Variant report

Variant	rs72942873
Chromosome Location	chr2:98515750-98515751
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2290123	1.00[AMR][1000 genomes]
rs58184071	1.00[AMR][1000 genomes]
rs58332522	0.87[AFR][1000 genomes]
rs58738348	1.00[AMR][1000 genomes]
rs61043662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6542982	1.00[AMR][1000 genomes]
rs6543062	0.87[AFR][1000 genomes]
rs6716208	1.00[AMR][1000 genomes]
rs6720119	1.00[AMR][1000 genomes]
rs6725198	1.00[AMR][1000 genomes]
rs6743285	1.00[AMR][1000 genomes]
rs6753752	1.00[AMR][1000 genomes]
rs72942846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944402	0.90[AFR][1000 genomes]
rs72944839	0.82[AFR][1000 genomes]
rs72946404	0.96[AFR][1000 genomes]
rs72946446	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946451	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949085	1.00[AMR][1000 genomes]
rs72949092	1.00[AMR][1000 genomes]
rs72949095	1.00[AMR][1000 genomes]
rs72951139	0.87[AFR][1000 genomes]
rs72951143	0.87[AFR][1000 genomes]
rs72951144	0.87[AFR][1000 genomes]
rs72951153	0.87[AFR][1000 genomes]
rs72951165	0.90[AFR][1000 genomes]
rs72951167	0.84[AFR][1000 genomes]
rs7608385	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
10	nsv1013416	chr2:98472701-98688729	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98503600-98522800	Weak transcription	HUVEC	blood vessel
2	chr2:98503800-98516400	Weak transcription	HMEC	breast
3	chr2:98503800-98517200	Weak transcription	HSMM	muscle
4	chr2:98503800-98522600	Weak transcription	Fetal Kidney	kidney
5	chr2:98503800-98522800	Weak transcription	K562	blood
6	chr2:98503800-98524800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:98503800-98528600	Weak transcription	NHDF-Ad	bronchial
8	chr2:98503800-98536400	Weak transcription	HSMMtube	muscle
9	chr2:98504000-98521800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:98504000-98521800	Weak transcription	Fetal Lung	lung
11	chr2:98504000-98522000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:98504000-98522200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:98504000-98522400	Weak transcription	Primary B cells from cord blood	blood
14	chr2:98504000-98522800	Weak transcription	Fetal Brain Female	brain
15	chr2:98504000-98523000	Weak transcription	Psoas Muscle	Psoas
16	chr2:98504000-98523600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:98504000-98528000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:98504000-98533800	Weak transcription	Spleen	Spleen
19	chr2:98504000-98538800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:98504000-98540600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:98504000-98540800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:98504200-98517600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:98504200-98519200	Weak transcription	Gastric	stomach
24	chr2:98504200-98522200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:98504200-98522200	Weak transcription	Fetal Stomach	stomach
26	chr2:98504200-98522200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr2:98504200-98522400	Weak transcription	Ovary	ovary
28	chr2:98504200-98522800	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:98504200-98523000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:98504200-98523000	Weak transcription	Left Ventricle	heart
31	chr2:98504200-98525400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:98504200-98530800	Weak transcription	Thymus	Thymus
33	chr2:98504400-98522000	Weak transcription	Placenta	Placenta
34	chr2:98504400-98522800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr2:98504400-98527000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:98504600-98521600	Weak transcription	Osteobl	bone
37	chr2:98504600-98522000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:98504600-98522200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:98504600-98522200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:98504600-98522400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:98504600-98522400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:98504600-98522400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr2:98504600-98522400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:98504600-98522800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:98504600-98523000	Weak transcription	Brain Hippocampus Middle	brain
46	chr2:98504600-98523000	Weak transcription	Dnd41	blood
47	chr2:98504600-98523200	Weak transcription	Liver	Liver
48	chr2:98504600-98524200	Weak transcription	Adipose Nuclei	Adipose
49	chr2:98504600-98524200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr2:98504600-98525600	Weak transcription	Duodenum Mucosa	Duodenum

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