Variant report

Variant	rs7726964
Chromosome Location	chr5:50143017-50143018
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16884480	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16884740	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16884749	1.00[AMR][1000 genomes]
rs16885310	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16885316	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3909476	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs3991807	1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462159	chr5:49960673-50229851	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv598108	chr5:49960673-50229851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1034445	chr5:49986171-50492609	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv598116	chr5:50064292-50318550	Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr5:50110400-50143400	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr5:50110400-50143600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr5:50119200-50144200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:50124200-50145200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:50125200-50143200	Weak transcription	Left Ventricle	heart
6	chr5:50125400-50149200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:50125800-50143200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr5:50126400-50143200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:50129200-50148400	Weak transcription	GM12878-XiMat	blood
10	chr5:50132600-50148400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr5:50133400-50150000	Weak transcription	Adipose Nuclei	Adipose
12	chr5:50138600-50144400	Weak transcription	Liver	Liver
13	chr5:50139200-50143400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:50140000-50143400	Weak transcription	Primary T cells from cord blood	blood
15	chr5:50140000-50143400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:50140000-50144400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr5:50140200-50148600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:50140600-50148200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr5:50140800-50143200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr5:50140800-50143200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr5:50141400-50152400	Weak transcription	Dnd41	blood
22	chr5:50141600-50147600	Weak transcription	Primary B cells from cord blood	blood
23	chr5:50141600-50152800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr5:50141800-50143800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr5:50141800-50147800	Weak transcription	Monocytes-CD14+_RO01746	blood

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