Variant report

Variant	rs16823216
Chromosome Location	chr1:184437305-184437306
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10494579	1.00[EUR][1000 genomes]
rs1111087	1.00[EUR][1000 genomes]
rs12066684	1.00[EUR][1000 genomes]
rs12072264	1.00[EUR][1000 genomes]
rs12076686	1.00[EUR][1000 genomes]
rs12076687	1.00[EUR][1000 genomes]
rs13328702	1.00[EUR][1000 genomes]
rs13375618	1.00[EUR][1000 genomes]
rs16822757	1.00[EUR][1000 genomes]
rs16822764	1.00[EUR][1000 genomes]
rs16822766	1.00[EUR][1000 genomes]
rs16822783	1.00[EUR][1000 genomes]
rs16822793	1.00[EUR][1000 genomes]
rs16823189	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823192	1.00[EUR][1000 genomes]
rs1930289	1.00[EUR][1000 genomes]
rs2224030	1.00[EUR][1000 genomes]
rs4354502	1.00[EUR][1000 genomes]
rs4543760	1.00[EUR][1000 genomes]
rs56707979	1.00[EUR][1000 genomes]
rs56797986	1.00[EUR][1000 genomes]
rs58307611	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59737381	1.00[EUR][1000 genomes]
rs59949779	1.00[EUR][1000 genomes]
rs60807093	1.00[EUR][1000 genomes]
rs6667688	1.00[EUR][1000 genomes]
rs6668105	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6669875	1.00[EUR][1000 genomes]
rs6670740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6694683	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046716	1.00[EUR][1000 genomes]
rs73046783	1.00[EUR][1000 genomes]
rs73046796	1.00[EUR][1000 genomes]
rs73059524	1.00[EUR][1000 genomes]
rs73059529	1.00[EUR][1000 genomes]
rs73059544	1.00[EUR][1000 genomes]
rs73063511	1.00[EUR][1000 genomes]
rs73063520	1.00[EUR][1000 genomes]
rs73063529	1.00[EUR][1000 genomes]
rs73063555	1.00[EUR][1000 genomes]
rs74131644	1.00[EUR][1000 genomes]
rs74131649	1.00[EUR][1000 genomes]
rs74131651	1.00[EUR][1000 genomes]
rs74131665	1.00[EUR][1000 genomes]
rs74131666	1.00[EUR][1000 genomes]
rs74131668	1.00[EUR][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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers 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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184419200-184438400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:184425400-184442200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:184427400-184443800	Weak transcription	Esophagus	oesophagus
4	chr1:184427400-184444000	Weak transcription	Lung	lung
5	chr1:184427400-184448400	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:184429000-184454800	Weak transcription	Aorta	Aorta
7	chr1:184429400-184449600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:184429600-184442200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:184430400-184439000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:184430600-184444000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:184430600-184449800	Weak transcription	Right Ventricle	heart
12	chr1:184430600-184450000	Weak transcription	Fetal Stomach	stomach
13	chr1:184431400-184446400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:184431800-184440600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:184431800-184447600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:184432000-184443400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:184433200-184442200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:184433600-184442000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:184433600-184449600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr1:184433800-184443600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:184435200-184440400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:184435400-184438600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:184435400-184439600	Weak transcription	NHEK	skin
24	chr1:184436600-184437400	Enhancers	Brain Angular Gyrus	brain
25	chr1:184436800-184438400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr1:184436800-184439600	Weak transcription	Psoas Muscle	Psoas
27	chr1:184436800-184440600	Weak transcription	Right Atrium	heart
28	chr1:184436800-184442400	Weak transcription	Left Ventricle	heart
29	chr1:184436800-184442400	Weak transcription	Ovary	ovary
30	chr1:184436800-184444000	Weak transcription	Pancreas	Pancrea
31	chr1:184437000-184440600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:184437000-184440600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:184437000-184441000	Weak transcription	Colon Smooth Muscle	Colon
34	chr1:184437200-184438400	Weak transcription	Fetal Heart	heart

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