Variant report

Variant	rs4562598
Chromosome Location	chr1:192578636-192578637
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10489878	1.00[ASN][1000 genomes]
rs10921176	1.00[EUR][1000 genomes]
rs1418719	1.00[CEU][hapmap]
rs16834594	1.00[CEU][hapmap]
rs16834852	1.00[CEU][hapmap]
rs2296022	1.00[CEU][hapmap]
rs2296023	1.00[CEU][hapmap]
rs4325109	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4658062	1.00[CHD][hapmap]
rs4658065	1.00[CEU][hapmap];1.00[CHD][hapmap]
rs57851136	1.00[EUR][1000 genomes]
rs60569899	1.00[EUR][1000 genomes]
rs6700053	1.00[CHD][hapmap]
rs6703926	1.00[CHD][hapmap]
rs73060132	1.00[EUR][1000 genomes]
rs73060134	1.00[EUR][1000 genomes]
rs73060137	1.00[EUR][1000 genomes]
rs73060138	1.00[EUR][1000 genomes]
rs73060140	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73060146	1.00[EUR][1000 genomes]
rs73060161	1.00[EUR][1000 genomes]
rs73060162	1.00[EUR][1000 genomes]
rs73060163	1.00[EUR][1000 genomes]
rs73060166	1.00[EUR][1000 genomes]
rs74130669	1.00[EUR][1000 genomes]
rs7413087	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7535318	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv467005	chr1:192549912-192625360	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv548659	chr1:192549912-192625360	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr1:192572600-192578800	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:192575000-192583800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:192577000-192579200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:192577000-192580000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr1:192577600-192579200	Enhancers	Primary hematopoietic stem cells	blood
6	chr1:192577600-192579200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr1:192577600-192579200	Flanking Active TSS	GM12878-XiMat	blood
8	chr1:192577600-192579800	Weak transcription	Fetal Intestine Small	intestine
9	chr1:192577800-192578800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:192577800-192579000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr1:192577800-192579200	Enhancers	Primary B cells from peripheral blood	blood
12	chr1:192577800-192579200	Enhancers	Primary T cells fromperipheralblood	blood
13	chr1:192577800-192579200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:192578000-192579000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr1:192578000-192579200	Flanking Active TSS	Dnd41	blood
16	chr1:192578200-192578800	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr1:192578200-192578800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:192578200-192578800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr1:192578200-192579000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:192578200-192579000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:192578200-192579000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:192578200-192579000	Enhancers	Fetal Thymus	thymus
23	chr1:192578200-192579000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr1:192578200-192579200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:192578400-192578800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr1:192578400-192580000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:192578600-192578800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr1:192578600-192579000	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr1:192578600-192579000	Enhancers	Primary T cells from cord blood	blood
30	chr1:192578600-192579000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr1:192578600-192579000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:192578600-192579200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr1:192578600-192579600	Weak transcription	HSMM	muscle
34	chr1:192578600-192579800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr1:192578600-192580200	Enhancers	Hela-S3	cervix

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