Variant report

Variant	rs73956467
Chromosome Location	chr2:111563022-111563023
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs56238232	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57934984	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58287229	1.00[AMR][1000 genomes]
rs58796451	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73954652	1.00[AMR][1000 genomes]
rs73954653	1.00[AMR][1000 genomes]
rs73954660	1.00[AMR][1000 genomes]
rs73956436	0.83[AFR][1000 genomes]
rs73956442	1.00[AMR][1000 genomes]
rs73956443	1.00[AMR][1000 genomes]
rs73956445	1.00[AMR][1000 genomes]
rs73956446	1.00[AMR][1000 genomes]
rs73956448	1.00[AMR][1000 genomes]
rs73956449	1.00[AMR][1000 genomes]
rs73956450	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956451	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956453	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956454	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956455	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956457	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956458	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956459	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956460	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956461	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956462	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956463	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS 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
3	nsv1008758	chr2:111415136-111626467	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv535890	chr2:111415136-111626467	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv997829	chr2:111486961-111780537	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111531200-111566200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:111552600-111567400	Weak transcription	Right Ventricle	heart
3	chr2:111556800-111569600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:111557800-111571200	Weak transcription	Placenta	Placenta
5	chr2:111559400-111569000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:111560000-111563800	Weak transcription	Fetal Brain Male	brain
7	chr2:111561600-111564400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:111561800-111563600	Strong transcription	H1 Cell Line	embryonic stem cell
9	chr2:111562000-111563200	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr2:111562000-111568400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:111562000-111576400	Weak transcription	Right Atrium	heart
12	chr2:111562200-111564400	Enhancers	Primary B cells from peripheral blood	blood
13	chr2:111562200-111564400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:111562200-111564400	Enhancers	GM12878-XiMat	blood
15	chr2:111562200-111564600	Enhancers	Primary B cells from cord blood	blood
16	chr2:111562200-111564600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:111562400-111563200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:111562400-111563200	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr2:111562400-111563400	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:111562400-111563400	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:111562400-111563400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:111562400-111563600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr2:111562400-111566800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:111562400-111568200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:111562400-111569000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:111562600-111563200	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr2:111562600-111564600	Enhancers	Fetal Muscle Trunk	muscle
28	chr2:111562800-111563200	Enhancers	Liver	Liver
29	chr2:111562800-111563400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:111562800-111563600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:111562800-111564200	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr2:111562800-111564400	Enhancers	Fetal Lung	lung
33	chr2:111562800-111564600	Enhancers	Primary hematopoietic stem cells	blood
34	chr2:111562800-111565400	Enhancers	Fetal Heart	heart
35	chr2:111562800-111567800	Enhancers	Fetal Muscle Leg	muscle
36	chr2:111562800-111604000	Weak transcription	Lung	lung
37	chr2:111563000-111563400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr2:111563000-111564000	Bivalent Enhancer	Fetal Stomach	stomach
39	chr2:111563000-111564600	Enhancers	Fetal Thymus	thymus
40	chr2:111563000-111567600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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