Variant report

Variant	rs59729787
Chromosome Location	chr2:101171957-101171958
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	chr2:101170496..101172300-chr2:101184687..101186587,2	K562	blood:

Variant related genes	Relation type
ENSG00000115539	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12151415	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309849	0.92[ASN][1000 genomes]
rs2946595	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34940694	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3748929	0.92[ASN][1000 genomes]
rs56407824	0.87[AMR][1000 genomes]
rs61387584	0.90[ASN][1000 genomes]
rs62155209	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62155214	0.80[AMR][1000 genomes]
rs6705682	0.81[AMR][1000 genomes]
rs6728833	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6728834	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731795	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv582532	chr2:101029002-101531943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv834312	chr2:101044438-101238166	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv961700	chr2:101160858-101173899	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
8	esv2762269	chr2:101163732-101173190	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101170800-101172000	Enhancers	Primary T cells from cord blood	blood
2	chr2:101170800-101172000	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr2:101170800-101173400	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr2:101171000-101172000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr2:101171200-101172000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:101171200-101172000	Enhancers	Duodenum Mucosa	Duodenum
7	chr2:101171200-101172000	Enhancers	K562	blood
8	chr2:101171200-101174000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr2:101171400-101172200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:101171400-101172400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr2:101171600-101172000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:101171600-101172000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:101171600-101172000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr2:101171600-101172200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:101171600-101177000	Weak transcription	GM12878-XiMat	blood
16	chr2:101171800-101172000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr2:101171800-101172200	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr2:101171800-101172200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:101171800-101172600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr2:101171800-101173200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr2:101171800-101173400	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr2:101171800-101178400	Weak transcription	Primary hematopoietic stem cells	blood

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