Variant report

Variant	rs72960679
Chromosome Location	chr2:180837776-180837777
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:180835844..180840154-chr2:180843121..180845736,4	K562	blood:
2	chr2:180836754..180838955-chr2:180849215..180851382,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1046356	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10497555	0.94[ASN][1000 genomes]
rs12613483	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12618422	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12621365	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12623020	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12693216	0.98[ASN][1000 genomes]
rs16823586	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16867114	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16867119	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16867125	0.97[ASN][1000 genomes]
rs16867133	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16867136	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16867140	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs259808	0.94[ASN][1000 genomes]
rs262279	0.92[ASN][1000 genomes]
rs3738943	0.96[ASN][1000 genomes]
rs3768837	1.00[ASN][1000 genomes]
rs3768839	1.00[ASN][1000 genomes]
rs3845695	0.94[ASN][1000 genomes]
rs3845697	0.92[ASN][1000 genomes]
rs3845702	0.93[ASN][1000 genomes]
rs3907347	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3912257	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3914458	0.92[ASN][1000 genomes]
rs4893886	0.99[ASN][1000 genomes]
rs56213876	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6433822	1.00[ASN][1000 genomes]
rs6726846	0.89[ASN][1000 genomes]
rs72958832	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72958838	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72958887	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72960663	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72960669	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72960671	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs818659	0.89[ASN][1000 genomes]
rs9989852	1.00[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	nsv875472	chr2:180696414-181024926	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv875473	chr2:180696414-181055597	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv521134	chr2:180746041-180848488	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1006598	chr2:180766983-180923051	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv531444	chr2:180796233-181434590	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180803400-180843600	Weak transcription	Fetal Brain Male	brain
2	chr2:180807000-180858400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:180808200-180840000	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr2:180808200-180860400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:180809000-180856000	Weak transcription	Fetal Stomach	stomach
6	chr2:180809400-180871000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:180811200-180856200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:180813400-180868200	Weak transcription	Stomach Mucosa	stomach
9	chr2:180816600-180847200	Weak transcription	Hela-S3	cervix
10	chr2:180816800-180841800	Weak transcription	Small Intestine	intestine
11	chr2:180816800-180852800	Weak transcription	Lung	lung
12	chr2:180816800-180860400	Weak transcription	Right Ventricle	heart
13	chr2:180816800-180868400	Weak transcription	Pancreas	Pancrea
14	chr2:180816800-180869000	Weak transcription	Spleen	Spleen
15	chr2:180816800-180870600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:180817200-180860400	Weak transcription	Aorta	Aorta
17	chr2:180817200-180860400	Weak transcription	Gastric	stomach
18	chr2:180817800-180848400	Weak transcription	NHLF	lung
19	chr2:180819000-180845800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:180819000-180871000	Weak transcription	Esophagus	oesophagus
21	chr2:180819200-180844400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:180819600-180843800	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:180821600-180858800	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr2:180822000-180839200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:180822000-180853600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:180822200-180838400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:180822200-180858200	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr2:180822400-180838600	Strong transcription	Liver	Liver
29	chr2:180823400-180870600	Weak transcription	Fetal Intestine Small	intestine
30	chr2:180826200-180840000	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr2:180826200-180853200	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr2:180826600-180838600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:180826600-180838800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr2:180827200-180853400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:180828200-180838800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:180828400-180838400	Strong transcription	HepG2	liver
37	chr2:180828600-180839200	Strong transcription	K562	blood
38	chr2:180829400-180840000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr2:180829400-180846400	Weak transcription	HMEC	breast
40	chr2:180829400-180856000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:180829600-180871200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:180830200-180857600	Weak transcription	Fetal Heart	heart
43	chr2:180830600-180846200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr2:180830600-180848400	Weak transcription	Fetal Brain Female	brain
45	chr2:180830800-180855200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:180830800-180871000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr2:180831000-180838200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr2:180831000-180844200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:180831000-180845800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr2:180831000-180848600	Weak transcription	Brain Angular Gyrus	brain

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