Variant report

Variant	rs8191942
Chromosome Location	chr6:160523255-160523256
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:160521225..160524051-chr6:160550117..160552981,2	K562	blood:
2	chr6:160147350..160149678-chr6:160522866..160525767,3	K562	blood:
3	chr6:160515194..160517994-chr6:160520028..160524639,5	K562	blood:
4	chr6:160490108..160492207-chr6:160522136..160524035,2	K562	blood:
5	chr6:160522898..160525661-chr6:160527102..160528911,2	K562	blood:
6	chr6:160518101..160519659-chr6:160522268..160524216,2	K562	blood:
7	chr6:160521216..160525547-chr6:160529052..160532768,4	K562	blood:
8	chr6:160522263..160525547-chr6:160528060..160532913,7	K562	blood:
9	chr6:160514066..160518040-chr6:160521154..160524639,8	K562	blood:
10	chr6:160391773..160394111-chr6:160522648..160524795,2	K562	blood:
11	chr6:160521991..160524984-chr6:160534412..160536685,2	K562	blood:
12	chr6:160388300..160392819-chr6:160520789..160524398,6	K562	blood:
13	chr6:160148035..160149678-chr6:160522319..160524366,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197081	Chromatin interaction
ENSG00000146457	Chromatin interaction
ENSG00000270949	Chromatin interaction
ENSG00000175003	Chromatin interaction
ENSG00000213073	Chromatin interaction
ENSG00000112096	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2297367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3737088	0.83[AMR][1000 genomes]
rs3798172	0.82[AMR][1000 genomes]
rs3798174	0.83[AMR][1000 genomes]
rs55984004	0.82[AMR][1000 genomes]
rs57874120	0.82[AMR][1000 genomes]
rs73025516	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73025543	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73025574	0.80[AMR][1000 genomes]

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	esv2758089	chr6:160372244-161234665	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2759484	chr6:160372244-161234665	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS 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	30 gene(s)	inside rSNPs	diseases
3	esv35098	chr6:160422589-161070870	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv2757197	chr6:160432331-161070870	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv818463	chr6:160435569-161025547	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160453000-160534600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:160455800-160532000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:160464600-160531800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:160465600-160530800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:160477200-160531200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:160477200-160531400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:160487600-160530800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr6:160490200-160531400	Strong transcription	Dnd41	blood
9	chr6:160491200-160531400	Strong transcription	Fetal Thymus	thymus
10	chr6:160492000-160528800	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr6:160501600-160527000	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr6:160504800-160529400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:160510200-160526800	Strong transcription	HSMMtube	muscle
14	chr6:160510200-160531000	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr6:160511000-160531600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:160511000-160531600	Strong transcription	Fetal Muscle Leg	muscle
17	chr6:160511400-160526400	Weak transcription	Hela-S3	cervix
18	chr6:160511400-160532600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr6:160512000-160532800	Weak transcription	A549	lung
20	chr6:160512000-160539200	Weak transcription	Stomach Mucosa	stomach
21	chr6:160512600-160529200	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr6:160512800-160527800	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr6:160513000-160524000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr6:160515400-160523600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr6:160515400-160525000	Weak transcription	Fetal Kidney	kidney
26	chr6:160515600-160523800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:160515600-160524000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:160515600-160527800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr6:160518000-160523400	Weak transcription	Brain Anterior Caudate	brain
30	chr6:160518000-160525400	Weak transcription	Aorta	Aorta
31	chr6:160518000-160526600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr6:160518000-160532200	Weak transcription	Fetal Brain Male	brain
33	chr6:160518200-160524000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr6:160518400-160523400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr6:160518400-160524800	Weak transcription	NHDF-Ad	bronchial
36	chr6:160519000-160523600	Weak transcription	Fetal Brain Female	brain
37	chr6:160519400-160523800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr6:160519600-160523800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr6:160519600-160524800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr6:160519800-160524000	Weak transcription	Fetal Lung	lung
41	chr6:160520200-160523600	Weak transcription	Colon Smooth Muscle	Colon
42	chr6:160520200-160523800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr6:160520200-160524000	Weak transcription	NH-A	brain
44	chr6:160520200-160528600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:160520600-160523800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr6:160520800-160523800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:160520800-160525200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:160521000-160524600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr6:160521600-160529600	Strong transcription	Rectal Smooth Muscle	rectum
50	chr6:160521800-160524600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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