Variant report

Variant	rs554715956
Chromosome Location	chr5:179920445-179920446
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr5:179920368-179920484	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr5:179920149-179920486	MCF10A-Er-Src	breast:	n/a	n/a
3	FOSL2	chr5:179920122-179920500	HepG2	liver:	n/a	n/a
4	ARID3A	chr5:179920256-179920489	HepG2	liver:	n/a	n/a
5	FOS	chr5:179920235-179920460	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr5:179920408-179920599	HepG2	liver:	n/a	n/a
7	MAZ	chr5:179920425-179920489	K562	blood:	n/a	n/a
8	MAFK	chr5:179920303-179920466	HepG2	liver:	n/a	n/a
9	FOS	chr5:179920134-179920471	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr5:179920378-179920573	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179920260..179922999-chr5:180038598..180040134,2	MCF-7	breast:
2	chr5:179720972..179723069-chr5:179918796..179921248,2	MCF-7	breast:
3	chr5:179920138..179923580-chr5:179954774..179958751,3	MCF-7	breast:
4	chr5:179778332..179781251-chr5:179920436..179923318,3	MCF-7	breast:
5	chr5:179919075..179921338-chr5:180210769..180213087,2	MCF-7	breast:
6	chr5:179718755..179721306-chr5:179919977..179922949,4	MCF-7	breast:

No data

Variant related genes	Relation type
CNOT6	TF binding region
ENSG00000050748	Chromatin interaction
ENSG00000113300	Chromatin interaction
ENSG00000131459	Chromatin interaction
ENSG00000248367	Chromatin interaction
ENSG00000037280	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
4	nsv1026417	chr5:179721376-180291360	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1031836	chr5:179742033-180676122	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
6	nsv537984	chr5:179742033-180676122	Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
7	nsv949199	chr5:179743553-180696889	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
8	nsv1023537	chr5:179791679-179982822	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv537985	chr5:179791679-179982822	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv1019519	chr5:179866730-179959408	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers 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	17 gene(s)	inside rSNPs	diseases
11	nsv830564	chr5:179867394-180010096	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	esv3356496	chr5:179920371-179922919	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179915000-179921000	Weak transcription	Aorta	Aorta
2	chr5:179917400-179920800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:179918400-179921000	Weak transcription	Lung	lung
4	chr5:179918600-179921000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:179918600-179921000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:179918800-179921600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:179919000-179920600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:179919000-179920800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:179919000-179921000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:179919000-179921000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr5:179919400-179920600	Enhancers	Placenta	Placenta
12	chr5:179919400-179920800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr5:179919600-179920600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr5:179919800-179920600	Enhancers	HepG2	liver
15	chr5:179919800-179920800	Enhancers	Fetal Thymus	thymus
16	chr5:179919800-179921400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:179920000-179920600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr5:179920000-179920800	Enhancers	Primary B cells from peripheral blood	blood
19	chr5:179920000-179920800	Enhancers	Primary T cells fromperipheralblood	blood
20	chr5:179920000-179920800	Flanking Active TSS	Dnd41	blood
21	chr5:179920000-179921200	Enhancers	Fetal Brain Male	brain
22	chr5:179920200-179920600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:179920200-179920600	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr5:179920200-179920600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr5:179920200-179920600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:179920200-179920600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:179920200-179920600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:179920200-179920600	Enhancers	Hela-S3	cervix
29	chr5:179920200-179920600	Enhancers	Osteobl	bone
30	chr5:179920200-179920800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr5:179920200-179920800	Enhancers	Fetal Muscle Trunk	muscle
32	chr5:179920200-179920800	Enhancers	HMEC	breast
33	chr5:179920200-179921000	Enhancers	Primary B cells from cord blood	blood
34	chr5:179920200-179921000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr5:179920200-179921000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr5:179920200-179921000	Enhancers	Pancreas	Pancrea
37	chr5:179920200-179922200	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr5:179920400-179920600	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr5:179920400-179920600	Enhancers	Primary T cells from cord blood	blood
40	chr5:179920400-179920600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr5:179920400-179920600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr5:179920400-179920600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:179920400-179920600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:179920400-179920600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr5:179920400-179920600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:179920400-179920600	Enhancers	Adipose Nuclei	Adipose
47	chr5:179920400-179920600	Active TSS	Brain Angular Gyrus	brain
48	chr5:179920400-179920600	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr5:179920400-179920600	Enhancers	Brain Cingulate Gyrus	brain
50	chr5:179920400-179920600	Enhancers	Fetal Brain Female	brain

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