Variant report

Variant	rs2544916
Chromosome Location	chr5:100158495-100158496
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:100157247..100161325-chr5:100161571..100164994,4	MCF-7	breast:
2	chr5:100150270..100152033-chr5:100157955..100159710,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1423381	0.96[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17160705	0.96[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17160732	0.94[AMR][1000 genomes]
rs17160844	0.90[AMR][1000 genomes]
rs17161136	0.83[AMR][1000 genomes]
rs2544911	0.96[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2544914	0.96[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2544915	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2544917	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2544919	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2548272	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2548275	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2548277	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2561524	0.96[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2561525	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2561526	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2725118	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2725123	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3776165	0.96[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3776166	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3776173	0.85[AMR][1000 genomes]
rs6595534	0.83[AMR][1000 genomes]
rs980901	0.94[AMR][1000 genomes];0.83[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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100143400-100163200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr5:100145800-100164000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr5:100147600-100162000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr5:100147600-100163200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr5:100147600-100218000	Weak transcription	Thymus	Thymus
6	chr5:100147800-100161600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr5:100147800-100161600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr5:100147800-100161800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr5:100147800-100163000	Weak transcription	Primary T cells from cord blood	blood
10	chr5:100147800-100163200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:100147800-100163800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr5:100147800-100163800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr5:100147800-100179000	Weak transcription	Fetal Thymus	thymus
14	chr5:100148200-100161800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr5:100148200-100163200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr5:100148600-100173200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr5:100150000-100160400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr5:100150400-100161200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr5:100150400-100163400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr5:100152600-100161200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr5:100153400-100158600	Strong transcription	Dnd41	blood
22	chr5:100153800-100163000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr5:100153800-100164000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr5:100155000-100161800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:100155400-100159200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:100156000-100160400	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr5:100156000-100163600	Weak transcription	Primary B cells from cord blood	blood
28	chr5:100156400-100159000	ZNF genes & repeats	GM12878-XiMat	blood
29	chr5:100157400-100163400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr5:100158000-100158600	Enhancers	A549	lung
31	chr5:100158000-100160000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:100158400-100158800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr5:100158400-100158800	Active TSS	Placenta	Placenta
34	chr5:100158400-100159000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr5:100158400-100159000	Weak transcription	Placenta Amnion	Placenta Amnion

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