Variant report

Variant	rs2213290
Chromosome Location	chr3:46406367-46406368
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46394354..46395858-chr3:46405503..46408309,2	K562	blood:

Variant related genes	Relation type
ENSG00000121807	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11574433	0.82[AFR][1000 genomes]
rs11575815	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11575816	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1799988	0.81[ASN][1000 genomes]
rs1800023	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1800874	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2187674	0.84[AFR][1000 genomes]
rs2254089	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2734225	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2734648	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2856757	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2856764	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2856765	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3087252	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3181039	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3204849	0.82[AFR][1000 genomes]
rs34682274	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs41515644	0.96[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4560336	0.82[AFR][1000 genomes]
rs4683220	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs916091	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46396000-46422000	Weak transcription	Lung	lung
2	chr3:46403000-46408000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr3:46403600-46407000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:46403800-46409600	Weak transcription	Fetal Intestine Large	intestine
5	chr3:46404000-46407400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr3:46404000-46409400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr3:46404000-46409400	Weak transcription	Fetal Thymus	thymus
8	chr3:46404200-46407000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr3:46404200-46407000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr3:46404200-46407000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr3:46404200-46409400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr3:46404400-46406600	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr3:46404400-46406600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr3:46404400-46407400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr3:46404400-46409000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:46404400-46409200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr3:46404400-46409400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr3:46404400-46412400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr3:46404400-46422200	Weak transcription	Thymus	Thymus
20	chr3:46404400-46424600	Weak transcription	Spleen	Spleen
21	chr3:46404600-46409200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr3:46404600-46411200	Weak transcription	Small Intestine	intestine
23	chr3:46405400-46408000	Weak transcription	GM12878-XiMat	blood
24	chr3:46405600-46408000	Enhancers	Monocytes-CD14+_RO01746	blood

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