Variant report

Variant	rs31976
Chromosome Location	chr5:14599373-14599374
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	chr5:14584725..14587158-chr5:14598322..14600170,2	K562	blood:
2	chr5:14593999..14595802-chr5:14598575..14600793,2	K562	blood:

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

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

rs_ID	r²[population]
rs13172589	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs149196	0.93[EUR][1000 genomes]
rs149197	0.95[EUR][1000 genomes]
rs149389	1.00[YRI][hapmap]
rs152621	0.93[ASN][1000 genomes]
rs152717	0.87[EUR][1000 genomes]
rs152765	0.93[ASN][1000 genomes]
rs153819	0.93[EUR][1000 genomes]
rs153823	0.91[EUR][1000 genomes]
rs153824	0.93[EUR][1000 genomes]
rs171652	0.90[EUR][1000 genomes]
rs2455395	0.93[EUR][1000 genomes]
rs25958	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs25959	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs25960	0.98[ASN][1000 genomes]
rs26172	0.90[ASN][1000 genomes]
rs26177	1.00[ASN][1000 genomes]
rs26179	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs27354	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs31971	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs31972	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs31973	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs31974	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs31975	0.98[ASN][1000 genomes]
rs36103605	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs457897	0.96[EUR][1000 genomes]
rs468184	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv830211	chr5:14474675-14675776	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1032951	chr5:14529579-14667342	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 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	chr5:14585800-14605000	Weak transcription	Fetal Intestine Small	intestine
2	chr5:14586000-14602600	Weak transcription	Fetal Intestine Large	intestine
3	chr5:14591800-14610000	Weak transcription	Gastric	stomach
4	chr5:14592000-14618400	Weak transcription	Hela-S3	cervix
5	chr5:14593200-14600600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr5:14593200-14618400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:14593400-14604800	Weak transcription	Fetal Stomach	stomach
8	chr5:14593600-14615200	Weak transcription	Fetal Brain Female	brain
9	chr5:14594400-14621800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:14594800-14602600	Weak transcription	Colonic Mucosa	Colon
11	chr5:14595200-14613400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:14595400-14601600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr5:14595400-14616200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:14595600-14601400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr5:14595600-14602600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr5:14596000-14599400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr5:14596200-14601400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr5:14596600-14601600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:14597400-14600600	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr5:14597600-14610400	Weak transcription	Adipose Nuclei	Adipose
21	chr5:14597800-14601600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr5:14598200-14618200	Weak transcription	Thymus	Thymus
23	chr5:14598400-14600600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr5:14598400-14602200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:14598400-14604800	Weak transcription	Lung	lung
26	chr5:14598400-14610400	Weak transcription	Spleen	Spleen
27	chr5:14598400-14619400	Weak transcription	Small Intestine	intestine
28	chr5:14598600-14601200	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr5:14598600-14601200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr5:14598600-14602200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr5:14598600-14602400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr5:14598600-14602400	Weak transcription	Fetal Thymus	thymus
33	chr5:14598800-14601400	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr5:14598800-14601600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr5:14598800-14601600	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr5:14598800-14601800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr5:14598800-14602200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr5:14598800-14607000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr5:14598800-14608200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:14598800-14608400	Weak transcription	Pancreas	Pancrea
41	chr5:14598800-14608800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr5:14598800-14616600	Weak transcription	Brain Hippocampus Middle	brain
43	chr5:14598800-14617000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr5:14598800-14618000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr5:14599000-14599400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr5:14599000-14599800	Weak transcription	Fetal Brain Male	brain
47	chr5:14599000-14600000	Weak transcription	Primary T cells from cord blood	blood
48	chr5:14599000-14602400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr5:14599000-14616800	Weak transcription	Brain Angular Gyrus	brain

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