Variant report

Variant	rs2367990
Chromosome Location	chr2:180843126-180843127
allele	C/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:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12465592	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12468986	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12693214	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12693215	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16867131	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1904850	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs259810	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs259811	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2678936	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3843323	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3845701	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3856415	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56401468	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6433816	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6433818	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6433820	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6433821	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6722147	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6727890	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6733426	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6744281	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6759271	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72958863	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72960660	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72960664	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72960701	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72962517	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72962575	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs818661	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9288045	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][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:123 , 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	chr2:180808200-180860400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:180809000-180856000	Weak transcription	Fetal Stomach	stomach
5	chr2:180809400-180871000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:180811200-180856200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:180813400-180868200	Weak transcription	Stomach Mucosa	stomach
8	chr2:180816600-180847200	Weak transcription	Hela-S3	cervix
9	chr2:180816800-180852800	Weak transcription	Lung	lung
10	chr2:180816800-180860400	Weak transcription	Right Ventricle	heart
11	chr2:180816800-180868400	Weak transcription	Pancreas	Pancrea
12	chr2:180816800-180869000	Weak transcription	Spleen	Spleen
13	chr2:180816800-180870600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:180817200-180860400	Weak transcription	Aorta	Aorta
15	chr2:180817200-180860400	Weak transcription	Gastric	stomach
16	chr2:180817800-180848400	Weak transcription	NHLF	lung
17	chr2:180819000-180845800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:180819000-180871000	Weak transcription	Esophagus	oesophagus
19	chr2:180819200-180844400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:180819600-180843800	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:180821600-180858800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr2:180822000-180853600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:180822200-180858200	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr2:180823400-180870600	Weak transcription	Fetal Intestine Small	intestine
25	chr2:180826200-180853200	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr2:180827200-180853400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:180829400-180846400	Weak transcription	HMEC	breast
28	chr2:180829400-180856000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:180829600-180871200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:180830200-180857600	Weak transcription	Fetal Heart	heart
31	chr2:180830600-180846200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr2:180830600-180848400	Weak transcription	Fetal Brain Female	brain
33	chr2:180830800-180855200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:180830800-180871000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr2:180831000-180844200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:180831000-180845800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:180831000-180848600	Weak transcription	Brain Angular Gyrus	brain
38	chr2:180831000-180855800	Weak transcription	Thymus	Thymus
39	chr2:180831000-180856000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:180831000-180860400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr2:180832200-180853600	Strong transcription	Primary B cells from peripheral blood	blood
42	chr2:180832400-180848000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:180832400-180855800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr2:180832800-180848000	Weak transcription	HSMMtube	muscle
45	chr2:180832800-180860200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr2:180834200-180858200	Strong transcription	Primary B cells from cord blood	blood
47	chr2:180835000-180845800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr2:180835400-180844600	Weak transcription	Brain Substantia Nigra	brain
49	chr2:180835600-180843600	Weak transcription	Brain Hippocampus Middle	brain
50	chr2:180835600-180843600	Weak transcription	Fetal Muscle Trunk	muscle

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