Variant report

Variant	rs28450346
Chromosome Location	chr16:71894675-71894676
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71843676..71845898-chr16:71893774..71896264,2	MCF-7	breast:
2	chr16:71894255..71897877-chr16:71898217..71900097,3	K562	blood:
3	chr16:71887515..71889704-chr16:71893205..71894895,2	MCF-7	breast:
4	chr16:71883276..71884915-chr16:71893222..71894749,2	MCF-7	breast:
5	chr16:71879509..71881440-chr16:71892931..71895761,2	MCF-7	breast:
6	chr16:71878173..71880285-chr16:71891933..71895424,3	K562	blood:
7	chr16:71886073..71892139-chr16:71892415..71896075,7	K562	blood:

Variant related genes	Relation type
ENSG00000182149	Chromatin interaction
ENSG00000224470	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs13334617	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13335391	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13337119	1.00[AMR][1000 genomes]
rs28431030	1.00[AFR][1000 genomes]
rs28450081	1.00[AMR][1000 genomes]
rs28523974	0.92[AFR][1000 genomes]
rs28711364	1.00[AMR][1000 genomes]
rs35999277	0.80[AFR][1000 genomes]
rs59358880	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7186536	1.00[AMR][1000 genomes]
rs7191105	1.00[AMR][1000 genomes]
rs7198387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7202000	1.00[AMR][1000 genomes]
rs73578375	1.00[AMR][1000 genomes]
rs73582271	1.00[AMR][1000 genomes]
rs73582274	1.00[AMR][1000 genomes]
rs73582278	1.00[AMR][1000 genomes]
rs73582282	1.00[AMR][1000 genomes]
rs73582529	1.00[AMR][1000 genomes]
rs73584107	1.00[AMR][1000 genomes]
rs73590035	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73590039	0.89[AFR][1000 genomes]
rs73590051	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74027713	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8045275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8048947	1.00[AMR][1000 genomes]
rs8051461	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9673858	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9921383	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9923154	1.00[AMR][1000 genomes]
rs9923213	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9925225	1.00[AMR][1000 genomes]
rs9928365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9932715	1.00[AMR][1000 genomes]
rs9932742	1.00[AMR][1000 genomes]
rs9933862	1.00[AMR][1000 genomes]
rs9937049	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9937974	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9941356	0.80[AFR][1000 genomes];1.00[AMR][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	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS 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	89 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71881000-71902200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:71881200-71916600	Weak transcription	Small Intestine	intestine
3	chr16:71881800-71895800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr16:71881800-71897000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr16:71881800-71899000	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr16:71881800-71902000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr16:71881800-71904600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr16:71881800-71914400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr16:71881800-71914600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr16:71882000-71903800	Strong transcription	Brain Germinal Matrix	brain
11	chr16:71882000-71915600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:71882400-71902400	Strong transcription	Fetal Stomach	stomach
13	chr16:71882400-71914600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr16:71883600-71897000	Weak transcription	Hela-S3	cervix
15	chr16:71884600-71902000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr16:71885200-71912800	Weak transcription	NHDF-Ad	bronchial
17	chr16:71885600-71898000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr16:71885600-71916600	Weak transcription	Stomach Mucosa	stomach
19	chr16:71886000-71898400	Weak transcription	HMEC	breast
20	chr16:71886400-71904200	Strong transcription	Fetal Muscle Trunk	muscle
21	chr16:71886400-71904600	Strong transcription	Fetal Brain Female	brain
22	chr16:71887600-71896800	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr16:71888000-71914800	Weak transcription	HUVEC	blood vessel
24	chr16:71888000-71916400	Weak transcription	NHEK	skin
25	chr16:71888200-71910600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr16:71888400-71903000	Weak transcription	K562	blood
27	chr16:71888600-71903800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr16:71888800-71896600	Strong transcription	Primary B cells from cord blood	blood
29	chr16:71889200-71904000	Strong transcription	Primary T cells from cord blood	blood
30	chr16:71889600-71900200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr16:71889800-71896000	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr16:71890000-71899200	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr16:71890200-71913000	Weak transcription	Osteobl	bone
34	chr16:71890400-71895200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr16:71890400-71895200	Weak transcription	Right Ventricle	heart
36	chr16:71890400-71897800	Weak transcription	Psoas Muscle	Psoas
37	chr16:71890600-71895400	Weak transcription	Colon Smooth Muscle	Colon
38	chr16:71890600-71899600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr16:71890800-71895200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr16:71890800-71895200	Weak transcription	Fetal Brain Male	brain
41	chr16:71890800-71895400	Strong transcription	Fetal Thymus	thymus
42	chr16:71890800-71895800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr16:71890800-71898000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr16:71890800-71898400	Weak transcription	Right Atrium	heart
45	chr16:71891000-71896400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr16:71891000-71898000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr16:71891000-71914000	Strong transcription	Primary B cells from peripheral blood	blood
48	chr16:71891400-71899800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr16:71891400-71905400	Strong transcription	Fetal Lung	lung
50	chr16:71891400-71906600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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