Variant report

Variant	rs75816152
Chromosome Location	chr20:25160185-25160186
allele	A/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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:25046140..25046670-chr20:25159575..25160213,2	MCF-7	breast:
2	chr20:24972385..24977147-chr20:25157333..25161116,4	MCF-7	breast:
3	chr20:24975144..24976098-chr20:25159512..25160449,4	MCF-7	breast:
4	chr20:25119381..25120394-chr20:25159500..25160482,5	MCF-7	breast:
5	chr20:24980779..24981584-chr20:25159554..25160358,4	MCF-7	breast:
6	chr20:24974051..24974784-chr20:25159865..25160396,2	MCF-7	breast:
7	chr20:24972851..24974876-chr20:25158706..25161889,3	MCF-7	breast:
8	chr20:25140270..25141974-chr20:25158745..25161206,2	MCF-7	breast:
9	chr20:25119381..25120481-chr20:25159221..25160482,27	MCF-7	breast:
10	chr20:25062967..25063590-chr20:25159722..25160459,2	MCF-7	breast:
11	chr20:25046117..25046996-chr20:25159492..25160465,5	MCF-7	breast:
12	chr20:25159426..25161850-chr20:25175828..25177766,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000101474	Chromatin interaction
ENSG00000100987	Chromatin interaction
ENSG00000197586	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	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1056345	chr20:24819570-25168159	Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1055341	chr20:24848416-25302271	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv1063494	chr20:25067286-25468557	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv1063016	chr20:25067286-25475629	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv1065101	chr20:25068046-25466542	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer 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 target site	53 gene(s)	inside rSNPs	diseases
8	nsv544220	chr20:25068046-25466542	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
9	nsv531480	chr20:25070067-25472684	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
10	nsv585746	chr20:25071454-25470056	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
11	nsv1062742	chr20:25071454-25475629	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
12	nsv949389	chr20:25071454-25506582	Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS 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	54 gene(s)	inside rSNPs	diseases
13	nsv531481	chr20:25080583-25448944	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
14	nsv949479	chr20:25096494-25467359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
15	nsv1061109	chr20:25101715-25472685	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
16	nsv544221	chr20:25101715-25472685	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS 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	52 gene(s)	inside rSNPs	diseases
17	nsv1066667	chr20:25133066-25238976	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	nsv544222	chr20:25133066-25238976	Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	nsv3340	chr20:25160137-25190540	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25155800-25161600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:25157000-25160200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr20:25158000-25160600	Enhancers	NHEK	skin
4	chr20:25158000-25160800	Enhancers	HMEC	breast
5	chr20:25158200-25160200	Enhancers	Hela-S3	cervix
6	chr20:25158200-25160400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr20:25158200-25160400	Enhancers	NH-A	brain
8	chr20:25158200-25160400	Enhancers	Osteobl	bone
9	chr20:25158200-25160600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr20:25158200-25160800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr20:25158400-25160200	Enhancers	Colon Smooth Muscle	Colon
12	chr20:25158400-25160400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr20:25158600-25160400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr20:25158600-25160600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr20:25158600-25160600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr20:25158600-25160800	Enhancers	NHLF	lung
17	chr20:25158800-25160600	Enhancers	NHDF-Ad	bronchial
18	chr20:25158800-25160800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr20:25158800-25160800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr20:25159200-25160600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr20:25159200-25160800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr20:25159400-25160200	Enhancers	Adipose Nuclei	Adipose
23	chr20:25159400-25160200	Enhancers	Fetal Heart	heart
24	chr20:25159400-25160200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr20:25159400-25160800	Enhancers	HepG2	liver
26	chr20:25159600-25160400	Weak transcription	Esophagus	oesophagus
27	chr20:25159600-25160400	Weak transcription	Lung	lung
28	chr20:25159600-25160800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr20:25159600-25162000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr20:25159800-25160200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr20:25159800-25160400	Weak transcription	HSMM	muscle
32	chr20:25159800-25160800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr20:25160000-25160200	Enhancers	A549	lung

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