Variant report

Variant	rs543264457
Chromosome Location	chr5:68826822-68826823
allele	C/T
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	NR2F2	chr5:68826438-68826889	MCF-7	breast:	n/a	n/a
2	ZNF263	chr5:68826337-68827121	HEK293-T-REx	kidney:	n/a	n/a
3	MAFK	chr5:68826759-68826959	HepG2	liver:	n/a	n/a
4	ZNF217	chr5:68826483-68827024	MCF-7	breast:	n/a	n/a
5	MAFK	chr5:68826781-68826865	HepG2	liver:	n/a	n/a
6	GATA3	chr5:68826314-68827044	MCF-7	breast:	n/a	n/a
7	GATA3	chr5:68826308-68826876	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:68711082..68712894-chr5:68825364..68828331,2	MCF-7	breast:
2	chr5:68786843..68790127-chr5:68821932..68828319,7	MCF-7	breast:

Variant related genes	Relation type
RNU6-724P	TF binding region
ENSG00000152939	Chromatin interaction
ENSG00000197822	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023116	chr5:68744307-68867282	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1034024	chr5:68760271-69118123	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv1804444	chr5:68812530-68838432	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv1818827	chr5:68812530-68849594	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	esv1832055	chr5:68812530-68849594	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv1830977	chr5:68815501-68850642	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv514309	chr5:68821588-68854548	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	esv1810743	chr5:68822324-68923795	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	nsv916098	chr5:68824208-68902841	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	esv1805246	chr5:68825844-68923795	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68815800-68831000	Weak transcription	HepG2	liver
2	chr5:68817200-68827200	Weak transcription	GM12878-XiMat	blood
3	chr5:68821800-68830800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:68822400-68829400	Weak transcription	Fetal Stomach	stomach
5	chr5:68822800-68828000	Weak transcription	Liver	Liver
6	chr5:68823600-68829200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:68824000-68827000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:68824000-68830600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:68824000-68855400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:68824200-68829600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:68824400-68832400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:68824800-68827000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:68825200-68827200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:68825800-68827600	Genic enhancers	Fetal Intestine Small	intestine
15	chr5:68826000-68827200	Enhancers	Fetal Intestine Large	intestine
16	chr5:68826000-68827600	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr5:68826000-68828200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr5:68826200-68827000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:68826200-68827200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr5:68826200-68827800	Enhancers	Stomach Mucosa	stomach
21	chr5:68826400-68827200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr5:68826400-68827200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr5:68826400-68827800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:68826600-68827200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:68826600-68827400	Enhancers	Duodenum Mucosa	Duodenum
26	chr5:68826600-68827600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr5:68826600-68827800	Enhancers	Brain Anterior Caudate	brain
28	chr5:68826600-68827800	Enhancers	Brain Hippocampus Middle	brain
29	chr5:68826600-68828200	Enhancers	Pancreas	Pancrea
30	chr5:68826600-68830600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr5:68826800-68827000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr5:68826800-68827000	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr5:68826800-68827000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr5:68826800-68827200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:68826800-68827200	Enhancers	Lung	lung
36	chr5:68826800-68827200	Bivalent Enhancer	K562	blood
37	chr5:68826800-68828200	Enhancers	Gastric	stomach

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