Variant report

Variant	rs6668784
Chromosome Location	chr1:221954793-221954794
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10746414	1.00[CHB][hapmap]
rs10863657	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118849	0.85[EUR][1000 genomes]
rs11118851	0.85[EUR][1000 genomes]
rs11118874	1.00[ASN][1000 genomes]
rs11118883	1.00[CHB][hapmap]
rs11576121	0.85[EUR][1000 genomes]
rs11577023	1.00[CHB][hapmap]
rs11579490	1.00[ASN][1000 genomes]
rs11582814	1.00[CHB][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12083393	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12089785	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12090948	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12095068	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118052	1.00[ASN][1000 genomes]
rs12125690	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4290069	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4384245	1.00[ASN][1000 genomes]
rs4581289	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56010022	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57222604	0.88[EUR][1000 genomes]
rs58058349	0.85[EUR][1000 genomes]
rs58969712	0.85[EUR][1000 genomes]
rs60950693	0.84[EUR][1000 genomes]
rs61696703	0.88[EUR][1000 genomes]
rs6604677	1.00[ASN][1000 genomes]
rs6604678	1.00[ASN][1000 genomes]
rs6658977	1.00[ASN][1000 genomes]
rs6659311	1.00[ASN][1000 genomes]
rs66698149	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6691170	1.00[ASN][1000 genomes]
rs66916558	0.88[EUR][1000 genomes]
rs6701025	0.85[EUR][1000 genomes]
rs67087803	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67220535	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67299058	0.86[EUR][1000 genomes]
rs72736571	0.85[EUR][1000 genomes]
rs7550628	1.00[ASN][1000 genomes]
rs7556214	1.00[ASN][1000 genomes]
rs7556228	1.00[ASN][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	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv1007092	chr1:221883491-221958279	Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv535303	chr1:221883491-221958279	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221948800-221955000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:221948800-221958200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:221949000-221955000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr1:221949400-221958000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:221949600-221954800	Enhancers	Primary hematopoietic stem cells	blood
6	chr1:221949600-221954800	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr1:221949800-221958200	Enhancers	Primary T cells fromperipheralblood	blood
8	chr1:221950000-221956800	Enhancers	Fetal Thymus	thymus
9	chr1:221950600-221955600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:221951800-221958000	Enhancers	Primary B cells from cord blood	blood
11	chr1:221952000-221955000	Enhancers	Primary B cells from peripheral blood	blood
12	chr1:221952000-221958000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr1:221953200-221956200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr1:221953200-221956600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:221953200-221958000	Enhancers	GM12878-XiMat	blood
16	chr1:221953400-221956000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:221953400-221956200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:221953600-221956600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:221953800-221955200	Weak transcription	Dnd41	blood
20	chr1:221953800-221956000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr1:221953800-221956400	Enhancers	Adipose Nuclei	Adipose
22	chr1:221954000-221955000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:221954000-221955000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr1:221954000-221955200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:221954000-221956000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:221954000-221966400	Weak transcription	Spleen	Spleen
27	chr1:221954200-221955600	Enhancers	Lung	lung
28	chr1:221954200-221955800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:221954400-221954800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:221954400-221954800	Enhancers	K562	blood
31	chr1:221954400-221955400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr1:221954400-221955800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:221954600-221955400	Weak transcription	Primary T cells from cord blood	blood
34	chr1:221954600-221955800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr1:221954600-221956800	Enhancers	Thymus	Thymus

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