Variant report

Variant	rs72942830
Chromosome Location	chr2:98459785-98459786
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11892146	1.00[AMR][1000 genomes]
rs11895466	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11898394	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11900781	1.00[AMR][1000 genomes]
rs11900903	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11903844	0.86[AFR][1000 genomes]
rs1503201	1.00[AMR][1000 genomes]
rs1503203	1.00[AMR][1000 genomes]
rs17022209	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17022289	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17022557	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17022726	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17022736	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17025339	1.00[AMR][1000 genomes]
rs2309318	0.86[AFR][1000 genomes]
rs35774346	0.82[AFR][1000 genomes]
rs56065241	1.00[AMR][1000 genomes]
rs57434542	1.00[AMR][1000 genomes]
rs58187838	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60828800	1.00[AMR][1000 genomes]
rs60885334	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61712471	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6543226	1.00[AMR][1000 genomes]
rs6726775	1.00[AMR][1000 genomes]
rs6734701	1.00[AMR][1000 genomes]
rs6736475	1.00[AMR][1000 genomes]
rs6737992	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6742955	0.86[AFR][1000 genomes]
rs6746457	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942824	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942834	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942862	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942871	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942872	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942876	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942882	0.90[AFR][1000 genomes]
rs72942885	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942894	0.82[AFR][1000 genomes]
rs72942896	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942898	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944808	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944812	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944813	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944825	1.00[AMR][1000 genomes]
rs72944834	1.00[AMR][1000 genomes]
rs72944842	1.00[AMR][1000 genomes]
rs72946409	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946410	0.86[AFR][1000 genomes]
rs72946417	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946421	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946425	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946431	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946448	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946453	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7579764	1.00[AFR][1000 genomes];1.00[AMR][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	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009218	chr2:98442640-98816010	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1003925	chr2:98442640-98821102	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv999442	chr2:98448732-98816010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1013902	chr2:98454309-98818080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98406400-98469200	Weak transcription	A549	lung
2	chr2:98409400-98484200	Weak transcription	HUVEC	blood vessel
3	chr2:98409800-98485000	Weak transcription	Hela-S3	cervix
4	chr2:98424000-98475000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:98424200-98461600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:98425600-98461000	Weak transcription	Brain Germinal Matrix	brain
7	chr2:98428000-98466600	Weak transcription	K562	blood
8	chr2:98428600-98461200	Weak transcription	Fetal Brain Male	brain
9	chr2:98428600-98464600	Weak transcription	HSMMtube	muscle
10	chr2:98428800-98485000	Weak transcription	NHLF	lung
11	chr2:98429000-98470600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:98430000-98467800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr2:98431000-98466400	Weak transcription	NH-A	brain
14	chr2:98434200-98484000	Weak transcription	NHDF-Ad	bronchial
15	chr2:98434400-98466400	Weak transcription	Brain Substantia Nigra	brain
16	chr2:98434400-98485800	Weak transcription	Lung	lung
17	chr2:98445200-98459800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr2:98445800-98460000	Strong transcription	Primary B cells from peripheral blood	blood
19	chr2:98446000-98460200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr2:98446000-98475000	Weak transcription	Gastric	stomach
21	chr2:98447400-98465400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:98447600-98461200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:98447800-98461200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:98447800-98466200	Weak transcription	Psoas Muscle	Psoas
25	chr2:98447800-98479600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:98447800-98502800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:98448000-98461200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:98449600-98482000	Weak transcription	Fetal Kidney	kidney
29	chr2:98450600-98460000	Strong transcription	Primary B cells from cord blood	blood
30	chr2:98451800-98466200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:98453200-98459800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:98454400-98460000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:98455400-98459800	Strong transcription	Duodenum Mucosa	Duodenum
34	chr2:98456000-98459800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:98456000-98459800	Strong transcription	Primary T cells from cord blood	blood
36	chr2:98456000-98459800	Strong transcription	Primary hematopoietic stem cells	blood
37	chr2:98456000-98460000	Strong transcription	HSMM	muscle
38	chr2:98456000-98460200	Strong transcription	Fetal Muscle Leg	muscle
39	chr2:98456200-98459800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:98457000-98466400	Weak transcription	Osteobl	bone
41	chr2:98457000-98477400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:98457000-98477400	Weak transcription	Esophagus	oesophagus
43	chr2:98457000-98478000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:98457000-98485600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:98457200-98466200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr2:98457200-98467600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:98457200-98485800	Weak transcription	Brain Anterior Caudate	brain
48	chr2:98457400-98461200	Weak transcription	Fetal Brain Female	brain
49	chr2:98457400-98466600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:98457400-98485800	Weak transcription	Aorta	Aorta

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