Variant report

Variant	rs543915391
Chromosome Location	chr8:124285810-124285811
allele	C/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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124285519..124287863-chr8:124381287..124384269,2	K562	blood:
2	chr8:124213969..124215797-chr8:124285287..124287584,2	K562	blood:
3	chr8:124281990..124286115-chr8:124406680..124410809,6	MCF-7	breast:
4	chr8:124273503..124275775-chr8:124284695..124287084,4	MCF-7	breast:
5	chr8:124261353..124265873-chr8:124284184..124288485,10	K562	blood:
6	chr8:124284678..124290463-chr8:124295890..124302199,8	K562	blood:
7	chr8:124283826..124290020-chr8:124406062..124410538,8	MCF-7	breast:
8	chr8:124285744..124288739-chr8:124298222..124302489,4	K562	blood:
9	chr8:124251855..124253716-chr8:124284789..124287618,4	MCF-7	breast:
10	chr8:124051710..124054469-chr8:124285028..124288032,4	MCF-7	breast:
11	chr8:124251904..124255350-chr8:124283702..124287510,7	MCF-7	breast:
12	chr8:124246568..124249527-chr8:124285493..124288576,4	K562	blood:
13	chr8:124283849..124288367-chr8:124426037..124430184,7	K562	blood:
14	chr8:124283886..124287542-chr8:124381015..124385016,4	MCF-7	breast:
15	chr8:124250772..124255194-chr8:124284813..124288648,11	K562	blood:
16	chr8:124285038..124289042-chr8:124427512..124430569,10	MCF-7	breast:
17	chr8:124273325..124275716-chr8:124284911..124287516,3	K562	blood:
18	chr8:124243496..124245966-chr8:124284944..124287102,2	MCF-7	breast:
19	chr8:124283412..124288800-chr8:124404176..124410687,11	K562	blood:
20	chr8:124283829..124288838-chr8:124426117..124430573,9	K562	blood:
21	chr8:124250772..124256316-chr8:124284832..124288905,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000156795	Chromatin interaction
ENSG00000156802	Chromatin interaction
ENSG00000189376	Chromatin interaction
ENSG00000222607	Chromatin interaction
ENSG00000165156	Chromatin interaction
ENSG00000136986	Chromatin interaction
ENSG00000204949	Chromatin interaction
ENSG00000243498	Chromatin interaction
ENSG00000253336	Chromatin interaction
ENSG00000156787	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	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
2	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
3	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
4	nsv831449	chr8:124276685-124471740	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	esv3405086	chr8:124285396-124287944	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124283200-124287800	Active TSS	GM12878-XiMat	blood
2	chr8:124283200-124288000	Active TSS	K562	blood
3	chr8:124284000-124286000	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr8:124284000-124286000	Active TSS	Brain Germinal Matrix	brain
5	chr8:124284000-124287400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:124284000-124288000	Active TSS	Ovary	ovary
7	chr8:124284000-124288200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:124284000-124288200	Active TSS	A549	lung
9	chr8:124284200-124287800	Active TSS	NHLF	lung
10	chr8:124284200-124288000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:124284200-124288200	Active TSS	Right Atrium	heart
12	chr8:124284200-124288200	Active TSS	Stomach Smooth Muscle	stomach
13	chr8:124284400-124286000	Flanking Active TSS	Fetal Stomach	stomach
14	chr8:124284400-124288000	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr8:124284400-124288200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:124284400-124288200	Active TSS	Rectal Smooth Muscle	rectum
17	chr8:124284400-124288200	Active TSS	NHDF-Ad	bronchial
18	chr8:124284600-124287200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:124284600-124288200	Active TSS	Aorta	Aorta
20	chr8:124284800-124286000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:124284800-124286000	Flanking Active TSS	Brain Substantia Nigra	brain
22	chr8:124284800-124287400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:124285000-124286000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr8:124285000-124286000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:124285000-124286000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:124285000-124286000	Flanking Active TSS	Thymus	Thymus
27	chr8:124285000-124287800	Active TSS	Esophagus	oesophagus
28	chr8:124285000-124288000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:124285000-124288000	Active TSS	Pancreas	Pancrea
30	chr8:124285000-124288000	Active TSS	Psoas Muscle	Psoas
31	chr8:124285000-124288200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:124285000-124288200	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr8:124285000-124288200	Active TSS	Fetal Intestine Large	intestine
34	chr8:124285000-124288200	Active TSS	Fetal Kidney	kidney
35	chr8:124285000-124288200	Active TSS	Left Ventricle	heart
36	chr8:124285000-124288200	Active TSS	Right Ventricle	heart
37	chr8:124285200-124286000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:124285200-124286000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr8:124285200-124286000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr8:124285200-124286000	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr8:124285200-124286000	Flanking Active TSS	Fetal Thymus	thymus
42	chr8:124285200-124286000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr8:124285200-124286200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
44	chr8:124285200-124286200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
45	chr8:124285200-124287600	Active TSS	Hela-S3	cervix
46	chr8:124285200-124287800	Active TSS	Placenta Amnion	Placenta Amnion
47	chr8:124285200-124288000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:124285200-124288200	Active TSS	Fetal Intestine Small	intestine
49	chr8:124285200-124288200	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr8:124285400-124286000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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