Variant report

Variant	rs567093928
Chromosome Location	chr6:80715624-80715625
allele	A/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	E2F4	chr6:80713236-80716364	MCF10A-Er-Src	breast:	n/a	chr6:80713962-80713969 chr6:80715312-80715321 chr6:80713962-80713969 chr6:80714200-80714210 chr6:80713962-80713969 chr6:80715314-80715323

Variant related genes	Relation type
TTK	TF binding region

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	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv5370	chr6:80715351-80751740	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80713400-80715800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:80713400-80715800	Active TSS	A549	lung
3	chr6:80713400-80717200	Active TSS	Thymus	Thymus
4	chr6:80713600-80716000	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr6:80713600-80716000	Active TSS	NHLF	lung
6	chr6:80713800-80715800	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr6:80713800-80716600	Active TSS	Fetal Thymus	thymus
8	chr6:80714000-80715800	Active TSS	HMEC	breast
9	chr6:80714000-80716000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:80714000-80716000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:80714000-80716800	Active TSS	GM12878-XiMat	blood
12	chr6:80714800-80738800	Weak transcription	Small Intestine	intestine
13	chr6:80715000-80717400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr6:80715000-80718600	Weak transcription	Fetal Brain Male	brain
15	chr6:80715000-80730400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:80715000-80748000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr6:80715000-80752200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:80715000-80752400	Weak transcription	Placenta	Placenta
19	chr6:80715200-80715800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:80715200-80715800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:80715200-80715800	Transcr. at gene 5' and 3'	K562	blood
22	chr6:80715200-80716000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:80715200-80716000	Active TSS	NH-A	brain
24	chr6:80715200-80718400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr6:80715200-80718800	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr6:80715200-80721200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr6:80715200-80726000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:80715200-80727000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr6:80715200-80730800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:80715200-80734000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr6:80715200-80734400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:80715200-80739200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr6:80715200-80749600	Weak transcription	Fetal Intestine Small	intestine
34	chr6:80715200-80752000	Weak transcription	Primary B cells from cord blood	blood
35	chr6:80715200-80752200	Weak transcription	Primary T cells from cord blood	blood
36	chr6:80715400-80715800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:80715400-80715800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:80715400-80715800	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr6:80715400-80715800	Flanking Active TSS	NHDF-Ad	bronchial
40	chr6:80715400-80716000	Enhancers	Fetal Heart	heart
41	chr6:80715400-80717000	Transcr. at gene 5' and 3'	Dnd41	blood
42	chr6:80715400-80718000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:80715400-80721200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr6:80715400-80721200	Weak transcription	Fetal Kidney	kidney
45	chr6:80715400-80722600	Weak transcription	Fetal Intestine Large	intestine
46	chr6:80715400-80726000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr6:80715400-80727000	Weak transcription	Fetal Muscle Leg	muscle
48	chr6:80715400-80729400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr6:80715400-80742200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr6:80715400-80743200	Weak transcription	Brain Germinal Matrix	brain

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