Variant report

Variant	rs59047714
Chromosome Location	chr5:75634542-75634543
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	chr5:75633439..75636286-chr5:75698439..75700729,3	K562	blood:

Variant related genes	Relation type
ENSG00000145703	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11954110	0.82[AFR][1000 genomes]
rs11954779	0.82[AFR][1000 genomes]
rs55712299	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60514411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60691295	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73764330	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73764331	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73764332	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73764346	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73764347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73764349	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	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

No data

Chromatin state (count:49 , 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	chr5:75633400-75634600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr5:75633400-75634600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:75633400-75634600	Enhancers	Stomach Mucosa	stomach
6	chr5:75633400-75634800	Enhancers	Primary T cells fromperipheralblood	blood
7	chr5:75633600-75634800	Enhancers	Placenta	Placenta
8	chr5:75634000-75637200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:75634200-75635800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:75634200-75637000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr5:75634200-75637200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:75634200-75637200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr5:75634200-75637200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:75634200-75637400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr5:75634200-75637600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr5:75634200-75637600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:75634200-75637600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:75634200-75637600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:75634200-75637600	Weak transcription	Fetal Stomach	stomach
20	chr5:75634200-75637800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr5:75634200-75637800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr5:75634200-75637800	Weak transcription	Primary B cells from cord blood	blood
23	chr5:75634200-75637800	Weak transcription	Pancreas	Pancrea
24	chr5:75634200-75638000	Weak transcription	Fetal Thymus	thymus
25	chr5:75634400-75635400	Weak transcription	K562	blood
26	chr5:75634400-75636200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr5:75634400-75637000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr5:75634400-75637200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr5:75634400-75637200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr5:75634400-75637200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:75634400-75637200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:75634400-75637400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr5:75634400-75637400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr5:75634400-75637400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr5:75634400-75637400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr5:75634400-75637400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr5:75634400-75637600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr5:75634400-75637600	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr5:75634400-75637600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr5:75634400-75637600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr5:75634400-75637800	Weak transcription	Primary T cells from cord blood	blood
42	chr5:75634400-75637800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr5:75634400-75637800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr5:75634400-75637800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr5:75634400-75637800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr5:75634400-75637800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr5:75634400-75637800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr5:75634400-75638000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr5:75634400-75638000	Weak transcription	Esophagus	oesophagus

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