Variant report

Variant	rs16932514
Chromosome Location	chr8:67026393-67026394
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67023862..67029462-chr8:67339600..67346087,12	MCF-7	breast:
2	chr8:67024747..67027371-chr8:67038783..67042182,4	MCF-7	breast:
3	chr8:67026046..67028476-chr8:67029113..67032451,3	MCF-7	breast:
4	chr17:57861110..57863333-chr8:67026125..67028213,3	MCF-7	breast:
5	chr8:66939552..66941809-chr8:67025937..67028911,2	K562	blood:
6	chr8:67026208..67027713-chr8:67043472..67045571,2	MCF-7	breast:
7	chr8:67025749..67027394-chr8:67336888..67338431,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246145	Chromatin interaction
ENSG00000147576	Chromatin interaction
ENSG00000147573	Chromatin interaction
ENSG00000267637	Chromatin interaction
ENSG00000179041	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10092687	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10093091	0.81[AFR][1000 genomes]
rs10095931	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10101457	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10104916	0.83[AFR][1000 genomes]
rs10113208	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986216	0.93[AFR][1000 genomes]
rs11986805	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988053	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993015	1.00[ASN][1000 genomes]
rs12334408	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932544	1.00[ASN][1000 genomes]
rs2357669	1.00[ASN][1000 genomes]
rs28364018	1.00[ASN][1000 genomes]
rs4366069	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4495409	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4496952	1.00[ASN][1000 genomes]
rs56409403	1.00[ASN][1000 genomes]
rs56981664	1.00[ASN][1000 genomes]
rs59142644	1.00[ASN][1000 genomes]
rs6472249	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472254	0.85[AFR][1000 genomes]
rs6988195	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998761	0.86[AFR][1000 genomes]
rs7008359	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73246516	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73246529	1.00[ASN][1000 genomes]
rs73246531	1.00[ASN][1000 genomes]
rs73246553	1.00[ASN][1000 genomes]
rs73691300	1.00[ASN][1000 genomes]
rs7818902	0.86[AFR][1000 genomes]
rs7822243	0.82[AFR][1000 genomes]
rs7826464	0.81[AFR][1000 genomes]
rs7830926	0.91[AFR][1000 genomes]
rs7834423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835948	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838500	0.86[AFR][1000 genomes]
rs7842707	0.82[AFR][1000 genomes]
rs7842761	0.81[AFR][1000 genomes]
rs7843605	0.86[AFR][1000 genomes]
rs7845334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9694082	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr8:67024400-67027000	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr8:67024400-67027200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr8:67024400-67028000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr8:67024600-67026800	Active TSS	Brain Anterior Caudate	brain
5	chr8:67024600-67027000	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr8:67024600-67027000	Active TSS	Fetal Brain Male	brain
7	chr8:67024600-67027200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr8:67024600-67027200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr8:67024600-67027200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:67024600-67027400	Active TSS	H1 Cell Line	embryonic stem cell
11	chr8:67024600-67027400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:67024600-67027400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:67024600-67027400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:67024600-67027400	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr8:67024600-67027600	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr8:67024600-67027600	Active TSS	Fetal Brain Female	brain
17	chr8:67024800-67027000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:67024800-67027200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:67024800-67027200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:67024800-67027200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:67024800-67027200	Active TSS	Aorta	Aorta
22	chr8:67024800-67027200	Active TSS	Brain Cingulate Gyrus	brain
23	chr8:67024800-67027200	Active TSS	Brain Substantia Nigra	brain
24	chr8:67024800-67027200	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr8:67024800-67027200	Active TSS	Fetal Stomach	stomach
26	chr8:67024800-67027200	Active TSS	Psoas Muscle	Psoas
27	chr8:67024800-67027200	Active TSS	Thymus	Thymus
28	chr8:67024800-67027400	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr8:67024800-67027400	Active TSS	Ovary	ovary
30	chr8:67024800-67027400	Active TSS	Right Atrium	heart
31	chr8:67024800-67027600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:67024800-67027600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:67024800-67027600	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr8:67024800-67027600	Active TSS	Fetal Lung	lung
35	chr8:67024800-67028000	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr8:67024800-67028000	Active TSS	Fetal Kidney	kidney
37	chr8:67025000-67026600	Active TSS	Primary T cells from cord blood	blood
38	chr8:67025000-67026800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:67025000-67027000	Active TSS	Fetal Heart	heart
40	chr8:67025000-67027000	Active TSS	Fetal Intestine Large	intestine
41	chr8:67025000-67027000	Active TSS	Fetal Intestine Small	intestine
42	chr8:67025000-67027000	Active TSS	Gastric	stomach
43	chr8:67025000-67027000	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr8:67025000-67027200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:67025000-67027200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:67025000-67027200	Active TSS	Esophagus	oesophagus
47	chr8:67025000-67027200	Active TSS	Lung	lung
48	chr8:67025000-67027400	Active TSS	Colon Smooth Muscle	Colon
49	chr8:67025000-67027400	Active TSS	HSMMtube	muscle
50	chr8:67025200-67026400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood

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