Variant report

Variant	rs552180962
Chromosome Location	chr8:124173931-124173932
allele	A/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124164274..124174107-chr8:124177179..124181294,15	K562	blood:
2	chr8:124171651..124174347-chr8:124191271..124192791,2	MCF-7	breast:
3	chr8:124169245..124176335-chr8:124192965..124197106,7	MCF-7	breast:
4	chr8:124168117..124171297-chr8:124171831..124175255,6	K562	blood:
5	chr8:124171432..124174128-chr8:124286899..124289260,2	MCF-7	breast:
6	chr8:124164381..124166664-chr8:124173510..124175947,2	K562	blood:
7	chr8:124171738..124174563-chr8:124175786..124180198,3	MCF-7	breast:
8	chr8:124171396..124176501-chr8:124228974..124234727,7	MCF-7	breast:
9	chr8:124173844..124174533-chr8:124232603..124233348,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000165156	Chromatin interaction
ENSG00000253258	Chromatin interaction
ENSG00000147689	Chromatin interaction
ENSG00000221461	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv429939	chr8:124027819-124180819	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1028933	chr8:124065484-124181718	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv521469	chr8:124172895-124177926	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124172400-124174000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr8:124172400-124174000	Active TSS	Brain Anterior Caudate	brain
3	chr8:124172600-124174000	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr8:124172600-124174000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr8:124172600-124174000	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr8:124172600-124174000	Active TSS	Osteobl	bone
7	chr8:124172800-124174000	Active TSS	Duodenum Mucosa	Duodenum
8	chr8:124172800-124174000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr8:124172800-124174000	Active TSS	HepG2	liver
10	chr8:124172800-124174000	Active TSS	Monocytes-CD14+_RO01746	blood
11	chr8:124173000-124174000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:124173400-124174000	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr8:124173600-124174000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
14	chr8:124173600-124174000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr8:124173600-124174000	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr8:124173600-124174000	Active TSS	Stomach Smooth Muscle	stomach
17	chr8:124173600-124176400	Weak transcription	Hela-S3	cervix
18	chr8:124173600-124176600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr8:124173600-124178400	Weak transcription	HMEC	breast
20	chr8:124173600-124178600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:124173800-124174000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:124173800-124174000	Active TSS	Primary T cells fromperipheralblood	blood
23	chr8:124173800-124174000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr8:124173800-124174000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:124173800-124174000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:124173800-124174000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:124173800-124174000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr8:124173800-124174000	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr8:124173800-124174000	Enhancers	Rectal Smooth Muscle	rectum
30	chr8:124173800-124174000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr8:124173800-124174000	Enhancers	HUVEC	blood vessel
32	chr8:124173800-124174600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:124173800-124176200	Weak transcription	Adipose Nuclei	Adipose
34	chr8:124173800-124177000	Weak transcription	Fetal Heart	heart
35	chr8:124173800-124177600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr8:124173800-124178400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:124173800-124178400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:124173800-124178400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:124173800-124178400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr8:124173800-124178400	Weak transcription	Brain Substantia Nigra	brain
41	chr8:124173800-124178400	Weak transcription	Fetal Intestine Large	intestine
42	chr8:124173800-124178400	Weak transcription	Placenta	Placenta
43	chr8:124173800-124178400	Weak transcription	Lung	lung
44	chr8:124173800-124178400	Weak transcription	Pancreas	Pancrea
45	chr8:124173800-124178400	Weak transcription	Right Atrium	heart
46	chr8:124173800-124178400	Weak transcription	NH-A	brain
47	chr8:124173800-124178600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr8:124173800-124178600	Weak transcription	Stomach Mucosa	stomach
49	chr8:124173800-124178600	Weak transcription	NHDF-Ad	bronchial
50	chr8:124173800-124179000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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