Variant report

Variant	rs6999016
Chromosome Location	chr8:100014016-100014017
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:100009588..100012990-chr8:100013654..100017766,5	K562	blood:
2	chr8:100013186..100018258-chr8:100022769..100026424,8	MCF-7	breast:
3	chr8:100011207..100013044-chr8:100013955..100016177,3	K562	blood:
4	chr8:99956762..99958304-chr8:100013613..100016438,2	K562	blood:
5	chr8:100013073..100014994-chr8:100016917..100018773,2	K562	blood:
6	chr8:99952140..99962153-chr8:100006475..100015090,25	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132549	Chromatin interaction
ENSG00000253948	Chromatin interaction
ENSG00000104375	Chromatin interaction
ENSG00000263842	Chromatin interaction
ENSG00000271930	Chromatin interaction
ENSG00000164920	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs4585723	1.00[AMR][1000 genomes]
rs58433985	1.00[AMR][1000 genomes]
rs60588461	1.00[AMR][1000 genomes]
rs6982060	1.00[AMR][1000 genomes]
rs73277822	1.00[AMR][1000 genomes]
rs73277859	1.00[AMR][1000 genomes]
rs73277866	1.00[AMR][1000 genomes]
rs73277869	1.00[AMR][1000 genomes]
rs73277870	1.00[AMR][1000 genomes]
rs73277872	1.00[AMR][1000 genomes]
rs73277876	1.00[AMR][1000 genomes]
rs73277884	1.00[AMR][1000 genomes]
rs73277895	1.00[AMR][1000 genomes]
rs73277897	1.00[AMR][1000 genomes]
rs73279716	1.00[AMR][1000 genomes]
rs73279717	1.00[AMR][1000 genomes]
rs73279718	1.00[AMR][1000 genomes]
rs73279721	1.00[AMR][1000 genomes]
rs73279722	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279723	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279736	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279739	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279749	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279752	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279757	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279767	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281614	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281620	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281629	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281632	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281661	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281671	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281672	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281685	1.00[AMR][1000 genomes]
rs73281686	1.00[AMR][1000 genomes]
rs73281692	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281693	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281695	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285919	1.00[AMR][1000 genomes]
rs7818030	1.00[AMR][1000 genomes]
rs7826107	1.00[AMR][1000 genomes]
rs7829755	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7841627	1.00[AMR][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	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1023227	chr8:99902615-100290948	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv539692	chr8:99902615-100290948	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	esv1803951	chr8:99922754-100191783	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv611809	chr8:99925628-100093510	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv531505	chr8:99932947-100464147	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv1020174	chr8:99978271-100168938	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv539693	chr8:99978271-100168938	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv967620	chr8:100013130-100021334	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99987200-100024200	Weak transcription	Osteobl	bone
2	chr8:100003400-100023400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:100006600-100024000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:100007000-100023800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:100007000-100024200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:100007200-100016000	Weak transcription	HSMMtube	muscle
7	chr8:100007200-100023000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:100007200-100023600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:100007200-100024000	Weak transcription	Ovary	ovary
10	chr8:100007200-100024400	Weak transcription	Aorta	Aorta
11	chr8:100007400-100014800	Weak transcription	Adipose Nuclei	Adipose
12	chr8:100007400-100015800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:100007800-100018200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:100008200-100018000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:100008600-100021800	Weak transcription	NHDF-Ad	bronchial
16	chr8:100008600-100024000	Weak transcription	NHLF	lung
17	chr8:100008800-100022400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:100012000-100023000	Weak transcription	Liver	Liver
19	chr8:100012000-100023200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:100012200-100023800	Weak transcription	HSMM	muscle
21	chr8:100012400-100023400	Weak transcription	Fetal Lung	lung
22	chr8:100012800-100014200	Weak transcription	Fetal Heart	heart
23	chr8:100013600-100017200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr8:100013800-100014200	Enhancers	Pancreas	Pancrea
25	chr8:100014000-100014200	Active TSS	Primary B cells from cord blood	blood

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