Variant report

Variant	rs11119996
Chromosome Location	chr1:212859441-212859442
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212858272..212860534-chr1:212861988..212863747,2	K562	blood:
2	chr1:212640637..212643288-chr1:212857721..212859450,2	K562	blood:
3	chr1:212840645..212842220-chr1:212858907..212860751,2	K562	blood:
4	chr1:212851040..212855618-chr1:212856353..212859707,5	MCF-7	breast:
5	chr1:212857319..212860671-chr1:212865664..212868851,3	K562	blood:

Variant related genes	Relation type
ENSG00000224535	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11119992	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11119993	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11119999	0.82[AMR][1000 genomes]
rs11120003	0.91[AMR][1000 genomes]
rs12068948	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12069714	0.91[AMR][1000 genomes]
rs12070621	1.00[AMR][1000 genomes]
rs12084844	0.91[AMR][1000 genomes]
rs58453080	1.00[AMR][1000 genomes]
rs60292092	0.91[AMR][1000 genomes]
rs73079809	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73079814	0.81[AFR][1000 genomes]
rs73079845	0.84[AMR][1000 genomes]
rs74138619	0.82[AMR][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	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	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
5	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212853800-212860000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:212856000-212867200	Weak transcription	Brain Anterior Caudate	brain
3	chr1:212856200-212862600	Weak transcription	Lung	lung
4	chr1:212856600-212861600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:212857000-212867000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:212857200-212860600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:212857200-212862000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:212857200-212862200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:212857200-212871600	Weak transcription	Dnd41	blood
10	chr1:212857600-212863200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:212857600-212869800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr1:212857800-212866200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:212858000-212860000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:212858200-212859800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:212858400-212859600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:212858600-212861600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:212858600-212872200	Weak transcription	Gastric	stomach
18	chr1:212858800-212861800	Weak transcription	Adipose Nuclei	Adipose
19	chr1:212858800-212872200	Weak transcription	Aorta	Aorta
20	chr1:212859000-212861600	Weak transcription	Placenta	Placenta
21	chr1:212859200-212859800	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr1:212859200-212864400	Weak transcription	GM12878-XiMat	blood
23	chr1:212859400-212859600	Enhancers	Spleen	Spleen

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