Variant report

Variant	rs72680599
Chromosome Location	chr8:121631272-121631273
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121628159..121631762-chr8:121633780..121636360,3	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10089944	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10099784	0.99[ASN][1000 genomes]
rs10102980	0.99[ASN][1000 genomes]
rs10103010	0.99[ASN][1000 genomes]
rs10104248	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10104255	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10108821	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10109195	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10113166	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28415690	0.81[EUR][1000 genomes]
rs28561998	0.81[EUR][1000 genomes]
rs28716772	0.81[EUR][1000 genomes]
rs4259452	0.96[ASN][1000 genomes]
rs4329308	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4338145	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4448320	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4514023	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4514024	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4610796	0.93[ASN][1000 genomes]
rs55646138	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55704534	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57622256	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57854118	0.81[EUR][1000 genomes]
rs58181006	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58929354	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60307797	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61312574	0.81[EUR][1000 genomes]
rs6469936	0.81[EUR][1000 genomes]
rs6981454	0.81[EUR][1000 genomes]
rs7017780	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73708912	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812594	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7814782	0.99[ASN][1000 genomes]
rs7824154	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7824846	0.81[EUR][1000 genomes]
rs7827232	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7827807	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7835353	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7845469	0.84[EUR][1000 genomes];0.81[ASN][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	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv612113	chr8:121616345-121635396	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121587800-121640600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:121588200-121642400	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr8:121588600-121636600	Weak transcription	Primary B cells from cord blood	blood
4	chr8:121605800-121644400	Weak transcription	Gastric	stomach
5	chr8:121607600-121643000	Weak transcription	Fetal Intestine Large	intestine
6	chr8:121609600-121641000	Weak transcription	Lung	lung
7	chr8:121613200-121668000	Weak transcription	Pancreas	Pancrea
8	chr8:121613400-121637200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:121616000-121637200	Weak transcription	HSMM	muscle
10	chr8:121616600-121639000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:121618200-121634000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:121618400-121637200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:121619000-121633400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:121621800-121644400	Weak transcription	Spleen	Spleen
15	chr8:121623000-121635000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:121623400-121637400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr8:121623400-121647600	Weak transcription	Fetal Intestine Small	intestine
18	chr8:121624400-121637200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:121625000-121642200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr8:121625000-121643600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr8:121625400-121636600	Strong transcription	HepG2	liver
22	chr8:121625600-121645400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr8:121627000-121640400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr8:121627600-121635000	Weak transcription	Psoas Muscle	Psoas
25	chr8:121627600-121637200	Weak transcription	HSMMtube	muscle
26	chr8:121627800-121631800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr8:121627800-121635000	Weak transcription	Right Atrium	heart
28	chr8:121627800-121635200	Weak transcription	Aorta	Aorta
29	chr8:121627800-121637400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr8:121628200-121635000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr8:121628400-121635000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:121628400-121639600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr8:121628600-121673200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr8:121629200-121631400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr8:121629200-121643600	Weak transcription	Primary B cells from peripheral blood	blood
36	chr8:121629400-121634000	Weak transcription	Left Ventricle	heart
37	chr8:121629400-121642600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr8:121629400-121645200	Weak transcription	Fetal Stomach	stomach
39	chr8:121629600-121637000	Weak transcription	NHLF	lung
40	chr8:121630000-121641000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr8:121630200-121631600	Weak transcription	Liver	Liver
42	chr8:121630200-121634200	Weak transcription	Fetal Muscle Leg	muscle
43	chr8:121630200-121635000	Weak transcription	Primary T cells from cord blood	blood
44	chr8:121630200-121635400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:121630200-121637800	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr8:121630400-121636200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr8:121630600-121634000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:121630800-121633400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:121631200-121631600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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