Variant report

Variant	rs34988015
Chromosome Location	chr3:46356048-46356049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr3:46355995-46356248	GM12878	blood:	n/a	n/a
2	RUNX3	chr3:46356012-46356336	GM12878	blood:	n/a	n/a
3	IKZF1	chr3:46356019-46356366	GM12878	blood:	n/a	n/a
4	GATA3	chr3:46355888-46356226	T-47D	breast:	n/a	chr3:46356006-46356022 chr3:46356008-46356020 chr3:46355948-46355961 chr3:46356008-46356015

Variant related genes	Relation type
UQCRC2P1	TF binding region

Extended variants
information (count: 130 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs10510750	0.85[EUR][1000 genomes]
rs11574430	0.86[ASN][1000 genomes]
rs11574436	0.86[ASN][1000 genomes]
rs11574442	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11575062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11919884	0.87[EUR][1000 genomes]
rs13065351	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13068145	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13068271	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13071469	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13073976	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13077302	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13078564	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13080757	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13093063	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13096808	0.81[EUR][1000 genomes]
rs13100243	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17141079	0.95[ASN][1000 genomes]
rs17141101	0.86[ASN][1000 genomes]
rs17217831	0.91[EUR][1000 genomes]
rs17283712	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs17284138	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17284187	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17285143	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs17715106	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17765882	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17782551	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs17782618	0.91[ASN][1000 genomes]
rs17782636	0.91[ASN][1000 genomes]
rs1894387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1894388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2157053	1.00[AFR][1000 genomes]
rs2157055	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2373245	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2373250	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2373251	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2856762	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs28677778	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3091310	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs3092957	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3092958	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3092959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3181038	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs3204850	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs34024447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34041956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34073838	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34079287	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs34106161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34158148	0.95[ASN][1000 genomes]
rs34180919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34190223	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs34200951	0.91[ASN][1000 genomes]
rs34203322	0.83[ASN][1000 genomes]
rs34245951	0.81[ASN][1000 genomes]
rs34265215	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs34272024	0.84[EUR][1000 genomes]
rs34351442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34363105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34406035	0.88[EUR][1000 genomes]
rs34448949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34455547	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs34473395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34578126	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34671664	0.81[ASN][1000 genomes]
rs34709208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34883716	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs34953706	0.95[ASN][1000 genomes]
rs34997818	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs35035328	0.86[EUR][1000 genomes]
rs35117954	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35118578	0.82[ASN][1000 genomes]
rs35148665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35203745	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35218998	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35260614	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs35367413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35373513	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35386789	0.82[ASN][1000 genomes]
rs35413141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35438577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35479331	0.95[ASN][1000 genomes]
rs35511592	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35513549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35516519	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs35568430	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs35577626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35601704	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35646896	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35821444	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs35878193	0.91[ASN][1000 genomes]
rs35883833	0.81[ASN][1000 genomes]
rs35943069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36020695	0.81[ASN][1000 genomes]
rs36030692	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs36048333	0.88[EUR][1000 genomes]
rs36052732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36078103	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3749461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3918354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3918362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3918365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3918368	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4473594	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4987053	0.90[EUR][1000 genomes]
rs6777875	0.95[ASN][1000 genomes]
rs6793370	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6806951	0.91[ASN][1000 genomes]
rs71327047	0.95[EUR][1000 genomes]
rs71327048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71327052	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71327053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71327054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71327055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71327056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71327057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71327059	0.95[ASN][1000 genomes]
rs71327061	0.95[ASN][1000 genomes]
rs71327062	0.91[ASN][1000 genomes]
rs71327063	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs71615445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71622511	0.90[EUR][1000 genomes]
rs7649905	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9714000	1.00[AFR][1000 genomes]
rs9810242	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9872023	0.95[EUR][1000 genomes]
rs9882616	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46350800-46367600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:46352600-46358000	Weak transcription	Spleen	Spleen
3	chr3:46354000-46356800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr3:46355000-46359600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr3:46355400-46356800	Enhancers	Dnd41	blood
6	chr3:46355600-46356200	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr3:46355600-46362000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr3:46356000-46356400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr3:46356000-46356400	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr3:46356000-46356400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:46356000-46356800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr3:46356000-46356800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr3:46356000-46356800	Enhancers	GM12878-XiMat	blood
14	chr3:46356000-46358400	Enhancers	Primary B cells from cord blood	blood
15	chr3:46356000-46359800	Enhancers	Primary B cells from peripheral blood	blood

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