Variant report

Variant	rs73551446
Chromosome Location	chr16:48314664-48314665
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:48311363..48313825-chr16:48314630..48317247,2	K562	blood:
2	chr16:48310047..48313825-chr16:48313947..48317247,4	K562	blood:
3	chr16:48307038..48308620-chr16:48312686..48315036,2	K562	blood:
4	chr16:48313308..48314939-chr16:48319940..48322904,2	K562	blood:
5	chr16:48313437..48315370-chr16:48318626..48321162,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs35374298	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57503116	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57833761	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57937994	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60654623	1.00[AMR][1000 genomes]
rs60747434	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60778835	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7192772	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550078	1.00[AMR][1000 genomes]
rs73550084	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550090	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550093	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550096	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550097	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550099	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551462	1.00[AMR][1000 genomes]
rs73551474	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551482	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73552007	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73555664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562026	1.00[AMR][1000 genomes]
rs73562044	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562047	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562067	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562076	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8048632	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8053521	1.00[AMR][1000 genomes]
rs8056369	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8056984	0.83[AFR][1000 genomes];1.00[AMR][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	nsv1061316	chr16:48264175-48594219	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv1821072	chr16:48268318-48504364	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv833219	chr16:48290595-48459301	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1061708	chr16:48304343-48482594	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv542917	chr16:48304343-48482594	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 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	chr16:48279600-48320200	Weak transcription	Spleen	Spleen
2	chr16:48287400-48320200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:48289400-48320400	Weak transcription	Esophagus	oesophagus
4	chr16:48293800-48320400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr16:48294800-48320400	Weak transcription	Lung	lung
6	chr16:48297200-48323200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr16:48297600-48318600	Strong transcription	Primary B cells from peripheral blood	blood
8	chr16:48297600-48319800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr16:48297600-48321000	Weak transcription	Fetal Brain Male	brain
10	chr16:48297800-48319800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr16:48297800-48320800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr16:48297800-48320800	Weak transcription	Brain Germinal Matrix	brain
13	chr16:48297800-48320800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr16:48297800-48320800	Weak transcription	Small Intestine	intestine
15	chr16:48299000-48320400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr16:48300200-48320200	Weak transcription	Fetal Stomach	stomach
17	chr16:48302800-48321000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr16:48303000-48314800	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr16:48303000-48315200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr16:48304400-48317000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr16:48304800-48318400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr16:48304800-48319200	Weak transcription	Hela-S3	cervix
23	chr16:48305200-48328600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr16:48305400-48320400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr16:48305600-48317000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr16:48306000-48317000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr16:48307200-48319000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr16:48307200-48320400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr16:48307200-48321000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr16:48310200-48314800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr16:48310200-48315400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr16:48310200-48316200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr16:48310400-48314800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr16:48310400-48317600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr16:48310400-48320200	Weak transcription	Aorta	Aorta
36	chr16:48310600-48316600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr16:48310600-48319000	Weak transcription	Fetal Brain Female	brain
38	chr16:48310800-48317200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr16:48311000-48314800	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr16:48311000-48315000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr16:48311000-48315600	Strong transcription	Duodenum Mucosa	Duodenum
42	chr16:48311000-48317000	Weak transcription	Colon Smooth Muscle	Colon
43	chr16:48311200-48314800	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr16:48311200-48315000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr16:48311200-48315000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr16:48311200-48315600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr16:48311200-48318200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr16:48311400-48319800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr16:48311400-48320200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr16:48311600-48314800	Strong transcription	HepG2	liver

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