Variant report

Variant	rs8044898
Chromosome Location	chr16:47646424-47646425
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:47646276..47649578-chr16:47653598..47656458,3	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16945398	1.00[AFR][1000 genomes]
rs16945402	1.00[AFR][1000 genomes]
rs16945483	0.94[AFR][1000 genomes]
rs7200023	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs8049167	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8054041	0.97[AFR][1000 genomes]
rs8061091	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795199	chr16:47111119-47732476	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv34317	chr16:47390600-47672479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	16 gene(s)	inside rSNPs	diseases
3	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription 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	27 gene(s)	inside rSNPs	diseases
4	esv1794084	chr16:47478207-47676184	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv525976	chr16:47583872-48035026	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47599800-47651200	Weak transcription	A549	lung
2	chr16:47609000-47646600	Weak transcription	NHLF	lung
3	chr16:47609600-47694400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr16:47620400-47653000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr16:47621200-47651600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr16:47625200-47668400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr16:47625800-47651400	Weak transcription	Brain Angular Gyrus	brain
8	chr16:47626200-47650400	Weak transcription	Osteobl	bone
9	chr16:47626200-47651400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr16:47626200-47676600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr16:47626200-47677600	Weak transcription	Aorta	Aorta
12	chr16:47626400-47647800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr16:47626400-47648200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr16:47626400-47648600	Weak transcription	Colonic Mucosa	Colon
15	chr16:47626400-47649000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr16:47626400-47657200	Weak transcription	Hela-S3	cervix
17	chr16:47626400-47659800	Weak transcription	Fetal Lung	lung
18	chr16:47626400-47670400	Weak transcription	Fetal Intestine Small	intestine
19	chr16:47626600-47646800	Weak transcription	Gastric	stomach
20	chr16:47626600-47647000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr16:47626600-47647000	Weak transcription	NHDF-Ad	bronchial
22	chr16:47626600-47647200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr16:47626600-47647200	Weak transcription	Colon Smooth Muscle	Colon
24	chr16:47626600-47649200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr16:47626600-47651400	Weak transcription	Brain Anterior Caudate	brain
26	chr16:47626600-47651400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr16:47626600-47651600	Weak transcription	Brain Germinal Matrix	brain
28	chr16:47626600-47660800	Weak transcription	Stomach Mucosa	stomach
29	chr16:47626600-47670200	Weak transcription	Spleen	Spleen
30	chr16:47626600-47671000	Weak transcription	Esophagus	oesophagus
31	chr16:47626600-47724600	Weak transcription	Small Intestine	intestine
32	chr16:47626800-47651800	Weak transcription	Placenta	Placenta
33	chr16:47627000-47651600	Weak transcription	K562	blood
34	chr16:47627000-47685000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr16:47628000-47651400	Weak transcription	Brain Substantia Nigra	brain
36	chr16:47633000-47676200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr16:47634800-47650600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr16:47635000-47664800	Weak transcription	Pancreas	Pancrea
39	chr16:47635200-47651600	Weak transcription	Brain Hippocampus Middle	brain
40	chr16:47635200-47684200	Weak transcription	Ovary	ovary
41	chr16:47635600-47670400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr16:47636200-47646600	Weak transcription	Fetal Stomach	stomach
43	chr16:47640800-47651800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr16:47641800-47649600	Weak transcription	Fetal Brain Female	brain
45	chr16:47643000-47651600	Weak transcription	Right Ventricle	heart
46	chr16:47643800-47651400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr16:47643800-47651600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr16:47644400-47646600	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr16:47644400-47647000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr16:47644400-47647400	Strong transcription	Dnd41	blood

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