Variant report

Variant	rs550358417
Chromosome Location	chr20:25309579-25309580
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:25307435..25309771-chr20:25337246..25338964,2	MCF-7	breast:
2	chr20:25290558..25292772-chr20:25309166..25311596,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100997	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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv833948	chr20:25231726-25410540	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS 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 target site	20 gene(s)	inside rSNPs	diseases
14	nsv482647	chr20:25308912-25481982	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25292000-25310000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr20:25292000-25325200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr20:25292000-25327400	Weak transcription	Aorta	Aorta
4	chr20:25292200-25309600	Weak transcription	Psoas Muscle	Psoas
5	chr20:25292200-25316600	Weak transcription	NHEK	skin
6	chr20:25292400-25311200	Weak transcription	K562	blood
7	chr20:25292400-25325200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr20:25292600-25351600	Weak transcription	NHDF-Ad	bronchial
9	chr20:25296600-25310200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr20:25296800-25316600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr20:25297800-25317800	Weak transcription	Fetal Brain Female	brain
12	chr20:25302200-25317200	Weak transcription	Esophagus	oesophagus
13	chr20:25302800-25309600	Weak transcription	Ovary	ovary
14	chr20:25302800-25324400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr20:25303400-25310200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr20:25304000-25309800	Weak transcription	Brain Germinal Matrix	brain
17	chr20:25304000-25310000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr20:25304000-25324800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr20:25304200-25310000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr20:25304200-25310200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr20:25304400-25309600	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr20:25304400-25309600	Weak transcription	Spleen	Spleen
23	chr20:25304400-25309800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr20:25304400-25316800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr20:25304400-25317200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr20:25304400-25319000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr20:25304400-25324200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr20:25304400-25327000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr20:25304600-25311400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr20:25304600-25317000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr20:25304600-25317200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr20:25304800-25309600	Weak transcription	Fetal Intestine Small	intestine
33	chr20:25304800-25317800	Weak transcription	Gastric	stomach
34	chr20:25304800-25318000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr20:25304800-25322800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr20:25305000-25317200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr20:25305000-25327000	Weak transcription	Primary T cells from cord blood	blood
38	chr20:25305000-25331800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr20:25305400-25309600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr20:25305400-25310000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr20:25305400-25319000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr20:25305400-25319800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr20:25305400-25320400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr20:25305400-25320800	Weak transcription	Primary B cells from peripheral blood	blood
45	chr20:25305400-25321000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr20:25305400-25321000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr20:25305400-25335000	Weak transcription	Primary B cells from cord blood	blood
48	chr20:25305800-25309800	Weak transcription	Fetal Stomach	stomach
49	chr20:25305800-25310000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr20:25306000-25310800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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