Variant report

Variant	rs565292395
Chromosome Location	chr5:73980391-73980392
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:73980292-73982327	K562	blood:	n/a	n/a
2	SMARCB1	chr5:73980307-73982245	Hela-S3	cervix:	n/a	chr5:73980984-73980993 chr5:73980985-73980994

No.	Distal block	Cell Line	Cell type
1	chr5:73979598..73982392-chr5:73983812..73990818,9	MCF-7	breast:
2	chr5:73979909..73982593-chr5:73987219..73990536,5	MCF-7	breast:
3	chr5:72857771..72859719-chr5:73979974..73981658,2	K562	blood:
4	chr5:73980002..73981869-chr5:74633426..74635131,2	K562	blood:
5	chr5:73978938..73982006-chr5:74061565..74064417,3	K562	blood:
6	chr5:73979743..73983565-chr5:73984545..73990071,12	K562	blood:
7	chr5:73979647..73982006-chr5:74061742..74064417,2	K562	blood:

Variant related genes	Relation type
HEXB	TF binding region
ENSG00000164331	Chromatin interaction
ENSG00000164346	Chromatin interaction
ENSG00000049860	Chromatin interaction
ENSG00000113161	Chromatin interaction
ENSG00000164347	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13844	chr5:73979961-73993853	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
2	nsv598652	chr5:73980182-73992881	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:73966800-73980600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:73969800-73980600	Weak transcription	HMEC	breast
3	chr5:73969800-73980600	Weak transcription	HSMM	muscle
4	chr5:73969800-73980800	Weak transcription	NHLF	lung
5	chr5:73973800-73980600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:73976000-73980600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:73976200-73980600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:73976200-73980600	Weak transcription	Osteobl	bone
9	chr5:73976200-73981000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:73976800-73980600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:73977400-73980800	Weak transcription	HSMMtube	muscle
12	chr5:73978400-73980600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:73978400-73980600	Enhancers	Fetal Intestine Large	intestine
14	chr5:73978600-73980600	Enhancers	Fetal Intestine Small	intestine
15	chr5:73979000-73980800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:73979000-73980800	Weak transcription	NH-A	brain
17	chr5:73979200-73980600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:73979200-73980600	Weak transcription	NHEK	skin
19	chr5:73979200-73980800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:73979400-73980600	Enhancers	Placenta	Placenta
21	chr5:73980000-73980400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:73980000-73980400	Bivalent Enhancer	HepG2	liver
23	chr5:73980000-73980400	Enhancers	K562	blood
24	chr5:73980000-73980600	Enhancers	Primary T cells fromperipheralblood	blood
25	chr5:73980000-73981600	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr5:73980200-73980400	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr5:73980200-73980400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:73980200-73980400	Enhancers	Gastric	stomach
29	chr5:73980200-73980400	Enhancers	Spleen	Spleen
30	chr5:73980200-73980400	Flanking Active TSS	A549	lung
31	chr5:73980200-73980600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr5:73980200-73980600	Enhancers	H9 Cell Line	embryonic stem cell
33	chr5:73980200-73980600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr5:73980200-73980600	Enhancers	Primary B cells from peripheral blood	blood
35	chr5:73980200-73980600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr5:73980200-73980600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr5:73980200-73980600	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr5:73980200-73980600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr5:73980200-73980600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:73980200-73980600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:73980200-73980600	Enhancers	Adipose Nuclei	Adipose
42	chr5:73980200-73980600	Enhancers	Dnd41	blood
43	chr5:73980200-73980600	Enhancers	Hela-S3	cervix
44	chr5:73980200-73980800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr5:73980200-73981200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:73980200-73981600	Active TSS	Primary T helper cells PMA-I stimulated	--

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