Variant report

Variant	rs2937731
Chromosome Location	chr5:75637045-75637046
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2055440	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs246795	0.82[EUR][1000 genomes]
rs246797	0.81[EUR][1000 genomes]
rs2937727	0.85[EUR][1000 genomes]
rs2937728	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2937729	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2937730	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2937732	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2937733	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2937734	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2937735	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2937736	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2972841	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv870415	chr5:75526088-75738412	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1032033	chr5:75609686-75646482	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1023310	chr5:75609686-75651786	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3425598	chr5:75610980-75647048	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2757120	chr5:75611597-75642974	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2759352	chr5:75611597-75642974	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1028669	chr5:75611597-75643598	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1020853	chr5:75611597-75651786	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv3362900	chr5:75631096-75637594	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3326642	chr5:75636096-75647694	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75629600-75637800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr5:75629800-75638000	Weak transcription	HepG2	liver
3	chr5:75634000-75637200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:75634200-75637200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:75634200-75637200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:75634200-75637200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:75634200-75637400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr5:75634200-75637600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr5:75634200-75637600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:75634200-75637600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:75634200-75637600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr5:75634200-75637600	Weak transcription	Fetal Stomach	stomach
13	chr5:75634200-75637800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:75634200-75637800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:75634200-75637800	Weak transcription	Primary B cells from cord blood	blood
16	chr5:75634200-75637800	Weak transcription	Pancreas	Pancrea
17	chr5:75634200-75638000	Weak transcription	Fetal Thymus	thymus
18	chr5:75634400-75637200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr5:75634400-75637200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr5:75634400-75637200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:75634400-75637200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:75634400-75637400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:75634400-75637400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr5:75634400-75637400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr5:75634400-75637400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr5:75634400-75637400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr5:75634400-75637600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:75634400-75637600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr5:75634400-75637600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr5:75634400-75637600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr5:75634400-75637800	Weak transcription	Primary T cells from cord blood	blood
32	chr5:75634400-75637800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr5:75634400-75637800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr5:75634400-75637800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr5:75634400-75637800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr5:75634400-75637800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr5:75634400-75637800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr5:75634400-75638000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr5:75634400-75638000	Weak transcription	Esophagus	oesophagus
40	chr5:75634600-75637200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr5:75634600-75637400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr5:75634600-75637600	Weak transcription	Stomach Mucosa	stomach
43	chr5:75634800-75637600	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr5:75636200-75637600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:75636800-75638600	Enhancers	Primary hematopoietic stem cells	blood
46	chr5:75637000-75637400	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr5:75637000-75638600	Enhancers	Primary monocytes fromperipheralblood	blood

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