Variant report

Variant	rs548499088
Chromosome Location	chr5:179186892-179186893
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179186448..179188654-chr5:179189940..179191704,3	MCF-7	breast:
2	chr5:179159135..179161287-chr5:179183499..179187060,3	MCF-7	breast:
3	chr5:179182162..179184626-chr5:179184667..179187247,2	MCF-7	breast:
4	chr5:179185380..179186978-chr5:179232551..179234204,2	MCF-7	breast:
5	chr5:179185016..179191633-chr5:179218101..179224928,12	MCF-7	breast:
6	chr5:179179004..179180636-chr5:179185826..179187591,2	MCF-7	breast:
7	chr5:179185963..179187544-chr5:179278623..179281522,2	K562	blood:
8	chr5:179158546..179161718-chr5:179184592..179191275,7	MCF-7	breast:
9	chr5:179185938..179188308-chr5:179246767..179249708,4	MCF-7	breast:
10	chr5:179183542..179185375-chr5:179186834..179189139,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000161011	Chromatin interaction
ENSG00000161021	Chromatin interaction
ENSG00000213316	Chromatin interaction
ENSG00000161013	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
4	nsv469579	chr5:179184831-179360191	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
5	nsv883274	chr5:179186397-179310330	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179161800-179188800	Weak transcription	NHDF-Ad	bronchial
2	chr5:179162000-179190400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:179162600-179189000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:179165800-179188800	Weak transcription	Brain Germinal Matrix	brain
5	chr5:179167200-179188800	Weak transcription	NHEK	skin
6	chr5:179171800-179188800	Weak transcription	Colonic Mucosa	Colon
7	chr5:179174400-179192200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:179177000-179188800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:179177400-179187000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:179177800-179188800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr5:179178000-179187000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr5:179178000-179188600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:179178000-179188600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:179178000-179188800	Weak transcription	Osteobl	bone
15	chr5:179179000-179189200	Weak transcription	Fetal Brain Female	brain
16	chr5:179181600-179187000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:179182200-179188600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr5:179182200-179188600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:179182400-179187200	Weak transcription	Lung	lung
20	chr5:179182400-179187400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:179182400-179188600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:179182400-179188600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:179182400-179188800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:179182400-179188800	Weak transcription	Gastric	stomach
25	chr5:179182400-179188800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr5:179182600-179187000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr5:179182600-179187000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:179182600-179187200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr5:179182600-179188600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr5:179182600-179188600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr5:179182600-179188800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr5:179182600-179189000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:179182600-179189000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:179182600-179189400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr5:179182600-179192400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr5:179182800-179188800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr5:179183200-179192600	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr5:179184000-179188800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr5:179184200-179188800	Weak transcription	Fetal Intestine Large	intestine
40	chr5:179184600-179187000	Weak transcription	Ovary	ovary
41	chr5:179185200-179187000	Weak transcription	Liver	Liver
42	chr5:179185200-179188800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:179185400-179187400	Strong transcription	Fetal Stomach	stomach
44	chr5:179185600-179189800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr5:179185800-179187000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr5:179185800-179187600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr5:179185800-179187600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr5:179185800-179190000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr5:179185800-179190800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr5:179186000-179187400	Enhancers	Brain Hippocampus Middle	brain

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