Variant report

Variant	rs1904850
Chromosome Location	chr2:180852767-180852768
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12465592	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12468986	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12693214	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12693215	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16867131	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2367990	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs259810	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs259811	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2678936	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3843323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3845701	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3856415	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56401468	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6433816	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6433818	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6433820	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6433821	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6722147	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6727890	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6733426	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6744281	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6759271	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72958863	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72960660	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72960664	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72960701	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72962517	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72962575	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs818661	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9288045	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
4	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180807000-180858400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:180808200-180860400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:180809000-180856000	Weak transcription	Fetal Stomach	stomach
4	chr2:180809400-180871000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:180811200-180856200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:180813400-180868200	Weak transcription	Stomach Mucosa	stomach
7	chr2:180816800-180852800	Weak transcription	Lung	lung
8	chr2:180816800-180860400	Weak transcription	Right Ventricle	heart
9	chr2:180816800-180868400	Weak transcription	Pancreas	Pancrea
10	chr2:180816800-180869000	Weak transcription	Spleen	Spleen
11	chr2:180816800-180870600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:180817200-180860400	Weak transcription	Aorta	Aorta
13	chr2:180817200-180860400	Weak transcription	Gastric	stomach
14	chr2:180819000-180871000	Weak transcription	Esophagus	oesophagus
15	chr2:180821600-180858800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr2:180822000-180853600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:180822200-180858200	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr2:180823400-180870600	Weak transcription	Fetal Intestine Small	intestine
19	chr2:180826200-180853200	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr2:180827200-180853400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:180829400-180856000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:180829600-180871200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:180830200-180857600	Weak transcription	Fetal Heart	heart
24	chr2:180830800-180855200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:180830800-180871000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr2:180831000-180855800	Weak transcription	Thymus	Thymus
27	chr2:180831000-180856000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:180831000-180860400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr2:180832200-180853600	Strong transcription	Primary B cells from peripheral blood	blood
30	chr2:180832400-180855800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:180832800-180860200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:180834200-180858200	Strong transcription	Primary B cells from cord blood	blood
33	chr2:180836800-180870400	Weak transcription	A549	lung
34	chr2:180838200-180854200	Strong transcription	Primary hematopoietic stem cells	blood
35	chr2:180839400-180853400	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr2:180839600-180853000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:180839800-180870400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr2:180840200-180853000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:180840200-180853800	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr2:180840200-180855800	Weak transcription	NHEK	skin
41	chr2:180840400-180853600	Strong transcription	Liver	Liver
42	chr2:180840400-180855600	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:180840600-180853800	Strong transcription	Adipose Nuclei	Adipose
44	chr2:180840600-180858200	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr2:180840600-180858200	Strong transcription	Dnd41	blood
46	chr2:180840800-180853400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr2:180841000-180858200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:180841600-180853800	Strong transcription	Fetal Thymus	thymus
49	chr2:180841600-180854000	Strong transcription	Placenta	Placenta
50	chr2:180841800-180853400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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