Variant report

Variant	rs1366079
Chromosome Location	chr5:114971275-114971276
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:114970792..114971474-chr5:115166118..115167014,2	MCF-7	breast:
2	chr5:114970518..114971324-chr5:115403283..115404403,4	K562	blood:
3	chr5:114965121..114972183-chr5:115175398..115178697,8	MCF-7	breast:
4	chr5:114970607..114973250-chr5:114975290..114977621,2	K562	blood:
5	chr5:114969735..114972107-chr5:115165947..115167928,2	MCF-7	breast:
6	chr5:114970607..114974645-chr5:114975238..114977621,3	K562	blood:
7	chr5:114968611..114971610-chr5:115175867..115178509,3	MCF-7	breast:
8	chr5:114970889..114973875-chr5:114975413..114978406,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145782	Chromatin interaction
ENSG00000177879	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10069550	1.00[AMR][1000 genomes]
rs11952759	1.00[AMR][1000 genomes]
rs11960574	1.00[CEU][hapmap]
rs57685519	1.00[AMR][1000 genomes]
rs9326974	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3369833	chr5:114969653-114971951	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114962400-114971800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:114970400-114972000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr5:114970400-114972200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:114970400-114974000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:114970600-114971400	Enhancers	Dnd41	blood
6	chr5:114970600-114971600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:114970600-114971600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:114970600-114971800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:114970600-114972200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:114970600-114972400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:114970600-114972400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:114970600-114972400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:114970600-114973000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:114970600-114973400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:114970600-114973400	Weak transcription	NHDF-Ad	bronchial
16	chr5:114970600-114974400	Weak transcription	Liver	Liver
17	chr5:114970800-114972800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr5:114971200-114971400	Enhancers	HepG2	liver
19	chr5:114971200-114971600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:114971200-114971800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr5:114971200-114972800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr5:114971200-114972800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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