Variant report

Variant	rs983927
Chromosome Location	chr13:80022444-80022445
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:80017886..80019741-chr13:80021356..80023922,2	K562	blood:
2	chr13:80016100..80017751-chr13:80021719..80023913,2	K562	blood:
3	chr13:80020897..80022737-chr13:80024390..80025900,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11549502	0.91[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs11619563	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11839222	1.00[CEU][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12146935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67435118	0.96[EUR][1000 genomes]
rs7321672	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73234690	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs7983516	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7987442	1.00[YRI][hapmap]
rs7990729	0.94[AMR][1000 genomes]
rs9530928	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs9530932	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs9530933	0.92[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs9545115	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9545119	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs9545127	0.91[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs9545130	0.91[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs958316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80010200-80025600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:80016200-80025800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr13:80020200-80024200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:80020600-80023200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr13:80020600-80034000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr13:80020800-80022600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr13:80020800-80022600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr13:80020800-80023200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr13:80020800-80025600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr13:80020800-80025600	Weak transcription	Fetal Thymus	thymus
11	chr13:80021000-80022600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr13:80021000-80022600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr13:80021000-80025400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr13:80021000-80025800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr13:80021400-80025400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr13:80021600-80022600	Weak transcription	Primary T cells from cord blood	blood
17	chr13:80021800-80022800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr13:80022200-80025400	Enhancers	Dnd41	blood
19	chr13:80022200-80026000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr13:80022200-80026000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr13:80022200-80026600	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr13:80022400-80023000	Enhancers	HUVEC	blood vessel
23	chr13:80022400-80024000	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr13:80022400-80026000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr13:80022400-80027200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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