Variant report

Variant	rs1513324
Chromosome Location	chr3:111269549-111269550
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:111264798..111266584-chr3:111268166..111269924,2	K562	blood:
2	chr3:111264050..111266298-chr3:111267284..111269924,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1513322	0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1513325	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276873	0.89[YRI][hapmap]
rs56217549	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56257750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57681416	1.00[ASN][1000 genomes]
rs58464317	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58726643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61645432	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62273542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62273545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62273546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62275476	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62275477	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62275478	0.94[ASN][1000 genomes]
rs73228122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7619313	0.82[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7619498	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs7635078	0.85[CHB][hapmap];1.00[CHD][hapmap]
rs7637867	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7648890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7649385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7653347	0.89[YRI][hapmap]

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	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv997756	chr3:111226058-111376585	Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv3946	chr3:111236035-111283038	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111260200-111269800	Enhancers	Primary hematopoietic stem cells	blood
2	chr3:111265000-111271600	Enhancers	Primary B cells from peripheral blood	blood
3	chr3:111265800-111271600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr3:111267200-111269800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:111267400-111270200	Enhancers	Primary B cells from cord blood	blood
6	chr3:111267400-111271000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr3:111268000-111269600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr3:111268000-111269800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr3:111268000-111269800	Genic enhancers	Fetal Thymus	thymus
10	chr3:111268000-111275000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr3:111268200-111271200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr3:111268200-111271200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr3:111268400-111269600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr3:111268400-111270400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr3:111268400-111272600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr3:111268800-111271600	Genic enhancers	Primary T cells fromperipheralblood	blood
17	chr3:111268800-111275000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr3:111268800-111281400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr3:111269000-111271600	Genic enhancers	Dnd41	blood
20	chr3:111269000-111272600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr3:111269200-111269600	Enhancers	Primary T cells from cord blood	blood
22	chr3:111269200-111269600	Weak transcription	Thymus	Thymus
23	chr3:111269400-111269600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr3:111269400-111273600	Enhancers	Primary T helper naive cells from peripheral blood	blood

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