Variant report

Variant	rs57665269
Chromosome Location	chr1:187041726-187041727
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:187036170..187037917-chr1:187039466..187042612,3	K562	blood:
2	chr1:187041298..187044019-chr1:187047433..187050031,3	K562	blood:
3	chr1:187029599..187032219-chr1:187038739..187042577,4	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10489411	0.89[ASN][1000 genomes]
rs10911991	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12035489	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12041566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12569046	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16826326	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41367544	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41385946	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4347170	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57347337	0.99[ASN][1000 genomes]
rs57885313	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58234547	0.89[ASN][1000 genomes]
rs59855744	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61360614	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv492108	chr1:186969793-187745761	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv999634	chr1:186979839-187759289	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv535225	chr1:186979839-187759289	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv2762202	chr1:187037211-187055561	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:187041400-187042200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:187041400-187042400	Active TSS	Primary monocytes fromperipheralblood	blood
3	chr1:187041400-187042400	Active TSS	Primary B cells from cord blood	blood
4	chr1:187041400-187042400	Active TSS	Primary hematopoietic stem cells	blood
5	chr1:187041400-187042400	Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr1:187041400-187042400	Active TSS	Thymus	Thymus
7	chr1:187041400-187042600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:187041400-187042600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:187041400-187042600	Active TSS	Primary T cells fromperipheralblood	blood
10	chr1:187041400-187042600	Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr1:187041400-187042600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr1:187041400-187042600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:187041400-187042600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
14	chr1:187041400-187042600	Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr1:187041400-187042600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:187041400-187042600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:187041400-187042600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:187041400-187042600	Active TSS	Fetal Thymus	thymus
19	chr1:187041400-187042600	Active TSS	Dnd41	blood
20	chr1:187041400-187042600	Active TSS	Monocytes-CD14+_RO01746	blood
21	chr1:187041600-187042000	Active TSS	Colonic Mucosa	Colon
22	chr1:187041600-187042000	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr1:187041600-187042200	Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr1:187041600-187042400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:187041600-187042600	Active TSS	Primary B cells from peripheral blood	blood
26	chr1:187041600-187042600	Active TSS	Primary T cells from cord blood	blood
27	chr1:187041600-187042600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:187041600-187042600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr1:187041600-187042600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:187041600-187042600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:187041600-187042600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:187041600-187042600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:187041600-187042600	Active TSS	Adipose Nuclei	Adipose
34	chr1:187041600-187042600	Active TSS	Fetal Muscle Leg	muscle
35	chr1:187041600-187042600	Active TSS	Placenta	Placenta
36	chr1:187041600-187042600	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr1:187041600-187042600	Active TSS	Stomach Smooth Muscle	stomach
38	chr1:187041600-187042600	Active TSS	GM12878-XiMat	blood
39	chr1:187041600-187042600	Active TSS	K562	blood
40	chr1:187041600-187042600	Active TSS	NHDF-Ad	bronchial
41	chr1:187041600-187042800	Active TSS	Primary hematopoietic stem cells short term culture	blood

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