Variant report

Variant	rs12513594
Chromosome Location	chr5:75852426-75852427
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10462543	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12513400	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12513678	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12519094	0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12519329	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12519473	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12521026	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12523647	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1566	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17680732	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17680756	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17680811	0.92[ASN][1000 genomes]
rs2270908	0.80[AMR][1000 genomes]
rs3756514	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3912001	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4703713	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4704329	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4704340	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs55699952	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs56338424	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58087114	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60881227	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61014011	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61233297	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs869733	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs873787	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs879017	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022032	chr5:75785106-75914003	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv598679	chr5:75823965-75914729	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1023953	chr5:75831037-75913784	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1026257	chr5:75831037-75914003	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1016823	chr5:75831037-75915905	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv598680	chr5:75839165-75914729	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75835600-75871200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:75843800-75884400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:75844200-75854000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr5:75844200-75854400	Weak transcription	Fetal Stomach	stomach
5	chr5:75844200-75855400	Weak transcription	Primary T cells from cord blood	blood
6	chr5:75844400-75860400	Weak transcription	Placenta	Placenta
7	chr5:75844800-75857200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr5:75844800-75857400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr5:75845000-75852800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:75845000-75856400	Weak transcription	Liver	Liver
11	chr5:75845000-75858200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr5:75845400-75876600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr5:75845600-75857200	Weak transcription	Gastric	stomach
14	chr5:75846200-75852600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr5:75846800-75902600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr5:75848600-75857000	Weak transcription	Stomach Mucosa	stomach
17	chr5:75849800-75857200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr5:75850400-75852600	Enhancers	GM12878-XiMat	blood
19	chr5:75850400-75853200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr5:75851000-75853000	Enhancers	Primary hematopoietic stem cells	blood
21	chr5:75851200-75853000	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr5:75851200-75853200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:75851600-75852800	Genic enhancers	Primary T cells fromperipheralblood	blood
24	chr5:75851600-75861200	Weak transcription	Thymus	Thymus
25	chr5:75851800-75852600	Weak transcription	Pancreas	Pancrea
26	chr5:75851800-75853400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr5:75851800-75857200	Weak transcription	Esophagus	oesophagus
28	chr5:75851800-75858000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr5:75851800-75860200	Weak transcription	HepG2	liver
30	chr5:75851800-75892000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr5:75852000-75852600	Enhancers	K562	blood
32	chr5:75852000-75864400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr5:75852200-75852800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr5:75852200-75853000	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr5:75852200-75853200	Enhancers	Primary B cells from peripheral blood	blood
36	chr5:75852200-75853200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:75852200-75853400	Enhancers	Primary B cells from cord blood	blood
38	chr5:75852400-75852600	Weak transcription	Fetal Intestine Small	intestine
39	chr5:75852400-75852800	Enhancers	H9 Cell Line	embryonic stem cell
40	chr5:75852400-75852800	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr5:75852400-75852800	Enhancers	Small Intestine	intestine
42	chr5:75852400-75853200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr5:75852400-75853200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr5:75852400-75853400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr5:75852400-75855800	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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