Variant report

Variant	rs61823580
Chromosome Location	chr1:224005398-224005399
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	chr1:223999460..224001439-chr1:224004268..224006826,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10503144	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10915707	0.81[EUR][1000 genomes]
rs10915715	0.83[EUR][1000 genomes]
rs1153965	0.90[EUR][1000 genomes]
rs12046297	0.91[EUR][1000 genomes]
rs12059128	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12059770	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12060361	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12069561	0.81[EUR][1000 genomes]
rs12080250	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12088254	0.96[EUR][1000 genomes]
rs12091841	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1222134	0.81[EUR][1000 genomes]
rs12562109	0.81[EUR][1000 genomes]
rs12563291	0.86[EUR][1000 genomes]
rs12563477	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12563637	0.83[EUR][1000 genomes]
rs12563713	0.87[EUR][1000 genomes]
rs12565967	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12566817	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16842162	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16842229	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16842257	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16842326	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17597	0.86[EUR][1000 genomes]
rs17598	0.81[EUR][1000 genomes]
rs17600	0.81[EUR][1000 genomes]
rs28370069	0.84[EUR][1000 genomes]
rs28370073	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28370074	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28370088	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28370159	0.90[EUR][1000 genomes]
rs28370170	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34683843	0.97[EUR][1000 genomes]
rs36032024	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3738373	0.81[EUR][1000 genomes]
rs3738374	0.81[EUR][1000 genomes]
rs3738375	0.81[EUR][1000 genomes]
rs3767716	0.82[EUR][1000 genomes]
rs3767717	0.81[EUR][1000 genomes]
rs3767718	0.81[EUR][1000 genomes]
rs3885657	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61823581	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61823583	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61823585	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61823587	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61823591	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61824003	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61824005	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61824008	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6604724	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6604727	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6604728	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6604729	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6604730	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6658954	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6665485	0.82[EUR][1000 genomes]
rs6678365	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6682964	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6685557	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6691315	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6694960	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6700366	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7331	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7528455	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7530328	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7533551	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7535882	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	esv3340448	chr1:224003954-224006502	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
9	esv3404114	chr1:224004579-224005727	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223960200-224025400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:223964400-224008000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:223988200-224012000	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:223990600-224007000	Weak transcription	Fetal Brain Male	brain
5	chr1:223991200-224007400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:223991200-224007400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:223991200-224010800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:223991400-224007600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:223993400-224008400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:223994600-224007000	Weak transcription	Colonic Mucosa	Colon
11	chr1:223994600-224008200	Weak transcription	Psoas Muscle	Psoas
12	chr1:223995800-224009400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:223996000-224007600	Weak transcription	Hela-S3	cervix
14	chr1:223999600-224007800	Weak transcription	Brain Angular Gyrus	brain
15	chr1:223999800-224010800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:224000200-224007400	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:224001000-224010000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:224001400-224007600	Weak transcription	Brain Germinal Matrix	brain
19	chr1:224001400-224008400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:224001600-224006800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:224001800-224010600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr1:224001800-224010800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr1:224002000-224005600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr1:224002000-224005800	Weak transcription	Fetal Stomach	stomach
25	chr1:224002000-224006800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:224002000-224006800	Weak transcription	Adipose Nuclei	Adipose
27	chr1:224002000-224006800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr1:224002000-224007600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr1:224002000-224007600	Weak transcription	Fetal Kidney	kidney
30	chr1:224002000-224007600	Weak transcription	Lung	lung
31	chr1:224002000-224007600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr1:224002000-224008200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:224002000-224008200	Weak transcription	Spleen	Spleen
34	chr1:224002000-224008400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr1:224002000-224015000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:224002000-224023800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:224002200-224005400	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr1:224002200-224005600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr1:224002200-224005600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:224002200-224005600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:224002200-224006800	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr1:224002200-224007000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr1:224002200-224007000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr1:224002200-224007000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:224002200-224007200	Weak transcription	Fetal Brain Female	brain
46	chr1:224002200-224007600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:224002200-224007800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr1:224002200-224008000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr1:224002200-224013000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr1:224002200-224020200	Weak transcription	Placenta	Placenta

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