Variant report

Variant	rs530756393
Chromosome Location	chr5:68828672-68828673
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:68791729..68794377-chr5:68827769..68829901,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 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
11	nsv598425	chr5:68827069-68904678	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
12	nsv881770	chr5:68827069-68915051	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
13	esv1808992	chr5:68827700-69181892	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
14	esv1798082	chr5:68828122-68851608	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
15	esv1818751	chr5:68828122-68851608	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
16	nsv881771	chr5:68828296-68904678	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
17	esv1792732	chr5:68828322-68849594	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	esv1797589	chr5:68828322-68849594	Strong transcription Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68815800-68831000	Weak transcription	HepG2	liver
2	chr5:68821800-68830800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:68822400-68829400	Weak transcription	Fetal Stomach	stomach
4	chr5:68823600-68829200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:68824000-68830600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:68824000-68855400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:68824200-68829600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:68824400-68832400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:68826600-68830600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr5:68827200-68829000	Weak transcription	Fetal Intestine Large	intestine
11	chr5:68827200-68829200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:68827200-68831000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:68827600-68829200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr5:68827600-68829600	Strong transcription	Fetal Intestine Small	intestine
15	chr5:68827600-68830200	Weak transcription	GM12878-XiMat	blood
16	chr5:68827600-68830800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:68827800-68828800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:68827800-68829000	Weak transcription	Stomach Mucosa	stomach
19	chr5:68827800-68830200	Weak transcription	Brain Anterior Caudate	brain
20	chr5:68828000-68829600	Strong transcription	Liver	Liver
21	chr5:68828200-68829200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:68828200-68830800	Weak transcription	Gastric	stomach
23	chr5:68828200-68840800	Weak transcription	Pancreas	Pancrea

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