Variant report

Variant	rs540990770
Chromosome Location	chr5:68825450-68825451
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:68711082..68712894-chr5:68825364..68828331,2	MCF-7	breast:
2	chr5:68786843..68790127-chr5:68821932..68828319,7	MCF-7	breast:
3	chr5:68787211..68792044-chr5:68819088..68825852,9	MCF-7	breast:
4	chr5:68811437..68815245-chr5:68822688..68826346,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152939	Chromatin interaction
ENSG00000197822	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68805600-68826200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr5:68805600-68826600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:68806400-68826400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:68815400-68826600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:68815800-68831000	Weak transcription	HepG2	liver
6	chr5:68817200-68827200	Weak transcription	GM12878-XiMat	blood
7	chr5:68821800-68830800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:68822200-68826800	Weak transcription	Lung	lung
9	chr5:68822400-68829400	Weak transcription	Fetal Stomach	stomach
10	chr5:68822600-68826200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:68822800-68826400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:68822800-68826800	Weak transcription	Gastric	stomach
13	chr5:68822800-68828000	Weak transcription	Liver	Liver
14	chr5:68823600-68829200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:68823800-68826600	Weak transcription	Pancreas	Pancrea
16	chr5:68824000-68826000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr5:68824000-68827000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:68824000-68830600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr5:68824000-68855400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr5:68824200-68826600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr5:68824200-68829600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:68824400-68826000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr5:68824400-68826200	Weak transcription	Stomach Mucosa	stomach
24	chr5:68824400-68832400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr5:68824600-68825800	Strong transcription	Fetal Intestine Small	intestine
26	chr5:68824800-68825600	Strong transcription	Fetal Intestine Large	intestine
27	chr5:68824800-68826600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:68824800-68827000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:68825200-68826400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr5:68825200-68826800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr5:68825200-68827200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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