Variant report

Variant	rs72942862
Chromosome Location	chr2:98505045-98505046
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
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]
rs60885334	1.00[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]
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: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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98500800-98505400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:98501200-98505200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
3	chr2:98502600-98505400	ZNF genes & repeats	GM12878-XiMat	blood
4	chr2:98503400-98505200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:98503400-98505800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:98503600-98509000	Weak transcription	Small Intestine	intestine
7	chr2:98503600-98522800	Weak transcription	HUVEC	blood vessel
8	chr2:98503800-98505400	Strong transcription	Primary B cells from peripheral blood	blood
9	chr2:98503800-98505400	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr2:98503800-98505400	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:98503800-98505800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr2:98503800-98508000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:98503800-98508200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:98503800-98508800	Weak transcription	Brain Substantia Nigra	brain
15	chr2:98503800-98509000	Weak transcription	Stomach Mucosa	stomach
16	chr2:98503800-98509800	Weak transcription	NH-A	brain
17	chr2:98503800-98516400	Weak transcription	HMEC	breast
18	chr2:98503800-98517200	Weak transcription	HSMM	muscle
19	chr2:98503800-98522600	Weak transcription	Fetal Kidney	kidney
20	chr2:98503800-98522800	Weak transcription	K562	blood
21	chr2:98503800-98524800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr2:98503800-98528600	Weak transcription	NHDF-Ad	bronchial
23	chr2:98503800-98536400	Weak transcription	HSMMtube	muscle
24	chr2:98504000-98505200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:98504000-98505400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:98504000-98505400	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr2:98504000-98505400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr2:98504000-98505400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr2:98504000-98505800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr2:98504000-98505800	Weak transcription	A549	lung
31	chr2:98504000-98506400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:98504000-98506400	Strong transcription	Primary hematopoietic stem cells	blood
33	chr2:98504000-98506400	Weak transcription	Aorta	Aorta
34	chr2:98504000-98506400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:98504000-98507400	Weak transcription	Brain Anterior Caudate	brain
36	chr2:98504000-98507600	Weak transcription	Fetal Thymus	thymus
37	chr2:98504000-98507800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:98504000-98507800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr2:98504000-98507800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr2:98504000-98508400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:98504000-98508800	Weak transcription	Pancreas	Pancrea
42	chr2:98504000-98508800	Weak transcription	Right Ventricle	heart
43	chr2:98504000-98521800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr2:98504000-98521800	Weak transcription	Fetal Lung	lung
45	chr2:98504000-98522000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:98504000-98522200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:98504000-98522400	Weak transcription	Primary B cells from cord blood	blood
48	chr2:98504000-98522800	Weak transcription	Fetal Brain Female	brain
49	chr2:98504000-98523000	Weak transcription	Psoas Muscle	Psoas
50	chr2:98504000-98523600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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