Variant report

Variant	rs11927283
Chromosome Location	chr3:17763253-17763254
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:17755313..17757600-chr3:17763097..17765739,2	MCF-7	breast:
2	chr3:17758395..17761068-chr3:17761765..17764577,2	MCF-7	breast:

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs11914537	0.87[AMR][1000 genomes]
rs11914797	0.87[AMR][1000 genomes]
rs11915560	0.87[AMR][1000 genomes]
rs11916424	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11921699	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11922861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11923635	0.87[AMR][1000 genomes]
rs11924147	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11924560	1.00[EUR][1000 genomes]
rs11925226	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11925353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11926072	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11926087	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11926251	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11927232	1.00[EUR][1000 genomes]
rs11927769	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11927967	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11929046	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11929521	1.00[EUR][1000 genomes]
rs12106899	0.87[AMR][1000 genomes]
rs12106900	0.87[AMR][1000 genomes]
rs12107061	1.00[EUR][1000 genomes]
rs12152509	0.87[AMR][1000 genomes]
rs12185952	0.87[AMR][1000 genomes]
rs28525383	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57352109	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58152540	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58392667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58848058	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58921548	1.00[EUR][1000 genomes]
rs59582994	0.87[AMR][1000 genomes]
rs59891221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59960076	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60245392	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60459720	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60662240	1.00[EUR][1000 genomes]
rs60803166	1.00[EUR][1000 genomes]
rs60838916	1.00[EUR][1000 genomes]
rs60940413	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs61650046	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61698855	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6577595	1.00[EUR][1000 genomes]
rs6577629	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6763348	1.00[EUR][1000 genomes]
rs6796915	1.00[EUR][1000 genomes]
rs73160940	0.87[AMR][1000 genomes]
rs73160942	0.87[AMR][1000 genomes]
rs73160943	0.87[AMR][1000 genomes]
rs73160950	0.87[AMR][1000 genomes]
rs73160951	0.87[AMR][1000 genomes]
rs73160957	0.87[AMR][1000 genomes]
rs73160959	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73160964	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73160967	0.87[AMR][1000 genomes]
rs73164768	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73164787	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73164796	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73165722	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73165729	0.87[AMR][1000 genomes]
rs73165734	0.87[AMR][1000 genomes]
rs73165735	0.87[AMR][1000 genomes]
rs73165736	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73165740	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73165743	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73165752	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73165764	0.87[AMR][1000 genomes]
rs73165771	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73165774	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73165775	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73165777	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73165779	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73165792	0.87[AMR][1000 genomes]
rs73165798	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73166516	1.00[EUR][1000 genomes]
rs73166544	1.00[EUR][1000 genomes]
rs73167503	1.00[AMR][1000 genomes]
rs73167510	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73167513	1.00[EUR][1000 genomes]
rs73167514	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73167523	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73167527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73168748	1.00[EUR][1000 genomes]
rs73168752	1.00[EUR][1000 genomes]
rs73170844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73170855	1.00[EUR][1000 genomes]
rs73170858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73170877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73170878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73172909	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73172914	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73172924	1.00[EUR][1000 genomes]
rs7619879	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7620585	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7630381	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7631803	1.00[EUR][1000 genomes]
rs7648122	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9680896	1.00[EUR][1000 genomes]
rs9754654	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9754657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9941993	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9968236	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];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	nsv1013069	chr3:17560456-17783372	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv999594	chr3:17690416-17982318	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17755200-17771800	Weak transcription	Brain Angular Gyrus	brain
2	chr3:17755400-17781600	Weak transcription	Pancreas	Pancrea
3	chr3:17756200-17774600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr3:17756200-17782400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:17756400-17766800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr3:17756400-17780600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr3:17756400-17782800	Weak transcription	Aorta	Aorta
8	chr3:17756600-17767200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr3:17756600-17767400	Weak transcription	Fetal Kidney	kidney
10	chr3:17756600-17767400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr3:17756600-17767600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:17756600-17771800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr3:17756600-17782200	Weak transcription	HSMM	muscle
14	chr3:17756800-17781600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr3:17756800-17782200	Weak transcription	NHLF	lung
16	chr3:17757000-17766800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:17757000-17767200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr3:17757000-17780600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr3:17757200-17766600	Weak transcription	Liver	Liver
20	chr3:17757200-17767000	Weak transcription	A549	lung
21	chr3:17757200-17767200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr3:17757200-17767400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr3:17757200-17767600	Weak transcription	K562	blood
24	chr3:17757200-17767800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr3:17757200-17767800	Weak transcription	Brain Anterior Caudate	brain
26	chr3:17757200-17768000	Weak transcription	Thymus	Thymus
27	chr3:17757200-17771600	Weak transcription	HUVEC	blood vessel
28	chr3:17757200-17774400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr3:17757200-17780400	Weak transcription	Adipose Nuclei	Adipose
30	chr3:17757200-17780800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr3:17757200-17782200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:17757400-17766800	Weak transcription	Fetal Lung	lung
33	chr3:17757400-17769400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr3:17757400-17770600	Weak transcription	Placenta	Placenta
35	chr3:17757400-17771800	Weak transcription	Brain Hippocampus Middle	brain
36	chr3:17757400-17780400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr3:17757400-17780600	Weak transcription	Small Intestine	intestine
38	chr3:17757400-17781600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:17757400-17782400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr3:17757600-17766200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:17757600-17766600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr3:17757600-17767000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr3:17757600-17767200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr3:17757600-17769400	Weak transcription	Esophagus	oesophagus
45	chr3:17757600-17780600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr3:17757600-17781000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr3:17757600-17781600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr3:17757600-17782200	Weak transcription	Spleen	Spleen
49	chr3:17757600-17782400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr3:17757600-17783200	Weak transcription	Ovary	ovary

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