Variant report

Variant	rs6987542
Chromosome Location	chr8:86999487-86999488
allele	A/G
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	CTCF	chr8:86999318-86999919	MCF-7	breast:	n/a	chr8:86999663-86999676
2	RAD21	chr8:86999342-86999814	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr8:86999331-86999805	HCT-116	colon:	n/a	n/a
4	CTCF	chr8:86999463-86999817	H1-hESC	embryonic stem cell:	n/a	chr8:86999663-86999676
5	POLR2A	chr8:86999377-86999681	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr8:86999337-87000008	HCT-116	colon:	n/a	chr8:86999663-86999676
7	CTCF	chr8:86999404-86999790	K562	blood:	n/a	chr8:86999663-86999676
8	CTCF	chr8:86999397-86999852	H1-hESC	embryonic stem cell:	n/a	chr8:86999663-86999676
9	TCF12	chr8:86999429-86999710	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr8:86999299-86999973	HCT-116	colon:	n/a	n/a
11	RAD21	chr8:86999429-86999854	H1-hESC	embryonic stem cell:	n/a	n/a
12	SIN3A	chr8:86999462-86999783	H1-hESC	embryonic stem cell:	n/a	n/a
13	RAD21	chr8:86999438-86999815	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr8:86999348-86999853	MCF-7	breast:	n/a	chr8:86999663-86999676
15	CTCF	chr8:86999484-86999795	K562	blood:	n/a	chr8:86999663-86999676
16	ZNF143	chr8:86999435-86999834	H1-hESC	embryonic stem cell:	n/a	n/a
17	SMC3	chr8:86999451-86999833	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr8:86999251-86999876	A549	lung:	n/a	chr8:86999663-86999676
19	RXRA	chr8:86999433-86999696	H1-hESC	embryonic stem cell:	n/a	n/a
20	RAD21	chr8:86999329-86999913	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr8:86999411-86999939	HCT-116	colon:	n/a	chr8:86999663-86999676
22	POLR2A	chr8:86999391-86999627	H1-hESC	embryonic stem cell:	n/a	n/a
23	RAD21	chr8:86999274-87000021	MCF-7	breast:	n/a	n/a
24	RAD21	chr8:86999326-86999873	MCF-7	breast:	n/a	n/a
25	RAD21	chr8:86999453-86999836	ECC-1	luminal epithelium:	n/a	n/a
26	RAD21	chr8:86999426-86999819	ECC-1	luminal epithelium:	n/a	n/a
27	MXI1	chr8:86999426-86999702	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:86373793..86376899-chr8:86998896..87001584,3	MCF-7	breast:

Variant related genes	Relation type
ATP6V0D2	TF binding region
ENSG00000104267	Chromatin interaction
ENSG00000253549	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16869813	0.87[AMR][1000 genomes]
rs16870913	1.00[AMR][1000 genomes]
rs16871400	0.87[AMR][1000 genomes]
rs16871521	0.81[YRI][hapmap];0.87[AMR][1000 genomes]
rs57208063	0.87[AMR][1000 genomes]
rs58336530	0.87[AMR][1000 genomes]
rs60081320	1.00[AMR][1000 genomes]
rs7819381	0.83[YRI][hapmap];0.87[AMR][1000 genomes]
rs7832125	1.00[AMR][1000 genomes]
rs7832910	0.83[YRI][hapmap];0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758162	chr8:86405478-87055053	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv2759624	chr8:86405478-87055053	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv428204	chr8:86405478-87312208	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv891139	chr8:86827016-87001113	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1028959	chr8:86835367-87142383	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv891146	chr8:86841229-87083747	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv891147	chr8:86886950-87333968	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription 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	24 gene(s)	inside rSNPs	diseases
10	esv2753776	chr8:86918562-87020337	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	esv1801404	chr8:86976804-87023306	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv1034721	chr8:86977250-87131151	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv891148	chr8:86987886-87149808	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86984200-87000000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:86997800-86999600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr8:86997800-86999600	Enhancers	HMEC	breast
4	chr8:86998000-86999800	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr8:86998200-86999800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr8:86998400-86999600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:86998800-86999800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:86999000-86999800	Enhancers	Brain Anterior Caudate	brain
9	chr8:86999000-87000000	Enhancers	Brain Cingulate Gyrus	brain
10	chr8:86999000-87000000	Enhancers	NH-A	brain
11	chr8:86999000-87000600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:86999000-87001400	Enhancers	Brain Substantia Nigra	brain
13	chr8:86999000-87004200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:86999200-86999600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr8:86999200-86999600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr8:86999200-86999800	Enhancers	Brain Angular Gyrus	brain
17	chr8:86999200-87000200	Enhancers	Brain Hippocampus Middle	brain
18	chr8:86999200-87002400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:86999400-86999600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:86999400-86999600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr8:86999400-86999600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:86999400-86999600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr8:86999400-86999800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
24	chr8:86999400-86999800	Enhancers	Psoas Muscle	Psoas
25	chr8:86999400-87000200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:86999400-87000600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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