Variant report

Variant	rs12069714
Chromosome Location	chr1:212865879-212865880
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	chr1:212865556..212867815-chr1:212870063..212872235,2	MCF-7	breast:
2	chr1:212857319..212860671-chr1:212865664..212868851,3	K562	blood:

Variant related genes	Relation type
ENSG00000123685	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11119992	0.91[AMR][1000 genomes]
rs11119993	0.91[AMR][1000 genomes]
rs11119996	0.91[AMR][1000 genomes]
rs11120003	0.83[AMR][1000 genomes]
rs12059590	1.00[EUR][1000 genomes]
rs12068948	0.83[AMR][1000 genomes]
rs12070621	0.91[AMR][1000 genomes]
rs12075398	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12075971	1.00[EUR][1000 genomes]
rs12084844	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17019510	1.00[EUR][1000 genomes]
rs56412520	1.00[EUR][1000 genomes]
rs58453080	0.91[AMR][1000 genomes]
rs59478106	1.00[EUR][1000 genomes]
rs60292092	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73077780	1.00[EUR][1000 genomes]
rs73077781	1.00[EUR][1000 genomes]
rs73077794	1.00[EUR][1000 genomes]
rs73079809	0.83[AMR][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	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	esv1829918	chr1:212828460-212874731	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212856000-212867200	Weak transcription	Brain Anterior Caudate	brain
2	chr1:212857000-212867000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:212857200-212871600	Weak transcription	Dnd41	blood
4	chr1:212857600-212869800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr1:212857800-212866200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:212858600-212872200	Weak transcription	Gastric	stomach
7	chr1:212858800-212872200	Weak transcription	Aorta	Aorta
8	chr1:212862600-212871600	Weak transcription	NHLF	lung
9	chr1:212863400-212868400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:212863400-212872200	Weak transcription	Spleen	Spleen
11	chr1:212863800-212866200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:212863800-212867600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:212863800-212869600	Weak transcription	Placenta	Placenta
14	chr1:212864000-212866200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:212864000-212867600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:212864400-212866400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:212864400-212866600	Enhancers	GM12878-XiMat	blood
18	chr1:212865200-212866800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:212865400-212866600	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr1:212865600-212871000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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