Variant report

Variant	rs8044920
Chromosome Location	chr16:69838676-69838677
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11075734	0.82[AFR][1000 genomes]
rs11075738	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075739	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11641899	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11643817	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12447095	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12447914	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2173714	0.90[ASN][1000 genomes]
rs34378064	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4275849	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4341733	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985374	0.80[ASN][1000 genomes]
rs4985418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985445	0.88[ASN][1000 genomes]
rs4985446	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4985523	0.81[AFR][1000 genomes]
rs60941540	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62051384	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62051387	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62051389	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6499257	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6499260	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs68039170	0.80[ASN][1000 genomes]
rs7193221	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7194806	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7202223	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7206585	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73579458	0.82[AFR][1000 genomes]
rs8059645	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8063219	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9630631	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69797600-69853400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr16:69807200-69852400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:69807200-69852800	Weak transcription	Hela-S3	cervix
4	chr16:69807200-69854800	Weak transcription	Psoas Muscle	Psoas
5	chr16:69810000-69839800	Weak transcription	HUVEC	blood vessel
6	chr16:69817800-69854600	Weak transcription	HMEC	breast
7	chr16:69820200-69845000	Weak transcription	K562	blood
8	chr16:69822400-69854800	Weak transcription	Stomach Mucosa	stomach
9	chr16:69823800-69874800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr16:69824200-69852400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr16:69830000-69839000	Strong transcription	HepG2	liver
12	chr16:69830200-69856600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr16:69830600-69857600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr16:69830600-69864200	Weak transcription	Colon Smooth Muscle	Colon
15	chr16:69830600-69867000	Weak transcription	Right Ventricle	heart
16	chr16:69831000-69845000	Weak transcription	Fetal Brain Male	brain
17	chr16:69831000-69845600	Weak transcription	A549	lung
18	chr16:69831000-69852400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr16:69831000-69852400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr16:69831000-69854800	Weak transcription	Aorta	Aorta
21	chr16:69831000-69856400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr16:69831200-69846200	Strong transcription	Fetal Intestine Small	intestine
23	chr16:69831600-69838800	Strong transcription	Duodenum Mucosa	Duodenum
24	chr16:69832000-69838800	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr16:69832400-69858400	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr16:69832600-69840000	Strong transcription	Fetal Intestine Large	intestine
27	chr16:69832600-69840400	Strong transcription	Primary B cells from peripheral blood	blood
28	chr16:69833200-69854800	Weak transcription	NH-A	brain
29	chr16:69833400-69852400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr16:69833400-69854600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr16:69833400-69854600	Weak transcription	NHLF	lung
32	chr16:69833600-69845600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr16:69833600-69847800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr16:69833800-69843000	Weak transcription	Esophagus	oesophagus
35	chr16:69833800-69844000	Weak transcription	Pancreas	Pancrea
36	chr16:69833800-69847800	Weak transcription	Adipose Nuclei	Adipose
37	chr16:69833800-69854400	Weak transcription	Osteobl	bone
38	chr16:69833800-69854600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr16:69833800-69854800	Weak transcription	HSMM	muscle
40	chr16:69833800-69854800	Weak transcription	HSMMtube	muscle
41	chr16:69833800-69857600	Weak transcription	Small Intestine	intestine
42	chr16:69833800-69864400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr16:69833800-69874600	Weak transcription	Dnd41	blood
44	chr16:69833800-69875600	Weak transcription	NHEK	skin
45	chr16:69834000-69843800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr16:69834000-69843800	Weak transcription	Gastric	stomach
47	chr16:69834000-69847600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr16:69834000-69850400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr16:69834000-69852400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr16:69834000-69852400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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