Variant report

Variant	rs2544917
Chromosome Location	chr5:100154692-100154693
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	chr5:100149835..100151666-chr5:100153497..100156405,2	MCF-7	breast:
2	chr5:100128599..100130272-chr5:100154288..100156292,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10515265	1.00[EUR][1000 genomes]
rs10515266	1.00[EUR][1000 genomes]
rs1423381	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17159344	1.00[EUR][1000 genomes]
rs17159370	1.00[EUR][1000 genomes]
rs17159464	1.00[EUR][1000 genomes]
rs17159467	1.00[EUR][1000 genomes]
rs17159519	1.00[EUR][1000 genomes]
rs17159602	1.00[EUR][1000 genomes]
rs17159616	1.00[EUR][1000 genomes]
rs17159626	1.00[EUR][1000 genomes]
rs17160705	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17160732	0.96[AMR][1000 genomes]
rs17160844	0.92[AMR][1000 genomes]
rs17161136	0.85[AMR][1000 genomes]
rs2544911	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2544914	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2544915	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2544916	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2544919	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2548272	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2548275	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2548277	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2561524	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2561525	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2561526	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2561527	0.81[AMR][1000 genomes]
rs2725118	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2725123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3776165	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3776166	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3776172	0.80[ASN][1000 genomes]
rs3776173	0.87[AMR][1000 genomes]
rs3776179	0.82[ASN][1000 genomes]
rs3857364	1.00[EUR][1000 genomes]
rs6595534	0.85[AMR][1000 genomes]
rs6897681	1.00[EUR][1000 genomes]
rs73162282	0.82[ASN][1000 genomes]
rs73775624	1.00[EUR][1000 genomes]
rs768777	1.00[EUR][1000 genomes]
rs980901	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[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	nsv1021183	chr5:99625857-100221426	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1023765	chr5:99915011-100733755	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	esv1834675	chr5:100143084-100535029	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100139400-100155400	Weak transcription	Placenta	Placenta
2	chr5:100143400-100163200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr5:100145800-100164000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr5:100147600-100162000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr5:100147600-100163200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr5:100147600-100218000	Weak transcription	Thymus	Thymus
7	chr5:100147800-100154800	Weak transcription	Primary B cells from cord blood	blood
8	chr5:100147800-100161600	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr5:100147800-100161600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:100147800-100161800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr5:100147800-100163000	Weak transcription	Primary T cells from cord blood	blood
12	chr5:100147800-100163200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr5:100147800-100163800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr5:100147800-100163800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr5:100147800-100179000	Weak transcription	Fetal Thymus	thymus
16	chr5:100148200-100161800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr5:100148200-100163200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr5:100148600-100173200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr5:100150000-100160400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr5:100150400-100161200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr5:100150400-100163400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr5:100152600-100161200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr5:100153400-100158600	Strong transcription	Dnd41	blood
24	chr5:100153800-100163000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr5:100153800-100164000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr5:100154200-100154800	Enhancers	GM12878-XiMat	blood
27	chr5:100154200-100155000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:100154400-100156000	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr5:100154600-100155400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:100154600-100158000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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