior Temporal Lobe	brain
3	chr7:100482800-100486600	Genic enhancers	Primary monocytes fromperipheralblood	blood
4	chr7:100482800-100487200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:100483000-100486600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:100483600-100486400	Genic enhancers	Primary B cells from peripheral blood	blood
7	chr7:100483600-100486400	Genic enhancers	Pancreas	Pancrea
8	chr7:100483800-100486400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:100483800-100486800	Genic enhancers	Spleen	Spleen
10	chr7:100484000-100486400	Genic enhancers	Lung	lung
11	chr7:100484000-100486400	Genic enhancers	HUVEC	blood vessel
12	chr7:100484400-100486400	Genic enhancers	Fetal Thymus	thymus
13	chr7:100484400-100486600	Genic enhancers	Placenta	Placenta
14	chr7:100484600-100486600	Transcr. at gene 5' and 3'	Hela-S3	cervix
15	chr7:100484600-100486800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:100484600-100486800	Enhancers	Fetal Heart	heart
17	chr7:100484800-100486400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:100484800-100486400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:100484800-100486400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
20	chr7:100484800-100486400	Genic enhancers	Adipose Nuclei	Adipose
21	chr7:100484800-100486400	Genic enhancers	Brain Cingulate Gyrus	brain
22	chr7:100484800-100486400	Genic enhancers	Brain Hippocampus Middle	brain
23	chr7:100484800-100486400	Genic enhancers	Esophagus	oesophagus
24	chr7:100484800-100486400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
25	chr7:100484800-100486600	Genic enhancers	Fetal Lung	lung
26	chr7:100484800-100486800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
27	chr7:100484800-100487000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr7:100484800-100487000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
29	chr7:100484800-100487400	Enhancers	Stomach Mucosa	stomach
30	chr7:100484800-100488800	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr7:100485000-100486400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:100485000-100486400	Genic enhancers	Fetal Stomach	stomach
33	chr7:100485000-100486400	Genic enhancers	Gastric	stomach
34	chr7:100485000-100486400	Genic enhancers	Thymus	Thymus
35	chr7:100485000-100486600	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
36	chr7:100485000-100486600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
37	chr7:100485000-100486600	Transcr. at gene 5' and 3'	K562	blood
38	chr7:100485000-100486800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr7:100485000-100487000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
40	chr7:100485000-100487000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:100485200-100486400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:100485200-100486400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
43	chr7:100485200-100486400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr7:100485400-100486400	Genic enhancers	Primary T cells fromperipheralblood	blood
45	chr7:100485400-100486400	Genic enhancers	Primary hematopoietic stem cells	blood
46	chr7:100485400-100486400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:100485400-100486400	Genic enhancers	Colon Smooth Muscle	Colon
48	chr7:100485400-100486800	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
49	chr7:100485400-100487000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:100485600-100486400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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