Variant report

Variant	rs10177312
Chromosome Location	chr2:100399064-100399065
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100397695..100400616-chr2:100402187..100404284,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10174396	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10185545	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10206307	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10460487	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10460488	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10496341	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13419977	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13433082	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17022813	1.00[EUR][1000 genomes]
rs17023084	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2163043	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28520449	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36003621	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4369915	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6705968	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731353	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6742771	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755935	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6757828	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6761899	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7578030	1.00[EUR][1000 genomes]
rs7604438	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7605228	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2757820	chr2:100380891-100546675	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2759078	chr2:100380891-100546675	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1010971	chr2:100387986-100431935	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100384200-100404400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:100389600-100399400	Weak transcription	Ovary	ovary
3	chr2:100389600-100400800	Weak transcription	Placenta	Placenta
4	chr2:100393800-100404000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:100394000-100403000	Weak transcription	Fetal Brain Female	brain
6	chr2:100394400-100405800	Weak transcription	Lung	lung
7	chr2:100394600-100400400	Weak transcription	Thymus	Thymus
8	chr2:100395000-100403600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:100395600-100402400	Weak transcription	Fetal Brain Male	brain
10	chr2:100396200-100400600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:100396200-100407600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:100396200-100409200	Strong transcription	Primary B cells from cord blood	blood
13	chr2:100397400-100399600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr2:100397400-100399600	Weak transcription	Primary T cells from cord blood	blood
15	chr2:100397400-100409800	Strong transcription	Primary B cells from peripheral blood	blood
16	chr2:100397800-100411400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:100398600-100399400	Enhancers	HepG2	liver
18	chr2:100398600-100399800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:100399000-100399800	Enhancers	Liver	Liver
20	chr2:100399000-100400000	Enhancers	Fetal Lung	lung
21	chr2:100399000-100400800	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr2:100399000-100406000	Weak transcription	Spleen	Spleen

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