Variant report

Variant	rs4714088
Chromosome Location	chr6:37610796-37610797
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:37601453..37608472-chr6:37609186..37615415,9	K562	blood:

Variant related genes	Relation type
ENSG00000112139	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10947689	0.84[ASN][1000 genomes]
rs12530135	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3905219	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45511994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45539335	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4714089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714090	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6901281	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6939363	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9462339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9462340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9462341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752124	chr6:37416219-37680622	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37594000-37615400	Weak transcription	Fetal Brain Female	brain
2	chr6:37599200-37615600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:37599200-37621800	Weak transcription	NHLF	lung
4	chr6:37600400-37611400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr6:37602200-37616600	Weak transcription	Right Atrium	heart
6	chr6:37602800-37616400	Weak transcription	Ovary	ovary
7	chr6:37604000-37611800	Weak transcription	Brain Germinal Matrix	brain
8	chr6:37604200-37614600	Strong transcription	Fetal Stomach	stomach
9	chr6:37604400-37611600	Weak transcription	Small Intestine	intestine
10	chr6:37605000-37611600	Weak transcription	Gastric	stomach
11	chr6:37606800-37611800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:37606800-37615600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:37607000-37611600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:37607000-37611800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:37607200-37611200	Weak transcription	A549	lung
16	chr6:37607200-37611400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:37607400-37611600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:37607400-37611600	Weak transcription	HMEC	breast
19	chr6:37607600-37611400	Weak transcription	Hela-S3	cervix
20	chr6:37609000-37612600	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr6:37609600-37611600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:37609600-37612800	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr6:37609800-37612600	Enhancers	Primary T cells fromperipheralblood	blood
24	chr6:37610000-37612200	Strong transcription	Stomach Smooth Muscle	stomach
25	chr6:37610000-37612600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr6:37610000-37612600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr6:37610200-37611400	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr6:37610200-37611400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr6:37610200-37611800	Weak transcription	Fetal Brain Male	brain
30	chr6:37610400-37612400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr6:37610400-37612800	Enhancers	K562	blood
32	chr6:37610600-37610800	Enhancers	Left Ventricle	heart
33	chr6:37610600-37611000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:37610600-37612400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr6:37610600-37612400	Enhancers	Esophagus	oesophagus
36	chr6:37610600-37612600	Enhancers	Spleen	Spleen
37	chr6:37610600-37612800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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