Variant report

Variant	rs568470137
Chromosome Location	chr7:105161647-105161648
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	chr7:104653151..104655503-chr7:105160083..105164345,7	K562	blood:
2	chr7:105148185..105149870-chr7:105160014..105161672,2	K562	blood:
3	chr7:105143860..105147794-chr7:105158802..105162576,5	K562	blood:
4	chr7:105160261..105165362-chr7:105168599..105174293,22	MCF-7	breast:
5	chr7:105160711..105163604-chr7:105655467..105658687,3	K562	blood:
6	chr7:105160926..105162522-chr7:105329627..105332211,2	K562	blood:
7	chr7:105158727..105165017-chr7:105166972..105176993,56	K562	blood:
8	chr7:105159598..105163989-chr7:105219696..105223115,7	MCF-7	breast:
9	chr7:105083591..105086006-chr7:105160365..105162043,2	K562	blood:
10	chr7:105161082..105163079-chr7:105240360..105242686,2	K562	blood:
11	chr7:104652163..104655972-chr7:105160292..105163807,4	MCF-7	breast:
12	chr7:105160687..105164718-chr7:105170642..105174239,14	MCF-7	breast:
13	chr7:104653054..104655993-chr7:105161169..105164095,3	MCF-7	breast:
14	chr7:105161102..105162655-chr7:105181498..105183213,2	K562	blood:
15	chr17:33914164..33914765-chr7:105161584..105162384,2	Hela-S3	cervix:
16	chr7:104653151..104655346-chr7:105160083..105164134,5	K562	blood:
17	chr7:105148472..105150405-chr7:105160556..105162918,2	MCF-7	breast:
18	chr7:105027746..105030082-chr7:105160759..105163665,5	MCF-7	breast:
19	chr7:104772977..104775390-chr7:105160456..105162601,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000091127	Chromatin interaction
ENSG00000128536	Chromatin interaction
ENSG00000146776	Chromatin interaction
ENSG00000228393	Chromatin interaction
ENSG00000135250	Chromatin interaction
ENSG00000135249	Chromatin interaction
ENSG00000005483	Chromatin interaction
ENSG00000006125	Chromatin interaction
ENSG00000239569	Chromatin interaction
ENSG00000185055	Chromatin interaction
ENSG00000223886	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1023767	chr7:104931143-105190662	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv539049	chr7:104931143-105190662	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv1022065	chr7:104997315-105190662	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv888929	chr7:105012975-105163091	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv888930	chr7:105012975-105170476	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
10	nsv888931	chr7:105012975-105173974	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv888932	chr7:105012975-105179756	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv888933	chr7:105012975-105193051	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
13	nsv1023564	chr7:105018484-105182998	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
14	nsv464668	chr7:105088693-105208492	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers 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 target site	30 gene(s)	inside rSNPs	diseases
15	nsv608069	chr7:105088693-105208492	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
16	nsv888935	chr7:105110990-105193051	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
17	nsv888936	chr7:105119308-105193051	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
18	esv1793037	chr7:105137305-105167132	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
19	nsv8197	chr7:105160920-105166965	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105124400-105161800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr7:105141000-105161800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr7:105143000-105161800	Weak transcription	Thymus	Thymus
4	chr7:105146200-105161800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:105161200-105161800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr7:105161200-105161800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:105161200-105161800	Enhancers	Placenta	Placenta
8	chr7:105161200-105161800	Enhancers	Left Ventricle	heart
9	chr7:105161200-105161800	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr7:105161200-105161800	Enhancers	Spleen	Spleen
11	chr7:105161200-105161800	Flanking Active TSS	HepG2	liver
12	chr7:105161200-105162000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:105161200-105162000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:105161200-105162000	Flanking Active TSS	K562	blood
15	chr7:105161200-105162000	Flanking Active TSS	NHEK	skin
16	chr7:105161200-105162200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr7:105161200-105162200	Flanking Active TSS	Dnd41	blood
18	chr7:105161200-105162800	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr7:105161200-105162800	Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr7:105161200-105162800	Active TSS	GM12878-XiMat	blood
21	chr7:105161200-105162800	Active TSS	HSMM	muscle
22	chr7:105161200-105163000	Active TSS	H9 Cell Line	embryonic stem cell
23	chr7:105161200-105163000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:105161200-105163000	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr7:105161200-105163000	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr7:105161200-105163000	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr7:105161200-105163200	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr7:105161200-105163400	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr7:105161200-105163400	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr7:105161200-105163400	Active TSS	Brain Germinal Matrix	brain
31	chr7:105161200-105163400	Active TSS	A549	lung
32	chr7:105161400-105161800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:105161400-105161800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:105161400-105161800	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr7:105161400-105161800	Enhancers	Primary B cells from peripheral blood	blood
36	chr7:105161400-105161800	Enhancers	Primary T cells from cord blood	blood
37	chr7:105161400-105161800	Enhancers	Primary hematopoietic stem cells	blood
38	chr7:105161400-105161800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr7:105161400-105161800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr7:105161400-105161800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:105161400-105161800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:105161400-105161800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:105161400-105161800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:105161400-105161800	Enhancers	Fetal Heart	heart
45	chr7:105161400-105161800	Flanking Active TSS	Fetal Lung	lung
46	chr7:105161400-105161800	Flanking Active TSS	Fetal Stomach	stomach
47	chr7:105161400-105161800	Enhancers	Placenta Amnion	Placenta Amnion
48	chr7:105161400-105161800	Flanking Active TSS	HSMMtube	muscle
49	chr7:105161400-105161800	Flanking Active TSS	NH-A	brain
50	chr7:105161400-105162000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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