Variant report

Variant	rs11927967
Chromosome Location	chr3:17681325-17681326
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:17677327..17679225-chr3:17680575..17682681,2	K562	blood:
2	chr3:17679433..17681398-chr3:17682800..17684516,2	K562	blood:

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs11914537	0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11914797	0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11915560	0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11916424	1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11916984	1.00[EUR][1000 genomes]
rs11921699	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11922861	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11923635	0.86[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11924147	1.00[EUR][1000 genomes]
rs11924560	1.00[EUR][1000 genomes]
rs11925226	1.00[EUR][1000 genomes]
rs11925353	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11926072	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11926087	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs11926251	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11927232	1.00[EUR][1000 genomes]
rs11927283	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11927436	0.83[YRI][hapmap]
rs11927769	0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11929046	1.00[EUR][1000 genomes]
rs11929521	1.00[EUR][1000 genomes]
rs12106899	0.86[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12106900	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12107061	1.00[EUR][1000 genomes]
rs12152509	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12185952	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17044053	0.83[YRI][hapmap]
rs28525383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57352109	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58152540	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58392667	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58777809	1.00[EUR][1000 genomes]
rs58848058	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58921548	1.00[EUR][1000 genomes]
rs59582994	0.87[AMR][1000 genomes]
rs59891221	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59960076	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60245392	1.00[EUR][1000 genomes]
rs60459720	0.95[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	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs61650046	1.00[EUR][1000 genomes]
rs61698855	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6577595	1.00[EUR][1000 genomes]
rs6577629	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6763348	1.00[EUR][1000 genomes]
rs6789382	1.00[EUR][1000 genomes]
rs6796915	1.00[EUR][1000 genomes]
rs73160940	0.87[AMR][1000 genomes]
rs73160942	0.87[AMR][1000 genomes]
rs73160943	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73160950	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73160951	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73160957	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73160959	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73160964	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73160967	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73161427	1.00[EUR][1000 genomes]
rs73161452	1.00[EUR][1000 genomes]
rs73164768	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73164787	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73164796	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73165722	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73165729	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73165734	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73165735	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73165736	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73165740	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73165743	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73165752	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73165764	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73165771	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73165774	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73165775	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73165777	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73165779	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73165792	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73165798	1.00[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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73167510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73167513	1.00[EUR][1000 genomes]
rs73167514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73167523	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73167527	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73168748	1.00[EUR][1000 genomes]
rs73168752	1.00[EUR][1000 genomes]
rs73170844	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73170845	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73170855	1.00[EUR][1000 genomes]
rs73170858	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73170877	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73170878	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73172909	1.00[EUR][1000 genomes]
rs73172914	1.00[EUR][1000 genomes]
rs73172924	1.00[EUR][1000 genomes]
rs7619879	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7620585	0.86[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7621577	1.00[EUR][1000 genomes]
rs7630381	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7631803	1.00[EUR][1000 genomes]
rs7648122	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9680896	1.00[EUR][1000 genomes]
rs9754654	0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9754657	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9941993	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9968236	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv999460	chr3:17360261-17720103	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv536510	chr3:17360261-17720103	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	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
4	esv1849856	chr3:17646794-17748688	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1828838	chr3:17646794-17757960	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17664800-17688600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr3:17664800-17689000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr3:17668800-17706200	Weak transcription	Primary B cells from cord blood	blood
4	chr3:17674000-17690800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr3:17674200-17687600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:17677600-17686800	Weak transcription	Small Intestine	intestine
7	chr3:17679200-17681400	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr3:17679200-17681600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr3:17679200-17681800	Enhancers	HMEC	breast
10	chr3:17679400-17683000	Enhancers	NHLF	lung
11	chr3:17679600-17681600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:17679600-17681800	Enhancers	Hela-S3	cervix
13	chr3:17679600-17682000	Enhancers	HSMM	muscle
14	chr3:17679800-17681800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:17679800-17682600	Enhancers	HUVEC	blood vessel
16	chr3:17680000-17681800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:17680200-17682200	Active TSS	A549	lung
18	chr3:17680400-17681400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:17680400-17681600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:17680400-17681600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:17680600-17681400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:17680800-17683000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:17681000-17681400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:17681000-17681400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr3:17681000-17681400	Enhancers	K562	blood
26	chr3:17681000-17681400	Flanking Active TSS	NH-A	brain
27	chr3:17681000-17681400	Flanking Active TSS	NHEK	skin
28	chr3:17681000-17681600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:17681000-17681600	Enhancers	Adipose Nuclei	Adipose
30	chr3:17681000-17681600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr3:17681000-17681600	Enhancers	HepG2	liver
32	chr3:17681000-17681600	Enhancers	HSMMtube	muscle
33	chr3:17681000-17681600	Flanking Active TSS	Osteobl	bone
34	chr3:17681200-17681400	Enhancers	Primary T cells from cord blood	blood
35	chr3:17681200-17681600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr3:17681200-17681600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:17681200-17681600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr3:17681200-17681600	Enhancers	Aorta	Aorta
39	chr3:17681200-17681600	Enhancers	Brain Angular Gyrus	brain
40	chr3:17681200-17681600	Enhancers	Colon Smooth Muscle	Colon
41	chr3:17681200-17681600	Enhancers	Left Ventricle	heart
42	chr3:17681200-17681600	Enhancers	Right Atrium	heart
43	chr3:17681200-17681600	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr3:17681200-17681600	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr3:17681200-17681600	Flanking Active TSS	NHDF-Ad	bronchial
46	chr3:17681200-17681800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:17681200-17682600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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