Variant report

Variant	rs71327063
Chromosome Location	chr3:46465356-46465357
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46463233..46466298-chr3:46475344..46477775,3	K562	blood:

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

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];0.85[ASN][1000 genomes]
rs13065351	1.00[AFR][1000 genomes]
rs13071469	1.00[AFR][1000 genomes]
rs13073976	1.00[AFR][1000 genomes]
rs13077302	1.00[AFR][1000 genomes]
rs13078564	1.00[AFR][1000 genomes]
rs13080757	1.00[AFR][1000 genomes]
rs13093063	1.00[AFR][1000 genomes]
rs17141079	0.85[ASN][1000 genomes]
rs17141101	0.95[ASN][1000 genomes]
rs17283712	1.00[AFR][1000 genomes]
rs17284138	1.00[AFR][1000 genomes]
rs17284187	1.00[AFR][1000 genomes]
rs17285143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17715106	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17765882	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17782551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17782618	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17782636	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1894387	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1894388	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs2097285	0.90[EUR][1000 genomes]
rs2157052	0.85[EUR][1000 genomes]
rs2157053	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2157054	0.82[EUR][1000 genomes]
rs2157055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2373245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2373250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2373251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2856762	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3091310	1.00[AFR][1000 genomes]
rs3092957	0.85[ASN][1000 genomes]
rs3092958	0.85[ASN][1000 genomes]
rs3092959	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs3181038	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[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];0.85[ASN][1000 genomes]
rs34041956	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs34073838	1.00[AFR][1000 genomes]
rs34079287	1.00[AFR][1000 genomes]
rs34106161	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs34158148	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34180919	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs34190223	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34200951	0.91[ASN][1000 genomes]
rs34203322	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34245951	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34265215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34351442	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs34363105	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs34448949	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs34455547	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34473395	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs34578126	0.81[ASN][1000 genomes]
rs34671664	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34709208	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs34883716	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34953706	0.85[ASN][1000 genomes]
rs34988015	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs34997818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35117954	1.00[AFR][1000 genomes]
rs35118578	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35148665	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs35218998	1.00[AFR][1000 genomes]
rs35260614	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35367413	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs35373513	1.00[AFR][1000 genomes]
rs35386789	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35413141	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs35438577	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs35479331	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35511592	1.00[AFR][1000 genomes]
rs35513549	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs35516519	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[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];0.81[ASN][1000 genomes]
rs35601704	0.85[ASN][1000 genomes]
rs35646896	1.00[AFR][1000 genomes]
rs35821444	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35878193	0.91[ASN][1000 genomes]
rs35883833	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35943069	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs36020695	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36030692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36052732	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs36078103	1.00[AFR][1000 genomes]
rs3749461	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs3918354	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs3918362	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs3918365	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4473594	1.00[AFR][1000 genomes]
rs6777875	0.85[ASN][1000 genomes]
rs6806951	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71327048	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs71327052	0.85[ASN][1000 genomes]
rs71327053	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs71327054	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs71327055	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs71327056	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs71327057	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs71327059	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71327061	0.85[ASN][1000 genomes]
rs71327062	0.91[ASN][1000 genomes]
rs71327065	0.91[ASN][1000 genomes]
rs71615445	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs9714000	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1014624	chr3:46463424-46549188	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46455800-46496800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr3:46456600-46469400	Weak transcription	Right Atrium	heart
3	chr3:46458600-46469400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr3:46459000-46465600	Strong transcription	Spleen	Spleen
5	chr3:46459400-46468600	Weak transcription	Fetal Intestine Small	intestine
6	chr3:46459400-46491600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr3:46460200-46477000	Weak transcription	Pancreas	Pancrea
8	chr3:46461800-46477000	Weak transcription	Gastric	stomach
9	chr3:46462800-46467800	Weak transcription	Fetal Heart	heart
10	chr3:46463800-46465400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:46463800-46465400	Enhancers	Lung	lung
12	chr3:46463800-46465800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:46463800-46466000	Enhancers	HMEC	breast
14	chr3:46463800-46466000	Enhancers	NHEK	skin
15	chr3:46464000-46465400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:46464000-46465400	Enhancers	Hela-S3	cervix
17	chr3:46464000-46465400	Enhancers	HSMM	muscle
18	chr3:46464600-46467000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:46464600-46468000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr3:46464800-46469400	Weak transcription	HSMMtube	muscle
21	chr3:46465200-46465400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:46465200-46468000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr3:46465200-46488800	Weak transcription	Left Ventricle	heart
24	chr3:46465200-46488800	Weak transcription	Right Ventricle	heart

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