Variant report

Variant	rs13277714
Chromosome Location	chr8:117791528-117791529
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:117778754..117781084-chr8:117789380..117792038,3	K562	blood:
2	chr8:117785412..117790239-chr8:117790613..117794443,6	K562	blood:

Variant related genes	Relation type
ENSG00000147679	Chromatin interaction
ENSG00000147677	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10085939	0.82[EUR][1000 genomes]
rs10086419	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10088177	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10093551	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10096134	0.81[AMR][1000 genomes]
rs10112279	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10112604	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10505282	0.82[EUR][1000 genomes]
rs10505287	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11781970	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1317271	0.82[EUR][1000 genomes]
rs13258529	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13262725	0.81[AMR][1000 genomes]
rs13277958	0.81[AMR][1000 genomes]
rs13279543	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1347626	0.81[AMR][1000 genomes]
rs1436765	0.81[AMR][1000 genomes]
rs1436766	0.81[AMR][1000 genomes]
rs17811708	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3088140	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34038266	0.83[AFR][1000 genomes]
rs34519652	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35338453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35905748	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4256624	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4278180	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4289846	0.81[AMR][1000 genomes]
rs4289847	0.82[EUR][1000 genomes]
rs4335152	0.81[AMR][1000 genomes]
rs4335153	0.81[AMR][1000 genomes]
rs4422805	0.81[AMR][1000 genomes]
rs4472547	0.82[EUR][1000 genomes]
rs4601347	0.82[EUR][1000 genomes]
rs4623456	0.82[EUR][1000 genomes]
rs4629900	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55951040	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6983032	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6988841	0.88[EUR][1000 genomes]
rs7001938	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7007250	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7013617	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7464414	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7830860	0.81[AMR][1000 genomes]
rs7833054	0.82[EUR][1000 genomes]
rs7836549	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7843852	0.82[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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription 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	17 gene(s)	inside rSNPs	diseases
3	nsv1027259	chr8:117790928-117842055	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1034015	chr8:117790928-117843979	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117779800-117794600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr8:117780000-117795600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:117780400-117793200	Weak transcription	Brain Anterior Caudate	brain
4	chr8:117780400-117795200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:117780400-117796000	Weak transcription	Lung	lung
6	chr8:117780400-117798800	Weak transcription	HSMMtube	muscle
7	chr8:117780400-117799800	Weak transcription	Fetal Stomach	stomach
8	chr8:117780400-117830200	Weak transcription	Aorta	Aorta
9	chr8:117780600-117793400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr8:117780600-117796600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:117780600-117800600	Weak transcription	Colon Smooth Muscle	Colon
12	chr8:117780600-117800600	Weak transcription	Psoas Muscle	Psoas
13	chr8:117780600-117800800	Weak transcription	Brain Angular Gyrus	brain
14	chr8:117780600-117800800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:117780600-117800800	Weak transcription	Brain Substantia Nigra	brain
16	chr8:117780600-117802200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr8:117781600-117792600	Weak transcription	Brain Hippocampus Middle	brain
18	chr8:117781800-117793000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:117782000-117791600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:117782000-117814000	Weak transcription	Ovary	ovary
21	chr8:117783400-117793600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr8:117783400-117796800	Weak transcription	HMEC	breast
23	chr8:117783800-117793200	Weak transcription	Fetal Brain Female	brain
24	chr8:117784000-117795800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:117784000-117796000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:117784000-117800600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr8:117784200-117795000	Weak transcription	HepG2	liver
28	chr8:117784400-117791800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr8:117784400-117800800	Weak transcription	Fetal Lung	lung
30	chr8:117784600-117800400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:117784600-117804800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr8:117784800-117794800	Weak transcription	Fetal Muscle Leg	muscle
33	chr8:117784800-117798800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr8:117785400-117792000	Weak transcription	Osteobl	bone
35	chr8:117785400-117794600	Weak transcription	Fetal Kidney	kidney
36	chr8:117785400-117795200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr8:117785400-117795600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr8:117785400-117795800	Weak transcription	Fetal Brain Male	brain
39	chr8:117785400-117800600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr8:117785400-117800800	Weak transcription	Liver	Liver
41	chr8:117785400-117800800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr8:117785400-117801200	Weak transcription	Left Ventricle	heart
43	chr8:117785600-117792000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr8:117785600-117795000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr8:117785600-117796600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:117785600-117797200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:117785600-117798400	Weak transcription	GM12878-XiMat	blood
48	chr8:117785800-117792200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr8:117785800-117795400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:117785800-117796200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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