Variant report

Variant	rs11989904
Chromosome Location	chr8:124290977-124290978
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:124289757-124292402	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124288963..124291193-chr8:124295554..124298601,3	K562	blood:
2	chr8:124263523..124266020-chr8:124289361..124291881,2	MCF-7	breast:
3	chr8:124289210..124291105-chr8:124296512..124298994,2	MCF-7	breast:
4	chr8:124289689..124292455-chr8:124292492..124294861,2	MCF-7	breast:
5	chr8:124289326..124291431-chr8:124427646..124429948,3	MCF-7	breast:

No data

Variant related genes	Relation type
ZHX1	TF binding region
ENSG00000165156	Chromatin interaction
ENSG00000156802	Chromatin interaction
ENSG00000156795	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10089968	0.83[AMR][1000 genomes]
rs10103175	0.83[AMR][1000 genomes]
rs10104148	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11985857	0.91[AFR][1000 genomes]
rs11996182	1.00[AMR][1000 genomes]
rs11997908	0.83[AMR][1000 genomes]
rs16898257	0.83[AMR][1000 genomes]
rs1869248	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28461952	0.83[AMR][1000 genomes]
rs5001348	1.00[AMR][1000 genomes]
rs6987701	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6990003	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7003464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7007690	0.83[AMR][1000 genomes]
rs7009541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs900629	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv831449	chr8:124276685-124471740	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 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	chr8:124287800-124301200	Weak transcription	Esophagus	oesophagus
2	chr8:124288000-124291400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:124288000-124291600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:124288200-124291200	Weak transcription	Fetal Kidney	kidney
5	chr8:124288200-124291400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:124288200-124298200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr8:124288200-124298400	Weak transcription	Right Atrium	heart
8	chr8:124289000-124291600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr8:124289200-124293000	Weak transcription	Placenta	Placenta
10	chr8:124289400-124291200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr8:124289400-124291400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:124289400-124291400	Weak transcription	Brain Angular Gyrus	brain
13	chr8:124289400-124291400	Weak transcription	Brain Hippocampus Middle	brain
14	chr8:124289400-124291400	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:124289400-124291600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:124289400-124291800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:124289400-124296800	Weak transcription	Brain Substantia Nigra	brain
18	chr8:124289400-124297000	Weak transcription	Brain Germinal Matrix	brain
19	chr8:124289400-124298000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:124289800-124293000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:124289800-124294600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:124289800-124296200	Weak transcription	Fetal Brain Female	brain
23	chr8:124290000-124291400	Weak transcription	Brain Anterior Caudate	brain
24	chr8:124290000-124291800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr8:124290800-124291600	Enhancers	HepG2	liver
26	chr8:124290800-124292600	Enhancers	Cortex derived primary cultured neurospheres	brain

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