Variant report

Variant	rs548442722
Chromosome Location	chr5:115517769-115517770
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115512590..115515778-chr5:115516651..115520258,3	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882736	chr5:115254723-115552945	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv882737	chr5:115263853-115552945	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv34146	chr5:115315944-115729919	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv527320	chr5:115382097-115573543	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv2755349	chr5:115384101-115733101	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1032199	chr5:115384131-115525738	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv1019972	chr5:115386860-115563533	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv537869	chr5:115386860-115563533	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv1018861	chr5:115397834-115563533	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv537870	chr5:115397834-115563533	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv882739	chr5:115471015-115552945	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1016891	chr5:115477740-115523778	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv537871	chr5:115477740-115523778	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv882740	chr5:115482794-115540041	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv882741	chr5:115484252-115552945	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv1032531	chr5:115489694-115583800	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv882742	chr5:115489770-115584159	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv1032338	chr5:115490345-115533527	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	nsv537872	chr5:115490345-115533527	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	nsv1034069	chr5:115490345-115563533	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	nsv537873	chr5:115490345-115563533	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv882743	chr5:115501792-115634127	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
23	nsv1023880	chr5:115508328-115563533	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	nsv537874	chr5:115508328-115563533	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
25	nsv1021381	chr5:115509949-115568193	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
26	nsv1023390	chr5:115514834-115537498	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
27	esv2757133	chr5:115515719-115543623	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
28	esv2759371	chr5:115515719-115543623	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
29	nsv524812	chr5:115517238-115584159	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115471600-115521600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr5:115481400-115536000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr5:115484400-115521400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr5:115489200-115526800	Weak transcription	Pancreas	Pancrea
5	chr5:115489800-115528600	Weak transcription	Ovary	ovary
6	chr5:115490000-115524400	Weak transcription	Left Ventricle	heart
7	chr5:115494600-115522200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr5:115495200-115521600	Weak transcription	Adipose Nuclei	Adipose
9	chr5:115495200-115524400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:115497400-115528800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:115499200-115527400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr5:115502400-115524400	Weak transcription	Fetal Intestine Large	intestine
13	chr5:115502400-115526400	Weak transcription	Lung	lung
14	chr5:115502800-115521600	Weak transcription	Primary T cells from cord blood	blood
15	chr5:115508200-115518400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:115508800-115529200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr5:115509200-115528400	Weak transcription	A549	lung
18	chr5:115509600-115533400	Weak transcription	HSMM	muscle
19	chr5:115510200-115521400	Weak transcription	Liver	Liver
20	chr5:115510200-115521600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr5:115510200-115522000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr5:115510400-115522000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:115510400-115524600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:115510400-115526200	Weak transcription	Brain Hippocampus Middle	brain
25	chr5:115510400-115526800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:115511800-115533200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:115512000-115529200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:115512200-115521600	Weak transcription	Primary B cells from cord blood	blood
29	chr5:115512200-115526800	Weak transcription	Fetal Intestine Small	intestine
30	chr5:115513000-115518600	Weak transcription	Psoas Muscle	Psoas
31	chr5:115515000-115521600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr5:115517000-115519000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr5:115517400-115518400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr5:115517400-115518600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr5:115517400-115526800	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr5:115517600-115517800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr5:115517600-115518000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr5:115517600-115518200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:115517600-115518600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr5:115517600-115518800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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