Variant report

Variant	rs7739717
Chromosome Location	chr6:12969200-12969201
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:12967955..12970126-chr6:12970232..12972155,2	K562	blood:
2	chr6:12966482..12969474-chr6:12970571..12972855,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11757634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11961007	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11963982	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13207062	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1937768	0.83[JPT][hapmap]
rs4236091	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4349811	0.80[AMR][1000 genomes]
rs4380742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711899	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4715016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4715023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4715032	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4715043	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4715048	0.80[AMR][1000 genomes]
rs6458568	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6899754	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6900619	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6901563	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6916268	1.00[CEU][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6920970	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7743219	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7760857	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7762881	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7770277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7774403	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7774775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296556	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9296580	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9463337	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9463363	0.87[AMR][1000 genomes]
rs9473113	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9473120	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9473156	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9473188	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9473198	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv830588	chr6:12793530-12972493	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv817350	chr6:12922859-13137655	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv600992	chr6:12961922-13218549	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12963600-12969400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:12963600-12971000	Weak transcription	HSMM	muscle
3	chr6:12963600-12971600	Weak transcription	Spleen	Spleen
4	chr6:12963600-12972400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:12963600-12973000	Weak transcription	Pancreas	Pancrea
6	chr6:12963600-12974600	Weak transcription	Right Ventricle	heart
7	chr6:12964000-12971400	Enhancers	Fetal Heart	heart
8	chr6:12964000-12988000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:12964800-12969400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:12965200-12971000	Weak transcription	HUVEC	blood vessel
11	chr6:12966600-12972800	Weak transcription	Lung	lung
12	chr6:12966800-12975600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:12967800-12969200	Enhancers	Brain Hippocampus Middle	brain
14	chr6:12967800-12969400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:12968000-12969200	Enhancers	Brain Cingulate Gyrus	brain
16	chr6:12968200-12970400	Enhancers	Aorta	Aorta
17	chr6:12968400-12976000	Weak transcription	Left Ventricle	heart
18	chr6:12968600-12969600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:12968600-12973200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr6:12968800-12969200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr6:12968800-12969400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:12968800-12969400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr6:12968800-12973600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr6:12968800-12975000	Weak transcription	Brain Anterior Caudate	brain
25	chr6:12968800-12977400	Weak transcription	Fetal Muscle Leg	muscle
26	chr6:12968800-12978200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr6:12969000-12969400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:12969000-12971600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:12969200-12969400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:12969200-12969600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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