Variant report

Variant	rs72690455
Chromosome Location	chr8:87543280-87543281
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:87519554..87521172-chr8:87541977..87543792,2	K562	blood:
2	chr8:87519563..87521684-chr8:87541785..87544979,3	MCF-7	breast:
3	chr8:87537021..87539304-chr8:87542490..87544199,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176623	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10086188	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10089169	0.88[ASN][1000 genomes]
rs10089253	0.84[ASN][1000 genomes]
rs10090898	0.85[ASN][1000 genomes]
rs10090963	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10094332	1.00[ASN][1000 genomes]
rs10095589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10097866	0.84[ASN][1000 genomes]
rs10098365	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10100182	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10100247	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10100254	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10100368	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10106390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10107117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10107571	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10108586	0.84[ASN][1000 genomes]
rs10110096	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10481195	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10956871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774253	0.85[ASN][1000 genomes]
rs11774499	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776698	0.84[ASN][1000 genomes]
rs11783382	0.90[ASN][1000 genomes]
rs11984519	0.90[ASN][1000 genomes]
rs11986423	1.00[ASN][1000 genomes]
rs11994508	0.88[ASN][1000 genomes]
rs11997927	0.90[ASN][1000 genomes]
rs11998558	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16915375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16915389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28397606	0.90[ASN][1000 genomes]
rs28416254	0.90[ASN][1000 genomes]
rs28438974	1.00[ASN][1000 genomes]
rs28514445	1.00[ASN][1000 genomes]
rs28540009	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28613262	1.00[ASN][1000 genomes]
rs28687116	1.00[ASN][1000 genomes]
rs3087641	0.90[ASN][1000 genomes]
rs57638937	0.82[ASN][1000 genomes]
rs58837061	0.84[ASN][1000 genomes]
rs6651177	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6651268	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67332431	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6980476	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6992624	0.90[ASN][1000 genomes]
rs7018083	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72690416	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72690443	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72690445	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72690447	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72690457	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72690474	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73688856	0.84[ASN][1000 genomes]
rs73688857	0.88[ASN][1000 genomes]
rs73688858	0.88[ASN][1000 genomes]
rs73688859	0.81[ASN][1000 genomes]
rs73688862	0.88[ASN][1000 genomes]
rs7818436	0.90[ASN][1000 genomes]
rs7823951	0.97[ASN][1000 genomes]
rs7824873	1.00[ASN][1000 genomes]
rs7833201	0.97[ASN][1000 genomes]
rs7844014	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297913	0.90[ASN][1000 genomes]
rs9650128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650129	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv933966	chr8:87454655-87591558	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87527400-87568400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:87527600-87550200	Weak transcription	Aorta	Aorta
3	chr8:87527600-87562000	Weak transcription	Pancreas	Pancrea
4	chr8:87527600-87568200	Weak transcription	Gastric	stomach
5	chr8:87527600-87584000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:87527800-87543400	Weak transcription	K562	blood
7	chr8:87527800-87546200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:87527800-87546200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:87527800-87547400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:87527800-87560000	Weak transcription	HSMMtube	muscle
11	chr8:87528000-87550800	Weak transcription	Psoas Muscle	Psoas
12	chr8:87528000-87551400	Weak transcription	Right Ventricle	heart
13	chr8:87528000-87563800	Weak transcription	Hela-S3	cervix
14	chr8:87528000-87573600	Weak transcription	Stomach Mucosa	stomach
15	chr8:87528200-87543400	Weak transcription	Brain Angular Gyrus	brain
16	chr8:87528200-87543400	Weak transcription	Brain Anterior Caudate	brain
17	chr8:87528200-87543400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr8:87528200-87543400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr8:87528200-87544200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr8:87528200-87572000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:87528400-87543400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr8:87528400-87543400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr8:87528400-87543400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr8:87528400-87550400	Weak transcription	HepG2	liver
25	chr8:87528400-87560400	Weak transcription	Thymus	Thymus
26	chr8:87528600-87543400	Weak transcription	Brain Hippocampus Middle	brain
27	chr8:87528600-87543600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr8:87528600-87548600	Weak transcription	Fetal Brain Male	brain
29	chr8:87528600-87557200	Weak transcription	Small Intestine	intestine
30	chr8:87528600-87566000	Weak transcription	Spleen	Spleen
31	chr8:87529000-87543600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr8:87529400-87549000	Weak transcription	Brain Substantia Nigra	brain
33	chr8:87530800-87543400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr8:87535200-87543400	Weak transcription	Fetal Heart	heart
35	chr8:87535200-87543600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:87535400-87543600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:87535400-87544200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr8:87535600-87543400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr8:87535600-87544000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr8:87535600-87547800	Strong transcription	Fetal Muscle Trunk	muscle
41	chr8:87535800-87543400	Weak transcription	Dnd41	blood
42	chr8:87535800-87543400	Weak transcription	NHLF	lung
43	chr8:87535800-87548800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr8:87536000-87543400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:87536000-87543400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr8:87536000-87543400	Weak transcription	Fetal Lung	lung
47	chr8:87536000-87559400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr8:87536200-87543400	Weak transcription	Osteobl	bone
49	chr8:87536200-87543800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr8:87536200-87550000	Weak transcription	NH-A	brain

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