Variant report

Variant	rs17782551
Chromosome Location	chr3:46437400-46437401
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46433060..46435170-chr3:46436766..46439385,2	K562	blood:
2	chr3:46435557..46438302-chr3:46445017..46447658,3	MCF-7	breast:
3	chr3:46436463..46438554-chr3:46441253..46442786,2	K562	blood:
4	chr3:46428873..46431436-chr3:46435878..46437838,2	K562	blood:
5	chr3:46428873..46431704-chr3:46436211..46437838,2	K562	blood:

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs11574430	0.95[ASN][1000 genomes]
rs11574436	0.95[ASN][1000 genomes]
rs11574442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11575062	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs13065351	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13068145	0.82[ASN][1000 genomes]
rs13068271	0.82[ASN][1000 genomes]
rs13071469	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13073976	1.00[AFR][1000 genomes]
rs13077302	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13078564	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13080757	1.00[AFR][1000 genomes]
rs13093063	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13100243	0.82[ASN][1000 genomes]
rs17141079	0.95[ASN][1000 genomes]
rs17141101	0.95[ASN][1000 genomes]
rs17283712	1.00[AFR][1000 genomes]
rs17284138	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs17284187	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs17285143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17715106	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17765882	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17782618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17782636	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894387	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1894388	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2097285	0.96[EUR][1000 genomes]
rs2157052	0.80[EUR][1000 genomes]
rs2157053	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2157055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2373245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2373250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2373251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2856762	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28677778	0.82[ASN][1000 genomes]
rs3091310	1.00[AFR][1000 genomes]
rs3092957	0.95[ASN][1000 genomes]
rs3092958	0.95[ASN][1000 genomes]
rs3092959	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs3181038	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3204850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34024447	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs34041956	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs34073838	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs34079287	1.00[AFR][1000 genomes]
rs34106161	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs34158148	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34180919	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs34190223	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34200951	1.00[ASN][1000 genomes]
rs34203322	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34245951	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34265215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34351442	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs34363105	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs34448949	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs34455547	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34473395	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs34578126	0.91[ASN][1000 genomes]
rs34671664	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34709208	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs34883716	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34953706	0.95[ASN][1000 genomes]
rs34988015	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs34997818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35117954	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs35118578	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35148665	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs35203745	0.82[ASN][1000 genomes]
rs35218998	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs35260614	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35367413	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs35373513	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs35386789	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35413141	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs35438577	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs35479331	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35511592	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs35513549	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35516519	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35568430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35577626	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs35601704	0.95[ASN][1000 genomes]
rs35646896	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs35821444	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35878193	1.00[ASN][1000 genomes]
rs35883833	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35943069	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs36020695	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36030692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36052732	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs36078103	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs3749461	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs3918354	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs3918362	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs3918365	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4473594	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6777875	0.95[ASN][1000 genomes]
rs6793370	0.82[ASN][1000 genomes]
rs6806951	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71327048	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs71327052	0.95[ASN][1000 genomes]
rs71327053	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs71327054	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs71327055	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs71327056	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs71327057	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs71327059	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71327061	0.95[ASN][1000 genomes]
rs71327062	1.00[ASN][1000 genomes]
rs71327063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71327065	0.82[ASN][1000 genomes]
rs71615445	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7649905	0.82[ASN][1000 genomes]
rs9714000	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9810242	0.82[ASN][1000 genomes]
rs9882616	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription 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	42 gene(s)	inside rSNPs	diseases
2	esv3323840	chr3:46352348-46497196	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3389382	chr3:46352798-46496696	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2756988	chr3:46419634-46444794	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2759146	chr3:46419634-46444794	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv10267	chr3:46423130-46440713	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46422400-46438600	Weak transcription	Psoas Muscle	Psoas
2	chr3:46425400-46441800	Weak transcription	Stomach Mucosa	stomach
3	chr3:46425800-46446600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:46428000-46448400	Weak transcription	Primary T cells from cord blood	blood
5	chr3:46432400-46438200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:46432600-46437400	Enhancers	Placenta	Placenta
7	chr3:46434200-46437800	Enhancers	Fetal Intestine Large	intestine
8	chr3:46434400-46438200	Enhancers	Adipose Nuclei	Adipose
9	chr3:46434600-46437600	Enhancers	Fetal Intestine Small	intestine
10	chr3:46434600-46438000	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr3:46434600-46438600	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr3:46435200-46439000	Enhancers	Spleen	Spleen
13	chr3:46435400-46437400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr3:46435400-46438000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:46435400-46440800	Weak transcription	Esophagus	oesophagus
16	chr3:46435600-46437400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr3:46435600-46437400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr3:46435600-46437400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr3:46435600-46439200	Enhancers	Lung	lung
20	chr3:46435800-46438200	Weak transcription	Right Atrium	heart
21	chr3:46436000-46438400	Weak transcription	Left Ventricle	heart
22	chr3:46436400-46438800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr3:46436600-46437600	Enhancers	HMEC	breast
24	chr3:46436600-46438600	Weak transcription	Pancreas	Pancrea
25	chr3:46436600-46439000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr3:46436600-46439200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr3:46436800-46437400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:46436800-46437800	Enhancers	HSMM	muscle
29	chr3:46436800-46438400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr3:46436800-46438400	Enhancers	Fetal Thymus	thymus
31	chr3:46436800-46438600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:46437000-46437400	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:46437000-46437600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:46437000-46437800	Enhancers	Osteobl	bone
35	chr3:46437000-46438400	Enhancers	Duodenum Mucosa	Duodenum
36	chr3:46437000-46438800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr3:46437000-46438800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr3:46437200-46438400	Enhancers	Primary B cells from cord blood	blood
39	chr3:46437200-46438400	Enhancers	Brain Anterior Caudate	brain
40	chr3:46437200-46438400	Enhancers	Dnd41	blood
41	chr3:46437200-46438600	Enhancers	Primary hematopoietic stem cells	blood
42	chr3:46437200-46438800	Enhancers	Primary B cells from peripheral blood	blood
43	chr3:46437200-46440400	Weak transcription	K562	blood
44	chr3:46437200-46446800	Weak transcription	Hela-S3	cervix
45	chr3:46437400-46437600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
46	chr3:46437400-46438000	Enhancers	Primary T cells fromperipheralblood	blood
47	chr3:46437400-46438200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr3:46437400-46438600	Bivalent Enhancer	Placenta	Placenta
49	chr3:46437400-46438600	Enhancers	GM12878-XiMat	blood
50	chr3:46437400-46439200	Enhancers	Skeletal Muscle Male	skeletal muscle

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