Variant report

Variant	rs13280952
Chromosome Location	chr8:96147567-96147568
allele	A/C
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96095758..96103345-chr8:96144049..96152228,17	MCF-7	breast:
2	chr8:96064790..96067980-chr8:96145061..96147723,3	MCF-7	breast:
3	chr17:57181515..57184136-chr8:96145563..96147575,2	MCF-7	breast:
4	chr8:95958803..95961918-chr8:96144805..96148535,6	MCF-7	breast:
5	chr8:96147448..96150087-chr8:96233164..96235373,2	MCF-7	breast:
6	chr8:96142341..96149648-chr8:96278644..96282772,12	MCF-7	breast:
7	chr8:96144909..96147734-chr8:96280323..96283069,4	K562	blood:
8	chr8:96066564..96073895-chr8:96144947..96151399,9	MCF-7	breast:
9	chr8:96107778..96115564-chr8:96144421..96149353,22	MCF-7	breast:
10	chr8:95651284..95653118-chr8:96147561..96150515,2	MCF-7	breast:
11	chr8:96060626..96064106-chr8:96144836..96147979,3	MCF-7	breast:
12	chr8:96108471..96116302-chr8:96144708..96150629,15	MCF-7	breast:
13	chr8:95906813..95909487-chr8:96144078..96147982,7	MCF-7	breast:
14	chr8:95962222..95963809-chr8:96146177..96149016,2	MCF-7	breast:
15	chr8:96064691..96066520-chr8:96146449..96149397,2	MCF-7	breast:
16	chr8:96035216..96038805-chr8:96144544..96148215,5	MCF-7	breast:
17	chr8:96146537..96149363-chr8:96168744..96170661,2	K562	blood:
18	chr8:95906309..95909766-chr8:96145150..96148465,4	K562	blood:
19	chr8:96098298..96100845-chr8:96147439..96148994,2	MCF-7	breast:
20	chr8:96082201..96091738-chr8:96143838..96148400,13	MCF-7	breast:
21	chr8:96093933..96096072-chr8:96147295..96149414,2	K562	blood:
22	chr8:95833539..95835392-chr8:96147377..96150373,2	MCF-7	breast:
23	chr8:96102685..96105358-chr8:96146565..96148952,2	K562	blood:
24	chr8:96033821..96037970-chr8:96145284..96149341,6	MCF-7	breast:
25	chr8:95908266..95910460-chr8:96145570..96147664,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164941	Chromatin interaction
ENSG00000253773	Chromatin interaction
ENSG00000164938	Chromatin interaction
ENSG00000261437	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000175305	Chromatin interaction
ENSG00000254248	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000200525	Chromatin interaction
ENSG00000245080	Chromatin interaction
ENSG00000253878	Chromatin interaction
ENSG00000108395	Chromatin interaction
ENSG00000224738	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10097300	0.81[EUR][1000 genomes]
rs10109868	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10504941	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13250117	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13263827	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13265626	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13275945	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13278942	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62524807	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv891207	chr8:96106037-96160914	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	esv3371147	chr8:96145201-96147749	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96145000-96147600	Active TSS	Brain Anterior Caudate	brain
2	chr8:96145000-96147800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr8:96145200-96147600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:96145200-96147600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:96145200-96147600	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr8:96145200-96147800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr8:96145200-96147800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:96145200-96148000	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr8:96145200-96148200	Active TSS	Psoas Muscle	Psoas
10	chr8:96145200-96148400	Active TSS	Colonic Mucosa	Colon
11	chr8:96145200-96148400	Active TSS	Fetal Kidney	kidney
12	chr8:96145200-96148400	Active TSS	Fetal Muscle Trunk	muscle
13	chr8:96145200-96150000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr8:96145400-96147600	Active TSS	Aorta	Aorta
15	chr8:96145400-96147600	Active TSS	Brain Substantia Nigra	brain
16	chr8:96145400-96147600	Active TSS	Left Ventricle	heart
17	chr8:96145400-96147600	Active TSS	HSMM	muscle
18	chr8:96145400-96147800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr8:96145400-96147800	Active TSS	Gastric	stomach
20	chr8:96145400-96147800	Active TSS	Ovary	ovary
21	chr8:96145400-96147800	Active TSS	Pancreas	Pancrea
22	chr8:96145400-96147800	Active TSS	Rectal Smooth Muscle	rectum
23	chr8:96145400-96147800	Active TSS	HSMMtube	muscle
24	chr8:96145400-96148000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:96145400-96148000	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr8:96145400-96148000	Active TSS	Placenta	Placenta
27	chr8:96145400-96148200	Active TSS	Thymus	Thymus
28	chr8:96145400-96148400	Active TSS	Lung	lung
29	chr8:96145400-96148400	Active TSS	Right Ventricle	heart
30	chr8:96145400-96148400	Active TSS	NHLF	lung
31	chr8:96145400-96149200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:96145600-96147600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:96145600-96147600	Active TSS	Muscle Satellite Cultured Cells	--
34	chr8:96145600-96147600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:96145600-96147600	Active TSS	Brain Hippocampus Middle	brain
36	chr8:96145600-96147600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr8:96145600-96147600	Active TSS	Fetal Intestine Large	intestine
38	chr8:96145600-96147600	Active TSS	Fetal Intestine Small	intestine
39	chr8:96145600-96147600	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr8:96145600-96147600	Active TSS	Stomach Smooth Muscle	stomach
41	chr8:96145600-96148600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:96145800-96147600	Active TSS	Primary monocytes fromperipheralblood	blood
43	chr8:96145800-96147600	Active TSS	Primary T cells fromperipheralblood	blood
44	chr8:96145800-96147600	Active TSS	Esophagus	oesophagus
45	chr8:96145800-96147600	Active TSS	Fetal Muscle Leg	muscle
46	chr8:96145800-96147600	Active TSS	Fetal Stomach	stomach
47	chr8:96145800-96147600	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr8:96145800-96147600	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr8:96145800-96147600	Active TSS	Hela-S3	cervix
50	chr8:96145800-96147600	Active TSS	NH-A	brain

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