Variant report

Variant	rs16919544
Chromosome Location	chr8:54672391-54672392
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	chr8:54672064..54673646-chr8:54673878..54676217,2	MCF-7	breast:
2	chr8:54667680..54670590-chr8:54671196..54673684,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16919511	0.83[LWK][hapmap];0.93[MKK][hapmap];1.00[AMR][1000 genomes]
rs16919513	0.81[MKK][hapmap]
rs16919528	1.00[AMR][1000 genomes]
rs16919591	1.00[ASW][hapmap];0.94[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][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	esv2758159	chr8:54474589-54737473	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2759616	chr8:54474589-54737473	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54642600-54672800	Weak transcription	Right Ventricle	heart
2	chr8:54646000-54672600	Weak transcription	Psoas Muscle	Psoas
3	chr8:54650200-54707400	Weak transcription	HUVEC	blood vessel
4	chr8:54652800-54673000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:54655400-54703600	Weak transcription	Brain Angular Gyrus	brain
6	chr8:54655600-54672400	Weak transcription	Fetal Heart	heart
7	chr8:54655800-54726000	Weak transcription	Colonic Mucosa	Colon
8	chr8:54656400-54672600	Weak transcription	Small Intestine	intestine
9	chr8:54656600-54676200	Weak transcription	Aorta	Aorta
10	chr8:54656800-54680200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr8:54657000-54672600	Weak transcription	HepG2	liver
12	chr8:54658400-54679600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:54661800-54673400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr8:54664000-54680600	Weak transcription	Hela-S3	cervix
15	chr8:54664000-54680600	Weak transcription	K562	blood
16	chr8:54667600-54672600	Weak transcription	Left Ventricle	heart
17	chr8:54667600-54672600	Weak transcription	Pancreas	Pancrea
18	chr8:54667600-54676200	Weak transcription	Brain Hippocampus Middle	brain
19	chr8:54667600-54685800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:54667800-54672600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:54667800-54672600	Weak transcription	Lung	lung
22	chr8:54667800-54672800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:54667800-54680600	Weak transcription	Brain Anterior Caudate	brain
24	chr8:54667800-54687400	Weak transcription	Spleen	Spleen
25	chr8:54667800-54726200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:54668000-54672400	Weak transcription	A549	lung
27	chr8:54668000-54672600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:54668000-54672600	Weak transcription	Placenta	Placenta
29	chr8:54668000-54672600	Weak transcription	Ovary	ovary
30	chr8:54668000-54672800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr8:54668000-54672800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:54668000-54673000	Weak transcription	GM12878-XiMat	blood
33	chr8:54668000-54674000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr8:54668000-54677200	Weak transcription	Thymus	Thymus
35	chr8:54668000-54680400	Weak transcription	Fetal Kidney	kidney
36	chr8:54668000-54680600	Weak transcription	HSMMtube	muscle
37	chr8:54668000-54680800	Weak transcription	HSMM	muscle
38	chr8:54668000-54687400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr8:54668000-54703000	Weak transcription	Brain Substantia Nigra	brain
40	chr8:54668200-54672400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr8:54668200-54672600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr8:54668200-54672600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:54668200-54672600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr8:54668200-54672800	Weak transcription	Fetal Muscle Leg	muscle
45	chr8:54668200-54672800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr8:54668200-54673200	Weak transcription	Primary B cells from peripheral blood	blood
47	chr8:54669000-54675200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr8:54669200-54673000	Weak transcription	Fetal Lung	lung
49	chr8:54669200-54674000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr8:54669200-54674600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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