Variant report

Variant	rs559595
Chromosome Location	chr1:93507709-93507710
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93507541..93509653-chr1:93511685..93513516,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10747455	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1764470	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2492899	1.00[AFR][1000 genomes]
rs2492900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2815405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4345812	1.00[AMR][1000 genomes]
rs4361994	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4366327	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4367789	1.00[AMR][1000 genomes]
rs4436402	1.00[AMR][1000 genomes]
rs4466666	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4491068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs473946	1.00[AMR][1000 genomes]
rs4847228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs508180	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs508787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs521360	1.00[AMR][1000 genomes]
rs537410	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs541676	1.00[AMR][1000 genomes]
rs545357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs559455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs574550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs587589	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs593214	1.00[AMR][1000 genomes]
rs595783	1.00[AMR][1000 genomes]
rs596817	1.00[AMR][1000 genomes]
rs614073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs617683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs634127	1.00[AMR][1000 genomes]
rs640481	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs644020	1.00[AMR][1000 genomes]
rs6604036	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs662881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6661632	1.00[AMR][1000 genomes]
rs6690825	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs674982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs678537	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs770880	1.00[AMR][1000 genomes]
rs811286	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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870775	chr1:93481640-93543119	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93499800-93507800	Weak transcription	K562	blood
2	chr1:93500400-93507800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr1:93503800-93507800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:93507400-93508600	Flanking Active TSS	Dnd41	blood
5	chr1:93507400-93508600	Flanking Active TSS	GM12878-XiMat	blood
6	chr1:93507600-93507800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr1:93507600-93507800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:93507600-93507800	Enhancers	Fetal Thymus	thymus
9	chr1:93507600-93507800	Enhancers	Thymus	Thymus
10	chr1:93507600-93507800	Flanking Active TSS	HepG2	liver
11	chr1:93507600-93508000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
12	chr1:93507600-93508000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:93507600-93508000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr1:93507600-93508000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr1:93507600-93508000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:93507600-93508000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:93507600-93508000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr1:93507600-93508000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr1:93507600-93508000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr1:93507600-93508200	Enhancers	Fetal Intestine Small	intestine
21	chr1:93507600-93508400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr1:93507600-93508400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:93507600-93508600	Flanking Active TSS	Primary B cells from peripheral blood	blood
24	chr1:93507600-93508600	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr1:93507600-93508600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr1:93507600-93508600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr1:93507600-93508600	Active TSS	Colonic Mucosa	Colon
28	chr1:93507600-93508600	Active TSS	Fetal Intestine Large	intestine
29	chr1:93507600-93508800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr1:93507600-93508800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:93507600-93508800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr1:93507600-93508800	Flanking Active TSS	Liver	Liver
33	chr1:93507600-93508800	Active TSS	Duodenum Mucosa	Duodenum

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