Variant report

Variant	rs2703708
Chromosome Location	chr6:76113039-76113040
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr6:76111618-76113931	SK-N-SH	brain:	n/a	chr6:76112862-76112871 chr6:76112857-76112878 chr6:76112904-76112914 chr6:76113496-76113512 chr6:76112853-76112870 chr6:76113498-76113505 chr6:76112859-76112875 chr6:76112340-76112351
2	SPI1	chr6:76112784-76113047	GM12891	blood:	n/a	chr6:76112904-76112911

Variant related genes	Relation type
ENSG00000221332	TF binding region

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10943241	0.89[EUR][1000 genomes]
rs2703668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2703711	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2703715	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2703716	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2808188	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2808189	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2808190	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2808199	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2808201	0.99[ASN][1000 genomes]
rs2808208	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2842451	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2842452	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2842455	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2951934	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2951937	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2951939	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2951945	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2951946	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2951947	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2951949	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2951952	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2998371	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3935857	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4131550	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4273651	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4283851	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4295446	0.87[EUR][1000 genomes]
rs4324739	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4361582	0.82[EUR][1000 genomes]
rs4380723	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4498313	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4535511	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4541712	0.89[EUR][1000 genomes]
rs4568415	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4588651	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4708178	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4708181	0.89[EUR][1000 genomes]
rs6453825	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6902022	0.81[EUR][1000 genomes]
rs6913979	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6921940	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6933680	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7451911	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7740648	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7753528	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7766441	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7772989	0.85[EUR][1000 genomes]
rs9341514	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9343281	0.81[EUR][1000 genomes]
rs9352203	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9352204	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9352205	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9352206	0.88[ASN][1000 genomes]
rs9352207	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9443168	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9443171	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9689477	0.87[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	nsv1016804	chr6:75775846-76188585	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538310	chr6:75775846-76188585	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1024079	chr6:75848556-76238519	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1027915	chr6:75893542-76510113	Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
5	nsv538311	chr6:75893542-76510113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
6	nsv830698	chr6:75968810-76115592	Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv1022428	chr6:76023118-76575620	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
8	nsv538312	chr6:76023118-76575620	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
9	nsv1032245	chr6:76045537-76545703	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
10	nsv538313	chr6:76045537-76545703	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
11	nsv886182	chr6:76096230-76194007	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76106400-76113600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:76107400-76116200	Enhancers	Fetal Heart	heart
3	chr6:76108200-76113200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:76108200-76119000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr6:76108400-76114200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr6:76109800-76113400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr6:76111000-76119600	Weak transcription	Aorta	Aorta
8	chr6:76111600-76114000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:76111800-76113200	Enhancers	NHLF	lung
10	chr6:76112000-76114400	Enhancers	A549	lung
11	chr6:76112200-76114200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:76112200-76115000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr6:76112400-76133200	Weak transcription	Fetal Muscle Leg	muscle
14	chr6:76112600-76115000	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr6:76112800-76114000	Weak transcription	Hela-S3	cervix
16	chr6:76112800-76118000	Weak transcription	Colon Smooth Muscle	Colon
17	chr6:76113000-76113200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:76113000-76113400	Weak transcription	Right Ventricle	heart
19	chr6:76113000-76114200	Enhancers	Fetal Lung	lung
20	chr6:76113000-76114400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:76113000-76114400	Enhancers	Placenta	Placenta
22	chr6:76113000-76114400	Enhancers	Left Ventricle	heart
23	chr6:76113000-76114600	Enhancers	Psoas Muscle	Psoas
24	chr6:76113000-76114600	Enhancers	Right Atrium	heart

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