Variant report

Variant	rs73159988
Chromosome Location	chr5:100197223-100197224
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	chr5:100195122..100197520-chr5:100238576..100241396,2	K562	blood:

Variant related genes	Relation type
ENSG00000113532	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11958370	1.00[EUR][1000 genomes]
rs17161227	1.00[EUR][1000 genomes]
rs17161238	1.00[EUR][1000 genomes]
rs2548271	1.00[EUR][1000 genomes]
rs57030195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57051501	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57093790	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57165646	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57408442	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58460894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58972341	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59107693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59522996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61509083	1.00[EUR][1000 genomes]
rs61550483	1.00[EUR][1000 genomes]
rs6878351	1.00[EUR][1000 genomes]
rs6878887	1.00[EUR][1000 genomes]
rs6879241	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73157721	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73157724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73157726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73157755	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73157793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73159945	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73159969	1.00[EUR][1000 genomes]
rs73159973	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73159981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73159982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73159986	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73159991	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73160414	1.00[EUR][1000 genomes]
rs73160421	1.00[EUR][1000 genomes]
rs73160425	1.00[EUR][1000 genomes]
rs73160500	1.00[EUR][1000 genomes]
rs73160501	1.00[EUR][1000 genomes]
rs73162260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162268	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162273	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162274	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162277	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162285	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162291	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162294	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162302	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162409	1.00[EUR][1000 genomes]
rs73162427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162447	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73163618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73163629	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73163634	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73163646	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73163652	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73167380	1.00[AMR][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	chr5:100147600-100218000	Weak transcription	Thymus	Thymus
2	chr5:100177600-100215400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:100178200-100218400	Weak transcription	Placenta	Placenta
4	chr5:100187000-100199200	Weak transcription	Lung	lung
5	chr5:100190800-100198400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:100191200-100198200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:100191200-100224400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr5:100191200-100225200	Weak transcription	Fetal Lung	lung
9	chr5:100191400-100208200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr5:100191400-100212200	Weak transcription	HUVEC	blood vessel
11	chr5:100192000-100198400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr5:100192000-100205800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr5:100192000-100208200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:100192200-100198200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr5:100192200-100198400	Weak transcription	Fetal Thymus	thymus
16	chr5:100192400-100198400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr5:100193800-100199200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:100194200-100197400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:100194600-100218200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr5:100194800-100198200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr5:100194800-100198600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:100194800-100208200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr5:100194800-100208600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr5:100195000-100220400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr5:100195400-100197800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr5:100195800-100197400	Strong transcription	Dnd41	blood
27	chr5:100196000-100197400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr5:100196400-100198000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr5:100196400-100198000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr5:100196600-100198400	Weak transcription	Primary T cells from cord blood	blood
31	chr5:100196600-100198600	Weak transcription	Primary B cells from cord blood	blood
32	chr5:100197000-100197400	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr5:100197000-100198000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr5:100197200-100197400	Weak transcription	GM12878-XiMat	blood
35	chr5:100197200-100198000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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