Variant report

Variant	rs60885334
Chromosome Location	chr2:98435419-98435420
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98426137..98428822-chr2:98433655..98435579,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11892146	1.00[AMR][1000 genomes]
rs11895466	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11898394	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	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1503203	1.00[AMR][1000 genomes]
rs17022209	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17022289	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17022557	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17022726	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17022736	1.00[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	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58187838	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60828800	0.80[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]
rs72942830	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942834	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942836	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942856	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942871	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942872	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942876	0.92[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	0.86[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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946421	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946425	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946431	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946447	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946453	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7579764	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98387800-98438200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:98402000-98440400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:98405800-98459600	Weak transcription	Stomach Mucosa	stomach
4	chr2:98406400-98469200	Weak transcription	A549	lung
5	chr2:98409400-98484200	Weak transcription	HUVEC	blood vessel
6	chr2:98409800-98485000	Weak transcription	Hela-S3	cervix
7	chr2:98410000-98435800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:98410000-98446000	Weak transcription	Colonic Mucosa	Colon
9	chr2:98410000-98456200	Weak transcription	Thymus	Thymus
10	chr2:98410000-98456800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:98410000-98456800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:98410000-98457400	Weak transcription	Small Intestine	intestine
13	chr2:98422000-98436200	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:98422000-98456200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:98423800-98437200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr2:98424000-98438600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:98424000-98442600	Strong transcription	Primary B cells from peripheral blood	blood
18	chr2:98424000-98446800	Weak transcription	Fetal Heart	heart
19	chr2:98424000-98475000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:98424200-98461600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:98424800-98436600	Strong transcription	Primary B cells from cord blood	blood
22	chr2:98425600-98456800	Weak transcription	Esophagus	oesophagus
23	chr2:98425600-98461000	Weak transcription	Brain Germinal Matrix	brain
24	chr2:98426000-98445400	Weak transcription	Gastric	stomach
25	chr2:98426000-98456800	Weak transcription	Right Ventricle	heart
26	chr2:98426200-98435600	Weak transcription	Aorta	Aorta
27	chr2:98426200-98456800	Weak transcription	Pancreas	Pancrea
28	chr2:98426400-98436600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr2:98426400-98437000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:98426400-98456200	Weak transcription	NHEK	skin
31	chr2:98426400-98456800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:98427000-98436000	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr2:98428000-98466600	Weak transcription	K562	blood
34	chr2:98428200-98456600	Weak transcription	Brain Angular Gyrus	brain
35	chr2:98428400-98447400	Weak transcription	Psoas Muscle	Psoas
36	chr2:98428600-98436400	Weak transcription	Spleen	Spleen
37	chr2:98428600-98447400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr2:98428600-98448800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr2:98428600-98456000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr2:98428600-98456600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:98428600-98461200	Weak transcription	Fetal Brain Male	brain
42	chr2:98428600-98464600	Weak transcription	HSMMtube	muscle
43	chr2:98428800-98437600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:98428800-98485000	Weak transcription	NHLF	lung
45	chr2:98429000-98438600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr2:98429000-98470600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr2:98429200-98438400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr2:98429200-98448600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:98429200-98448800	Weak transcription	Fetal Kidney	kidney
50	chr2:98429200-98456600	Weak transcription	Fetal Lung	lung

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